Découvrez nos professeurs et professeures!

Jacques Simard

Vice-doyen

jacques.simard@fmed.ulaval.ca

Médecine-Direction

Centre de recherche sur le cancer

Centre de recherche du CHU de Québec - Université Laval

Partager la fiche :

Contribution à la recherche

Axe de recherche de l'Université Laval :

Santé et bien-être durables

Thématiques de recherche de la Faculté de médecine :

Oncologie

Santé des populations et pratiques optimales en santé

Bioinformatique / données massives (big data)

Transfert des connaissances

Domaines et intérêts de recherche du (de la) professeur(e) :

Cancer

Cancer du sein
Cancer héréditaire
Cancers hormonaux-dépendants
Génétique du cancer

Génétique humaine

Gènes de susceptibilité
Génétique et éthique
Génétique moléculaire
Génomique
Polymorphisme

Santé des populations

Services de santé

Génomique et protéomique

Projets de recherche

Characterization of novel breast cancer susceptibility genes through large-scale targeted sequencing and functional assays. - Instituts de recherche en santé du Canada - Subvention Projet, chercheur principal - 2024-04-01 au 2029-03-31
Caractérisation de nouveaux gènes de susceptibilité au cancer du sein - Ministère de l'Économie et de l'Innovation et de l'énergie - Programme de soutien aux organismes de recherche et d’innovation (PSO) - International Volet 2C(Ancien PSR-SIIRI), chercheur principal - 2024-02-15 au 2027-04-01
Grand Prix Scientifique 2024 de la Fondation du cancer du sein du Québec - Fondation du cancer du sein du Québec - Prix d'excellence - Grand prix scientifique, chercheur principal - 2024-03-31 au 2025-03-31
Fonds institutionnel d'exploitation des infrastructures pour l'Université Laval - Fondation Canadienne pour l'innovation (La) - Fonds d'exploitation des infrastructures (FEI), co-chercheur - 2002-04-01 au 2025-03-31
Journées de la recherche de la Faculté de médecine et des centres de recherche - Université Laval - Fonds internes - BDR - Contributions, chercheur principal - 2023-04-17 au 2024-04-30
Observatoire international sur les impacts sociétaux de l'intelligence artificielle et du numérique - Fonds de recherche du Québec - Société et culture, Université Laval - Fonds internes - Appel à propositions : création d’un Observatoire international sur les impacts sociétaux de l’intelligence artificielle et du numérique, co-chercheur - 2018-04-01 au 2024-03-31
The contribution of RAD51C and RAD51D to breast and ovarian cancer - National Institute of Health (USA) - Subvention de recherche, Mayo Clinic Rochester, co-chercheur - 2021-05-01 au 2023-04-30
From correlation to causation in genomics: identifying mechanisms underlying disease - Instituts de recherche en santé du Canada - Subventions Fondation, University of Toronto, co-chercheur - 2015-07-01 au 2022-06-30
Chaire de recherche du Canada en oncogénétique - Instituts de recherche en santé du Canada - Chaires de recherche du Canada - Fonctionnement, chercheur principal - 2015-03-01 au 2022-06-30
Personalized Risk Assesment for Prevention and Early Detection of Breast Cancer : Integration and Implementation (PERSPECTIVE II) - Regroupement de compagnies et corporations canadiennes, Fondation du CHU de Québec, Génome Québec, Ministère de la santé (Ontario), Ministère de l'Économie, de la Science et de l'Innovation, Instituts de recherche en santé du Canada, Fondation du cancer du sein du Québec, Génome Canada - Projets de recherche appliquée à grande échelle - Large-Scale Applied Research Project, chercheur principal - 2017-11-01 au 2022-03-31
Personalized Risk Assesment for Prevention and Early Detection of Breast Cancer : Integration and Implementation (PERSPECTIVE II) : Activité 1.1 - Génome Québec, Instituts de recherche en santé du Canada - Projets de recherche appliquée à grande échelle - Large-Scale Applied Research Project, chercheur principal - 2017-11-01 au 2022-03-31
Personalized Risk Assesment for Prevention and Early Detection of Breast Cancer : Integration and Implementation (PERSPECTIVE II) : Activité 5 - Génome Québec - Projets de recherche appliquée à grande échelle - Large-Scale Applied Research Project, chercheur principal - 2017-11-01 au 2022-03-31
Personalized Risk Assesment for Prevention and Early Detection of Breast Cancer : Integration and Implementation (PERSPECTIVE II) : Activités 3.1/3.2 - Génome Québec - Projets de recherche appliquée à grande échelle - Large-Scale Applied Research Project, chercheur principal - 2017-11-01 au 2022-03-31
Personalized Risk Assesment for Prevention and Early Detection of Breast Cancer : Integration and Implementation (PERSPECTIVE II) : Activité 3.3 - Génome Québec - Projets de recherche appliquée à grande échelle - Large-Scale Applied Research Project, chercheur principal - 2017-11-01 au 2022-03-31
Personalized Risk Assesment for Prevention and Early Detection of Breast Cancer : Integration and Implementation (PERSPECTIVE II) : Activité 1.2 - Instituts de recherche en santé du Canada, Génome Québec - Projets de recherche appliquée à grande échelle - Large-Scale Applied Research Project, chercheur principal - 2017-11-01 au 2022-03-31
Personalized Risk Assesment for Prevention and Early Detection of Breast Cancer : Integration and Implementation (PERSPECTIVE II) : R92 - Transferts de fonds interinstitutions - Génome Québec, Instituts de recherche en santé du Canada - Projets de recherche appliquée à grande échelle - Large-Scale Applied Research Project, chercheur principal - 2017-11-01 au 2022-03-31
Quand innovations technologique et organisationnelle vont de pair: Un modèle collaboratif pour rendre l'oncogénétique plus agile, accessible et efficiente - Fonds de recherche du Québec - Santé, co-chercheur - 2020-04-01 au 2022-03-31
Personalized Risk Assesment for Prevention and Early Detection of Breast Cancer : Integration and Implementation (PERSPECTIVE II) : Activité 2.3 - Génome Québec - Projets de recherche appliquée à grande échelle - Large-Scale Applied Research Project, chercheur principal - 2017-11-01 au 2022-03-31

...

Publications

DHEA and the intracrine formation of androgens and estrogens in peripheral target tissues: its role during aging, , Steroids, 1998, 10.1016/s0039-128x(98)00007-5
Response of symbiotic endomycorrhizal fungi to estrogens and antiestrogens, , Mol Plant Microbe Interact, 1997
No evidence of mutations in the genes for type I and type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) in nonclassical 3 beta HSD deficiency, , J Clin Endocrinol Metab, 1994, 10.1210/jcem.79.6.7989489
On the readiness of physicians for pharmacogenomics testing: an empirical assessment, , Pharmacogenomics J, 2018, 10.1038/tpj.2017.22
Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study, , Am J Obstet Gynecol, 2021, 10.1016/j.ajog.2021.01.014
Genomic organization and expression of the mouse Brca2 gene, , Mamm Genome, 2002, 10.1007/s00335-002-2300-6
Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers, , Am J Hum Genet, 2008, 10.1016/j.ajhg.2008.02.008
Evaluation of the contribution of the three breast cancer susceptibility genes CHEK2, STK11, and PALB2 in non-BRCA1/2 French Canadian families with high risk of breast cancer, , Genet Test Mol Biomarkers, 2010, 10.1089/gtmb.2010.0027
The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers, , Cancer Epidemiol Biomarkers Prev, 2017, 10.1158/1055-9965.Epi-16-0106
A Mendelian randomization analysis of circulating lipid traits and breast cancer risk, , Int J Epidemiol, 2020, 10.1093/ije/dyz242
Synthetic progestins stimulate prostatic binding protein messenger RNAs in the rat ventral prostate, , Mol Cell Endocrinol, 1990, 10.1016/0303-7207(90)90190-j
Molecular basis of human 3 beta-hydroxysteroid dehydrogenase deficiency, , J Steroid Biochem Mol Biol, 1995, 10.1016/0960-0760(95)00043-y
Pleiotropy-guided transcriptome imputation from normal and tumor tissues identifies candidate susceptibility genes for breast and ovarian cancer, , HGG Adv, 2021, 10.1016/j.xhgg.2021.100042
Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers, , Cancer Epidemiol Biomarkers Prev, 2012, 10.1158/1055-9965.Epi-11-0888
Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2, , Breast Cancer Res, 2011, 10.1186/bcr3052
Science behind total androgen blockade: from gene to combination therapy, , Clin Invest Med, 1993
Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers, , Cancer Epidemiol Biomarkers Prev, 2015, 10.1158/1055-9965.Epi-14-0532
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer, , Nat Genet, 2017, 10.1038/ng.3785
BRCA1 wild-type allele modifies risk of ovarian cancer in carriers of BRCA1 germ-line mutations, , Cancer Epidemiol Biomarkers Prev, 2003
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers, , Nat Commun, 2021, 10.1038/s41467-020-20496-3
Effect of the Women's Health Initiative study publication on hormone replacement therapy use among women who have undergone BRCA1/2 testing, , Cancer Epidemiol Biomarkers Prev, 2007, 10.1158/1055-9965.Epi-06-0340
Family communication following BRCA1/2 genetic testing: a close look at the process, , J Genet Couns, 2013, 10.1007/s10897-012-9559-x
Functional and clinical characterization of variants of uncertain significance identifies a hotspot for inactivating missense variants in RAD51C., Fergus Couch, Yuan-Ping Pang, Jean Yves Masson, Jacques Simard, Steven Hart, Saravut Weroha, Jill Dolinsky, Kathleen Hruska, Siddhartha Yadav, Susan Domchek, Marcy Richardson, Rachid Karam, gaofeng cui, Georges Mer, Eric Polley, Rohan Gnanaolivu, Nicholas Boddicker, Jeffrey Weitzel, Nathanson KL, Irene Ong, Song Yao, Celine Vachon, Lauren Teras, Julie Palmer, Sara Lindstrom, Peter Kraft, Christopher Haiman, Susan Neuhausen, Tina Pesaran, AMAL YUSSUF, Elizabeth, Holly LaDuca, Susan Hiraki, Megan Marshall, Maegan Roberts, Lisa Susswein, jie na, Carolyn Lumby, Huaizhi Huang, Kun Lee, Gemma Montalban, Hermela Shimelis, ANIL BELUR NAGARAJ, Chunling Hu, Cancer research, 2023, 10.1158/0008-5472.can-22-2319
Polygenic risk modeling for prediction of epithelial ovarian cancer risk, Diana M. Eccles, Eleanor Davies, Daniel Barrowdale, Rita K. Schmutzler, Christoph Engel, Noura Mebirouk, Fabienne Lesueur, Sarah Colonna, Kathleen Claes, Wendy K. Chung, Yoke-Eng Chiew, Kexin Chen, Stephen Chanock, Jenny Chang-Claude, Hayley Cassingham, Rikki Cannioto, Ian Campbell, Maria A. Caligo, Hui Cai, Saundra S. Buys, Ralf Butzow, Agnieszka Budzilowska, James D. Brenton, Ake Borg, Bernardo Bonanni, Natalia V. Bogdanova, Amanda Black, Line Bjorge, Marcus Q. Bernardini, Marina Bermisheva, Javier Benitez, Alicia Beeghly-Fadiel, Matthias W. Beckmann, Daniel Barrowdale, Rosa B. Barkardottir, Elisa V. Bandera, Judith Balmaña, Annelie Augustinsson, Banu K. Arun, Gerasimos Aravantinos, Natalia N. Antonenkova, Hoda Anton-Culver, Irene L. Andrulis, Simona Agata, Muriel A. Adank, Xin Yang, Katja K. H. Aben, Michelle R. Jones, Daniel Barnes, Jonathan Tyrer, Eileen O. Dareng, European Journal of Human Genetics, 2022, 10.1038/s41431-021-00987-7
Polygenic risk scores for prediction of breast cancer risk in Asian populations., Kweon SS, Yamaji T, Iwasaki M, Allison Kurian, Chan TL, John EM, Kwong A, Ito H, Matsuo K, Tseng CC, Wu AH, Lophatananon A, Muir KR, Park B, Wu PE, CHEN-YANG SHEN, Kim SW, Park SK, BioBank Japan Project, Shinichi Namba, Okada Y, Kubo M, Lee HB, Han W, Choi JY, Kang D, Zheng Y, Gao YT, Lim SH, Tan EY, Tan SM, Tan BKT, Tan VKM, Rahmat K, Hassan T, Wijaya EA, Long J, Kyriaki Michailidou, Wang Q, Bolla MK, Mavaddat N, Lee SH, Jee YH, Lin K, Millwood IY, Ho PJ, Li J, Shu X, Dennis J, Tai MC, Ho WK, Genetics in medicine : official journal of the American College of Medical Genetics, 2021, 10.1016/j.gim.2021.11.008
Regulation of growth hormone mRNA and pro-opiomelanocortin mRNA levels by cyclic AMP in rat anterior pituitary cells in culture, , DNA, 1986, 10.1089/dna.1986.5.263
Congenital adrenal hyperplasia caused by a novel homozygous frameshift mutation 273 delta AA in type II 3 beta-hydroxysteroid dehydrogenase gene (HSD3B2) in three male patients of Afghan/Pakistani origin, , Hum Mol Genet, 1994, 10.1093/hmg/3.2.327
Androgènes, , Pharmacologie clinique: bases de la thérapeutique, 1988
Genetically Predicted Levels of DNA Methylation Biomarkers and Breast Cancer Risk: Data From 228 951 Women of European Descent, , J Natl Cancer Inst, 2020, 10.1093/jnci/djz109
Regulation of 3-ketosteroid reductase messenger ribonucleic acid levels and 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase activity in rat liver by sex steroids and pituitary hormones, , Endocrinology, 1992, 10.1210/endo.131.6.1446638
Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2, , Nat Commun, 2019, 10.1038/s41467-019-13194-2
Local and systemic reduction by topical finasteride or flutamide of hamster flank organ size and enzyme activity, , J Invest Dermatol, 1995, 10.1111/1523-1747.ep12324390
Inhibition of cell cycle kinetics and proliferation by the androgen 5 alpha-dihydrotestosterone and antiestrogen N,n-butyl-N-methyl-11-[16' alpha-chloro-3',17 beta-dihydroxy-estra-1',3',5'-(10')triene-7' alpha-yl] undecanamide in human breast cancer ZR-75-1 cells, , Cancer Res, 1991
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers, , Hum Mol Genet, 2009, 10.1093/hmg/ddp372
Combined analysis of hereditary prostate cancer linkage to 1q24-25: results from 772 hereditary prostate cancer families from the International Consortium for Prostate Cancer Genetics, , Am J Hum Genet, 2000, 10.1086/302807
Electron microscopic autoradiographic localization of prolactin mRNA in rat pituitary, , J Histochem Cytochem, 1989, 10.1177/37.5.2703695
Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus, , PLoS One, 2016, 10.1371/journal.pone.0160316
The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant, , Genet Med, 2021, 10.1038/s41436-021-01198-7
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk, , PLoS Genet, 2013, 10.1371/journal.pgen.1003212
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population, , Nat Genet, 2010, 10.1038/ng.669
Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study., Eliassen AH, Diana M Eccles, Dwek M, Thilo Dörk, Devilee P, Daly MB, Czene K, Cross SS, Cox A, Couch FJ, Conroy DM, Clarke CL, Chanock SJ, Chang-Claude J, Cessna MH, Castelao JE, Canzian F, Campa D, Camp NJ, Brüning T, Buys SS, Hermann Brenner, Bonanni B, Stig Bojesen, Bogdanova NV, Blomqvist C, Bermisheva M, Behrens S, Beckmann MW, Becher H, Auvinen P, Beane Freeman LE, Aronson KJ, Augustinsson A, Arndt V, Anton-Culver H, Andrulis IL, Ambrosone CB, Ahearn TU, Investigators A, Lush M, Dennis J, Wang Q, Bolla MK, Michailidou K, Giles GG, Terry Boyle, English DR, Richard Martin, Lewis SJ, Suzanne C. Dixon-Suen, British journal of sports medicine, 2022, 10.1136/bjsports-2021-105132
Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses, , Nat Genet, 2020, 10.1038/s41588-020-0609-2
Perspective: prostate cancer susceptibility genes, , Endocrinology, 2002, 10.1210/endo.143.6.8890
Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers, , J Natl Cancer Inst, 2011, 10.1093/jnci/djq494
Exploring resources for intrafamilial communication of cancer genetic risk: we still need to talk, , Eur J Hum Genet, 2013, 10.1038/ejhg.2012.286
Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers, , Nat Commun, 2020, 10.1038/s41467-020-16483-3
Personalizing Breast Cancer Screening Based on Polygenic Risk and Family History, , J Natl Cancer Inst, 2021, 10.1093/jnci/djaa127
Inverse relationships between cell proliferation and basal or androgen-stimulated apolipoprotein D secretion in LNCaP human prostate cancer cells, , J Steroid Biochem Mol Biol, 1994, 10.1016/0960-0760(94)90090-6
Identification of six new susceptibility loci for invasive epithelial ovarian cancer, , Nat Genet, 2015, 10.1038/ng.3185
A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor, , Nucleic Acids Res, 2019, 10.1093/nar/gkz780
Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), , JAMA Oncol, 2020, 10.1001/jamaoncol.2020.2134
Stimulation of androgen-dependent gene expression by the adrenal precursors dehydroepiandrosterone and androstenedione in the rat ventral prostate, , Endocrinology, 1989, 10.1210/endo-124-6-2745
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry, Jacques Simard, Eric Hahnen, MK Schmidt, Douglas F. Easton, Rita K. Schmutzler, Irene L. Andrulis, David E. Goldgar, Alfons Meindl, Gary Bader, Sean Tavtigian, Peter Devilee, GHS Study Group, Genome of the Netherlands Project, Bernhard H.F. Weber, Shan Wang-Gohrke, Qin Wang, Quinten Waisfisz, Michael Wagner, Alexander E. Volk, Rob B. van der Luijt, Lizet van der Kolk, Christi J. van Asperen, Holger Thiele, Christian Sutter, Tim M. Strom, Antje Stäbler, Martin Scherer, Mitul Shah, Gunnar Schmidt, Steffi Riedel-Heller, Juliane Ramser, Alfredo Ramirez, Paul D. P. Pharoah, Annette Peters, Claus-Eric Ott, Peter Nürnberg, Dieter Niederacher, John Martens, Wolfgang Maier, Craig Luccarini, Renske Keeman, Renske Keeman, Silke Kaulfuß, M. Arfan Ikram, Judit Horváth, Maartje J. Hooning, Antoinette Hollestelle, Frans B. L. Hogervorst, Julia Hentschel, Mohamed Helmy, Karl Hackmann, Jessica, Christian Gieger, Willemina R. R. Geurts-Giele, Andrea Gehrig, Christoph Engel, Alison M. Dunning, Michael R. Dufault, Sten Cornelissen, Sara Carvalho, Shelley Bull, Manjeet K. Bolla, Riccardo Berutti, Margreet Ausems, Norbert Arnold, Janine Altmüller, Jamie Allen, Muriel A. Adank, Audrey Lemaçon, Frédéric Fournier, Maxime Vallée, Penny Soucy, Annie-Claude Collin-Deschesnes, Stéphane Dubois, Bing-Jian Feng, Arnaud Droit, Corinna Ernst, Charles Joly-Beauparlant, Nana Weber-Lassalle, Martine Dumont, Cancers, 2022, 10.3390/cancers14143363
Modulation by sex steroids and [D-Trp6, Des-Gly-NH2(10)]luteinizing hormone (LH)-releasing hormone ethylamide of alpha-subunit and LH beta messenger ribonucleic acid levels in the rat anterior pituitary gland, , Mol Endocrinol, 1988, 10.1210/mend-2-9-775
PALB2 Variants: Protein Domains and Cancer Susceptibility, , Trends Cancer, 2021, 10.1016/j.trecan.2020.10.002
Mapping of the HSD17B2 gene encoding type II 17 beta-hydroxysteroid dehydrogenase close to D16S422 on chromosome 16q24.1-q24.2, , Genomics, 1995, 10.1016/0888-7543(95)80017-g
Linkage analysis of chromosome 1q markers in 136 prostate cancer families. The Cancer Research Campaign/British Prostate Group U.K. Familial Prostate Cancer Study Collaborators, , Am J Hum Genet, 1998, 10.1086/301745
Structure of human type II 5 alpha-reductase gene, , Endocrinology, 1992, 10.1210/endo.131.3.1505484
Novel Associations between Common Breast Cancer Susceptibility Variants and Risk-Predicting Mammographic Density Measures, , Cancer Res, 2015, 10.1158/0008-5472.Can-14-2012
Localization of 3 beta-hydroxysteroid dehydrogenase in rat brain as studied by in situ hybridization, , Mol Cell Neurosci, 1994, 10.1006/mcne.1994.1014
Large-scale cross-cancer fine-mapping of the 5p15.33 region reveals multiple independent signals, , HGG Adv, 2021, 10.1016/j.xhgg.2021.100041
Combination therapy in stage C and D prostatic cancer: rationale and five year clinical experience, , Cancer Metastasis Rev, 1987, 10.1007/bf00047470
DHEA, the precursor of androgens and estrogens in peripheral tissues in the human: intracrinology, , Dehydroepiandrosterone (DHEA): biochemical, physiological and clinical aspects, 2000
Potential of polygenic risk scores for improving population estimates of women's breast cancer genetic risks, , Genet Med, 2021, 10.1038/s41436-021-01258-y
Life insurance: genomic stratification and risk classification, , Eur J Hum Genet, 2014, 10.1038/ejhg.2013.228
Molecular basis of congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency, , Mol Endocrinol, 1993, 10.1210/mend.7.5.8316254
Les enjeux éthiques de l'identification d'une susceptibilité génétique au cancer du sein dans un contexte de recherche clinique intégrée, , Les pratiques de recherche biomédicale visitées par la bioéthique, 2003
Pure antagonistic effect of a new steroidal antiestrogen in rat anterior pituitary cells in culture and in mouse uterus, , Ann N Y Acad Sci, 1990
Glucocorticoids enhance activation of the human type II 3beta-hydroxysteroid dehydrogenase/Delta5-Delta4 isomerase gene, , J Steroid Biochem Mol Biol, 2002, 10.1016/s0960-0760(02)00147-4
Personalized Risk Assessment for Prevention and Early Detection of Breast Cancer: Integration and Implementation (PERSPECTIVE I&I), , J Pers Med, 2021, 10.3390/jpm11060511
Macrophage scavenger receptor 1 999C>T (R293X) mutation and risk of prostate cancer, , Cancer Epidemiol Biomarkers Prev, 2005, 10.1158/1055-9965.Epi-04-0202
Self-reported mammography use following BRCA1/2 genetic testing may be overestimated, , Fam Cancer, 2012, 10.1007/s10689-011-9490-6
Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women, , Breast Cancer Res, 2016, 10.1186/s13058-016-0768-3
Synthesis and antiestrogenic activity of diaryl thioether derivatives, , J Med Chem, 1994, 10.1021/jm00034a009
Oral Contraceptive Use and Breast Cancer Risk: Retrospective and Prospective Analyses From a BRCA1 and BRCA2 Mutation Carrier Cohort Study, , JNCI Cancer Spectr, 2018, 10.1093/jncics/pky023
A focus group study on breast cancer risk presentation: one format does not fit all, , Eur J Hum Genet, 2013, 10.1038/ejhg.2012.248
Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores, , J Natl Cancer Inst, 2021, 10.1093/jnci/djab147
Characteristics of the desensitization of growth hormone and cyclic AMP responses to growth hormone-releasing factor and prostaglandin E2 in rat anterior pituitary cells in culture, , Mol Cell Endocrinol, 1986, 10.1016/0303-7207(86)90072-9
Genetic sequence variations and ADPRT haplotype analysis in French Canadian families with high risk of breast cancer, , J Hum Genet, 2007, 10.1007/s10038-007-0203-9
Characteristics of the biphasic action of androgens and of the potent antiproliferative effects of the new pure antiestrogen EM-139 on cell cycle kinetic parameters in LNCaP human prostatic cancer cells, , Cancer Res, 1991
Induction of 3beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase type 1 gene transcription in human breast cancer cell lines and in normal mammary epithelial cells by interleukin-4 and interleukin-13, , Mol Endocrinol, 1999, 10.1210/mend.13.1.0221
Purification, cloning, complementary DNA structure, and predicted amino acid sequence of human estradiol 17 beta-dehydrogenase, , Ann N Y Acad Sci, 1990, 10.1111/j.1749-6632.1990.tb34281.x
Gynecologic Cancer Risk and Genetics: Informing an Ideal Model of Gynecologic Cancer Prevention, Lesa Dawson, Jacques Simard, Gavin Stuart, David Huntsman, Ranjit Manchanda, William D. Foulkes, Nora Pashayan, Kelly Metcalfe, Trevor Dummer, Aline Talhouk, Stuart J. Peacock, Kasmintan Schrader, Bartha Knoppers, Gillian E. Hanley, Janice S. Kwon, Michelle Woo, Stephanie Lam, Almira Zhantuyakova, Lauren C. Tindale, Current Oncology, 2022, 10.3390/curroncol29070368
Generation of a transcription map at the HSD17B locus centromeric to BRCA1 at 17q21, , Genomics, 1995, 10.1006/geno.1995.1185
Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers, , Breast Cancer Res Treat, 2012, 10.1007/s10549-012-2255-6
Molecular cloning, cDNA structure and predicted amino acid sequence of bovine 3 beta-hydroxy-5-ene steroid dehydrogenase/delta 5-delta 4 isomerase, , FEBS Lett, 1989, 10.1016/0014-5793(89)81516-9
Organizational challenges to equity in the delivery of services within a new personalized risk-based approach to breast cancer screening, , New Genet Soc, 2019
Androgen receptor-mediated stimulation of 17 beta-hydroxysteroid dehydrogenase activity by dihydrotestosterone and medroxyprogesterone acetate in ZR-75-1 human breast cancer cells, , Endocrinology, 1993, 10.1210/endo.132.1.8380373
Common BRCA2 variants and modification of breast and ovarian cancer risk in BRCA1 mutation carriers, , Cancer Epidemiol Biomarkers Prev, 2005
Congenital adrenal hyperplasia due to 3beta-hydroxysteroid dehydrogenase/Delta(5)-Delta(4) isomerase deficiency, , Semin Reprod Med, 2002, 10.1055/s-2002-35373
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer, , NPJ Breast Cancer, 2019, 10.1038/s41523-019-0127-5
Incidence and predictors of positive and negative effects of BRCA1/2 genetic testing on familial relationships: a 3-year follow-up study, , Genet Med, 2012, 10.1038/gim.0b013e3182310a7f
Molecular cloning of rat 3b-hydroxysteroid dehydrogenase/D5-D4 isomerase: structure of two types of cDNAs and differential expression of the corresponding mRNAs in the ovary (Chapter 28), , Signaling Mechanisms and Gene Expression in the Ovary, 1991
Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization, , J Natl Cancer Inst, 2015, 10.1093/jnci/djv219
Structure function and tissue-specific gene expression of 3beta-hydroxysteroid dehydrogenase/5-ene-4-ene isomerase enzyme in classical and peripheral intracrine steroidogenic tissues, , J Steroid Biochem Mol Biol, 1992
Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study, , Br J Cancer, 2012, 10.1038/bjc.2012.160
A response to "Personalised medicine and population health: breast and ovarian cancer", , Hum Genet, 2019, 10.1007/s00439-019-01984-z
Enhanced urinary prostaglandin E2 in postobstructive diuresis in humans, , Prostaglandins Med, 1980, 10.1016/0161-4630(80)90087-7
Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Breast Cancer Information Core, , Hum Mutat, 1996, 10.1002/humu.1380080102
Generation of an integrated transcription map of the BRCA2 region on chromosome 13q12-q13, , Genomics, 1996, 10.1006/geno.1996.0428
Fine mapping of low-density lipoprotein receptor gene by genetic linkage on chromosome 19p13.1-p13.3 and study of the founder effect of four French Canadian low-density lipoprotein receptor gene mutations, , Atherosclerosis, 1999, 10.1016/s0021-9150(98)00267-6
An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA), , Breast Cancer Res, 2007, 10.1186/bcr1670
Antagonism between estrogens and androgens on GCDFP-15 gene expression in ZR-75-1 cells and correlation between GCDFP-15 and estrogen as well as progesterone receptor expression in human breast cancer, , J Steroid Biochem, 1989, 10.1016/0022-4731(89)90115-5
Publisher Correction: Personalized early detection and prevention of breast cancer: ENVISION consensus statement, , Nat Rev Clin Oncol, 2020, 10.1038/s41571-020-0412-0
Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers, , Hum Mol Genet, 2011, 10.1093/hmg/ddr388
Prospective validation of the BOADICEA multifactorial breast cancer risk prediction model in a large prospective cohort study., Antonis Antoniou, Hall P, Easton DF, Schmidt MK, Simard J, Mavaddat N, Carvalho S, Dorling L, Dennis J, Wang J, Lush M, Leslie G, Andrew Lee, Czene K, mikael eriksson, Xin Yang, Journal of medical genetics, 2022, 10.1136/jmg-2022-108806
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer, , Jama, 2015, 10.1001/jama.2014.5985
Differential Burden of Rare and Common Variants on Tumor Characteristics, Survival, and Mode of Detection in Breast Cancer, , Cancer Res, 2018, 10.1158/0008-5472.Can-18-1018
Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus, , Nat Commun, 2016, 10.1038/ncomms12675
Molecular genetics, structure-function relationships and tissue-specific expression and tissue-specific expression and regulation of the 3b-hydroxysteroid dehydrogenase/D5-D4 isomerase gene family, , Function of somatic cells in the testis, 1994
Androgens in post-menopause, , Riv Ostet Ginecol Prat Med Perinat, 1991
Potent antagonism between estrogens and androgens on GCDFP-15 expression and cell growth in the ZR-75-1 human breast cancer cells, , Ann N Y Acad Sci, 1990, 10.1111/j.1749-6632.1990.tb17805.x
Structure and expression of a new complementary DNA encoding the almost exclusive 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase in human adrenals and gonads, , Mol Endocrinol, 1991, 10.1210/mend-5-8-1147
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations, , Hum Mutat, 2018, 10.1002/humu.23406
A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers, , Cancer Epidemiol Biomarkers Prev, 2012, 10.1158/1055-9965.Epi-12-0229
Characterization of the structure-activity relationships of rat types I and II 3 beta-hydroxysteroid dehydrogenase/delta 5 -delta 4 isomerase by site-directed mutagenesis and expression in HeLa cells, , J Biol Chem, 1991
Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers, , Jama, 2017, 10.1001/jama.2017.7112
Description of the International Consortium For Prostate Cancer Genetics, and failure to replicate linkage of hereditary prostate cancer to 20q13, , Prostate, 2005, 10.1002/pros.20198
Codon 367 polymorphism of the human type I 3 beta-hydroxysteroid dehydrogenase/isomerase gene (HS5DB3), , Nucleic Acids Res, 1991, 10.1093/nar/19.21.6060
Prediction of breast cancer risk based on common genetic variants in women of East Asian ancestry, , Breast Cancer Res, 2016, 10.1186/s13058-016-0786-1
Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness, , Cancer Res, 2020, 10.1158/0008-5472.Can-19-1840
Association analysis identifies 65 new breast cancer risk loci, , Nature, 2017, 10.1038/nature24284
Dopaminergic regulation of pre-proNPY mRNA levels in the rat arcuate nucleus, , Neurosci Lett, 1991, 10.1016/0304-3940(91)90903-7
Mutation analysis and characterization of HSD17B2 sequence variants in breast cancer cases from French Canadian families with high risk of breast and ovarian cancer, , J Mol Endocrinol, 2008, 10.1677/jme-07-0101
Envisioning Implementation of a Personalized Approach in Breast Cancer Screening Programs: Stakeholder Perspectives, , Healthc Policy, 2019, 10.12927/hcpol.2019.26072
Should Age-Dependent Absolute Risk Thresholds Be Used for Risk Stratification in Risk-Stratified Breast Cancer Screening?, , J Pers Med, 2021, 10.3390/jpm11090916
Sources d'androgènes chez l'homme et traitement hormonal du cancer de la prostate (Chapter 16), , Endocrinologie Masculine, 1996
Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry, , Cancer Causes Control, 2016, 10.1007/s10552-016-0741-6
Linkage analysis of 26 Canadian breast and breast-ovarian cancer families, , Hum Genet, 1995, 10.1007/bf00223867
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer, , Nat Genet, 2013, 10.1038/ng.2566
Open science precision medicine in Canada: Points to consider, , Facets (Ott), 2019
Detection and functional characterization of the novel missense mutation Y254D in type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) gene of a female patient with nonsalt-losing 3 beta HSD deficiency, , J Clin Endocrinol Metab, 1994, 10.1210/jcem.78.3.8126127
Transcriptional signature of lymphoblastoid cell lines of BRCA1, BRCA2 and non-BRCA1/2 high risk breast cancer families, , Oncotarget, 2017, 10.18632/oncotarget.20219
Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study, , Breast Cancer Res, 2014, 10.1186/bcr3662
Le déficit en 3beta-hydroxystéroide déshydrogénase delta5-delta4 isomérase : hétérogénéité des formes cliniques et apport de la biologie, , Rev Fr Endocrinol Clin, 1994
Genome-wide association study of germline variants and breast cancer-specific mortality, , Br J Cancer, 2019, 10.1038/s41416-019-0393-x
Genome-wide association studies identify four ER negative-specific breast cancer risk loci, , Nat Genet, 2013, 10.1038/ng.2561
Localization of endogenous benzodiazepine ligand octadecaneuropeptide (ODN) and peripheral benzodiazepine receptors in the rat prostate, , Molecular Andrology, 1991
Expression of 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase (3 beta-HSD) and 17 beta-hydroxysteroid dehydrogenase (17 beta-HSD) in adipose tissue, , Int J Obes, 1991
Clinical management recommendations for surveillance and risk-reduction strategies for hereditary breast and ovarian cancer among individuals carrying a deleterious BRCA1 or BRCA2 mutation, , J Obstet Gynaecol Can, 2007, 10.1016/s1701-2163(16)32349-0
The human type II 17 beta-hydroxysteroid dehydrogenase gene encodes two alternatively spliced mRNA species, , DNA Cell Biol, 1995, 10.1089/dna.1995.14.849
Characterization of a novel mutation causing hepatic lipase deficiency among French Canadians, , J Lipid Res, 2003, 10.1194/jlr.M200479-JLR200
Variations of pre-prosomatostatin mRNA levels in the hypothalamic periventricular nucleus during the rat estrous cycle, , Mol Cell Neurosci, 1991
Rapid restriction fragment analysis for screening four point mutations of the low-density lipoprotein receptor gene in French Canadians, , Hum Mutat, 1995, 10.1002/humu.1380060307
No evidence of false reassurance among women with an inconclusive BRCA1/2 genetic test result, , Cancer Epidemiol Biomarkers Prev, 2005, 10.1158/1055-9965.Epi-05-0512
VEXOR: an integrative environment for prioritization of functional variants in fine-mapping analysis, , Bioinformatics, 2017, 10.1093/bioinformatics/btw826
Personalized early detection and prevention of breast cancer: ENVISION consensus statement, , Nat Rev Clin Oncol, 2020, 10.1038/s41571-020-0388-9
Pooled analysis indicates that the GSTT1 deletion, GSTM1 deletion, and GSTP1 Ile105Val polymorphisms do not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers, , Breast Cancer Res Treat, 2010, 10.1007/s10549-009-0601-0
Rare germline copy number variants (CNVs) and breast cancer risk., Haiman CA, Hahnen E, Pascal Guenel, González-Neira A, Graham Giles, Montserrat Garcia-Closas, Gago-Dominguez M, Marike Gabrielson, Lin Fritschi, Flyger H, Fletcher O, Jonine Figueroa, Fasching PA, Gareth Evans, mikael eriksson, Eliassen AH, Laure Dossus, Thilo Dörk, Devilee P, Czene K, Cross SS, Angela Cox, Couch FJ, CTS Consortium, Collée JM, NBCS Collaborators, Clarke CL, Chenevix-Trench G, Chang-Claude J, Jose E Castelao, Hermann Brenner, Stig Bojesen, Bogdanova NV, Bermisheva M, Benitez J, Sabine Behrens, Beckmann MW, Freeman LEB, Kristan Aronson, Volker Arndt, Antonenkova NN, Anton-Culver H, Qin Wang, Ahearn TU, Irene L. Andrulis, Bolla MK, Dorling L, Kyriaki Michailidou, Logan Walker, Jonathan Tyrer, Joe Dennis, Communications biology, 2022, 10.1038/s42003-021-02990-6
High risk genes predisposing to prostate cancer development-do they exist?, , Prostate Cancer Prostatic Dis, 2000, 10.1038/sj.pcan.4500478
Age at menarche and menopause and breast cancer risk in the International BRCA1/2 Carrier Cohort Study, , Cancer Epidemiol Biomarkers Prev, 2007, 10.1158/1055-9965.Epi-06-0829
Cancer : What are the role and sources of steroid hormones and the possible role of adipose tissue?, , Progress in obesity research, 1996
Intracrinology: the basis for the rational design of endocrine therapy at all stages of prostate cancer, , Eur Urol, 1993, 10.1159/000474399
Intracrinology and hormone-dependent cancers, , Epitheorese klinikes farmakologias kai farmakokinetikes = Review of clinical pharmacology and pharmacokinetics, 1997
Structure and tissue-specific expression of 3 beta-hydroxysteroid dehydrogenase/5-ene-4-ene isomerase genes in human and rat classical and peripheral steroidogenic tissues, , J Steroid Biochem Mol Biol, 1992, 10.1016/0960-0760(92)90368-s
Adrenal C19-5-ene steroids induce full estrogenic responses in rat pituitary gonadotrophs, , J Steroid Biochem, 1987, 10.1016/0022-4731(87)90005-7
Is dehydroepiandrosterone a hormone?, , J Endocrinol, 2005, 10.1677/joe.1.06264
Two truncating variants in FANCC and breast cancer risk, , Sci Rep, 2019, 10.1038/s41598-019-48804-y
Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2., Domchek SM, Nathanson KL, Montagna M, Offit K, Rantala J, Borg A, Pejovic T, van Overeem Hansen T, Nielsen FC, Nikitina-Zake L, Janavicius R, James PA, Vellone VG, Gismondi V, Varesco L, Danesi R, Zampiga V, Dhawan M, Heli Nevanlinna, Miguel de la Hoya, Ana Vega, Susan Neuhausen, HEBON Investigators, Inge Søkilde Pedersen, Amanda Ewart Toland, Peter Hulick, Lazaro C, Wendy Chung, Manuel R. Teixeira, Claes KBM, Mai PL, Caligo MA, Soucy P, Jacques Simard, Bane A, Adalgeir Arason, Andrew Godwin, Anna Jakubowska, Jeffrey Weitzel, Hake CR, Daly MB, Sharma P, Irene L. Andrulis, Imyanitov EN, Hamann U, John EM, Hadjisavvas A, Nicola S Meagher, Southey MC, Susan Ramus, Denise G. O'Mahony, British journal of cancer, 2023, 10.1038/s41416-023-02263-5
Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer, , Carcinogenesis, 2015, 10.1093/carcin/bgu326
Parallel solid-phase synthesis of a model library of 7alpha-alkylamide estradiol derivatives as potential estrogen receptor antagonists, , Bioorg Med Chem Lett, 1999, 10.1016/s0960-894x(99)00487-4
Effect of chest X-rays on the risk of breast cancer among BRCA1/2 mutation carriers in the international BRCA1/2 carrier cohort study: a report from the EMBRACE, GENEPSO, GEO-HEBON, and IBCCS Collaborators' Group, , J Clin Oncol, 2006, 10.1200/jco.2005.03.3126
Genetic linkage mapping of the dehydroepiandrosterone sulfotransferase (STD) gene on the chromosome 19q13.3 region, , Genomics, 1995, 10.1006/geno.1995.9935
BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors, , Genet Med, 2019, 10.1038/s41436-018-0406-9
Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families, , Nat Genet, 1994, 10.1038/ng1294-392
Genetic predisposition to ductal carcinoma in situ of the breast, , Breast Cancer Res, 2016, 10.1186/s13058-016-0675-7
Males With 17[beta]-Hydroxysteroid Dehydrogenase Deficiency, , Endocrinologist, 2003
SNP-SNP interaction analysis of NF-κB signaling pathway on breast cancer survival, , Oncotarget, 2015, 10.18632/oncotarget.4991
Structure and control of expression of the 3b-HSD and 17b-HSD genes in classical steroidogenic and peripheral intracrine tissues, , Molecular Basis of Reproductive Endocrinology, 1993
New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes, , J Clin Endocrinol Metab, 1999, 10.1210/jcem.84.12.6288
The AIB1 polyglutamine repeat does not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers, , Cancer Epidemiol Biomarkers Prev, 2006, 10.1158/1055-9965.Epi-05-0709
Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene, , Nat Genet, 1992, 10.1038/ng0792-239
Localization of peripheral benzodiazepine binding sites and diazepam-binding inhibitor (DBI) mRNA in mammary glands and dimethylbenz(a)antracene (DMBA)-induced mammary tumors in the rat, , Regul Pept, 1991, 10.1016/0167-0115(91)90229-a
Identification of three mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians, , Hum Mutat, 1998, 10.1002/humu.1380110173
The challenge of connecting genomic knowledge to disease prevention: a Canadian integrative experience, , Community genetics: Past and future, 2002
Do women change their breast cancer mammogram screening behaviour after BRCA1/2 testing?, , Fam Cancer, 2017, 10.1007/s10689-016-9920-6
Atrial natriuretic factor does not affect basal, forskolin- and CRF-stimulated adenylate cyclase activity, cAMP formation or ACTH secretion, but does stimulate cGMP synthesis in anterior pituitary, , Mol Cell Endocrinol, 1986, 10.1016/0303-7207(86)90054-7
The association between weight at birth and breast cancer risk revisited using Mendelian randomisation, , Eur J Epidemiol, 2019, 10.1007/s10654-019-00485-7
Breast Cancer Risk Estimation and Personal Insurance: A Qualitative Study Presenting Perspectives from Canadian Patients and Decision Makers, , Front Genet, 2017, 10.3389/fgene.2017.00128
Influence of the family cluster effect on psychosocial variables in families undergoing BRCA1/2 genetic testing for cancer susceptibility, , Psychooncology, 2012, 10.1002/pon.1936
Isolation and sequence of the human glucocorticoid receptor gene promoter, , Steroid receptors in health and disease, 1988
Genetic linkage mapping of the human steroid 5 alpha-reductase type 2 gene (SRD5A2) close to D2S352 on chromosome region 2p23-->p22, , Cytogenet Cell Genet, 1996, 10.1159/000134362
Synergistic action of prolactin (PRL) and androgen on PRL-inducible protein gene expression in human breast cancer cells: a unique model for functional cooperation between signal transducer and activator of transcription-5 and androgen receptor, , Mol Endocrinol, 2002, 10.1210/mend.16.7.0875
Inherited Chromosomally Integrated Human Herpesvirus 6 and Breast Cancer, , Cancer Epidemiol Biomarkers Prev, 2017, 10.1158/1055-9965.Epi-16-0735
The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds, , Nat Genet, 1996, 10.1038/ng0396-333
The 3b-hydroxysteroid dehydrogenase/isomerase gene family: lessons from type II 3ß-HSD congenital deficiency, , Signal transduction in testicular cells: basic and clinical aspects, 1996
Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry. , Evans DG, Engel C, Eliassen AH, Ekici AB, Diana M Eccles, Dwek M, Dossus L, Thilo Dörk, Devilee P, Daly MB, Czene K, Couch FJ, Cornelissen S, CTS Consortium, Colonna SV, NBCS Collaborators, Chung WK, Choi JY, Chanock SJ, Chang-Claude J, Chan TL, Castelao JE, Buys SS, Brucker SY, Hermann Brenner, Bonanni B, Stig Bojesen, Bogdanova NV, Blomqvist C, Bermisheva M, Benitez J, Behrens S, Beckmann MW, Freeman LEB, Baert T, Augustinsson A, Aronson KJ, Arndt V, Antonenkova NN, Anton-Culver H, Andrulis IL, Ahearn TU, Abu-Ful Z, Lush M, Dennis J, Wang Q, Bolla MK, Michailidou K, Valkovskaya M, Alvina Lai, Mueller SH, Genome medicine, 2023, 10.1186/s13073-022-01152-5
A network analysis to identify mediators of germline-driven differences in breast cancer prognosis, , Nat Commun, 2020, 10.1038/s41467-019-14100-6
CYP17 and breast cancer: no overall effect, but what about interactions?, , Breast Cancer Res, 2005, 10.1186/bcr1320
Synthesis and structure-activity relationships of analogs of EM-652 (acolbifene), a pure selective estrogen receptor modulator. Study of nitrogen substitution, , J Enzyme Inhib Med Chem, 2005, 10.1080/14756360500043448
Occurrence of cytochrome P450c17 mRNA and dehydroepiandrosterone biosynthesis in the rat gastrointestinal tract, , Mol Cell Endocrinol, 1995, 10.1016/0303-7207(95)03553-j
Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer, , Int J Cancer, 2016, 10.1002/ijc.30150
Body mass index and the association between low-density lipoprotein cholesterol as predicted by HMGCR genetic variants and breast cancer risk, , Int J Epidemiol, 2019, 10.1093/ije/dyz047
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS, , J Med Genet, 2016, 10.1136/jmedgenet-2016-103839
Variations of pre-proNPY mRNA in the arcuate nucleus during the rat estrous cycle, , Neuroreport, 1992, 10.1097/00001756-199203000-00009
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer, , Nat Genet, 2017, 10.1038/ng.3826
Crucial role of cytokines in sex steroid formation in normal and tumoral tissues, , Mol Cell Endocrinol, 2001, 10.1016/s0303-7207(00)00387-7
Increased Use of BRCA Mutation Test in Unaffected Women Over the Period 2004-2014 in the U.S.: Further Evidence of the "Angelina Jolie Effect"?, , Am J Prev Med, 2017, 10.1016/j.amepre.2017.05.016
Molecular biology of the 3beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase gene family, , Endocr Rev, 2005, 10.1210/er.2002-0050
Structure-function relationships of multiple rat members of the 3b-hydroxysteroid dehydrogenase family (Chapter 14), , Molecular Basis of Reproductive Endocrinology, 1993
Correction: BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors, , Genet Med, 2019, 10.1038/s41436-019-0459-4
Localization of BRCA1 gene expression in adult cynomolgus monkey tissues, , J Histochem Cytochem, 1997, 10.1177/002215549704500901
Regulation of progesterone-binding breast cyst protein GCDFP-24 secretion by estrogens and androgens in human breast cancer cells: a new marker of steroid action in breast cancer, , Endocrinology, 1990, 10.1210/endo-126-6-3223
Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk, , Sci Rep, 2020, 10.1038/s41598-020-65665-y
The Passing of Dr. Fernand Labrie (1937-2019): The legacy of excellence in science, , J Steroid Biochem Mol Biol, 2019, 10.1016/j.jsbmb.2019.02.005
Full oestrogenic activity of C19-delta 5 adrenal steroids in rat pituitary lactotrophs and somatotrophs, , Mol Cell Endocrinol, 1988, 10.1016/0303-7207(88)90138-4
Genome- and transcriptome-wide association studies of 386,000 Asian and European-ancestry women provide new insights into breast cancer genetics., Kang D, Soo Teo, Pharoah PDP, Dunning AM, Zheng Y, Yamaji T, Wu AH, Tsugane S, Tseng C, Takahashi A, Spinelli JJ, Shin MH, Shen CY, Park MH, Park B, Noh DY, Muir K, Matsuo K, Matsuda K, Low SK, Mariapun S, Lophatananon A, Li J, Kwong A, Allison Kurian, Kim MK, Kasuga Y, John EM, Iwata H, Iwasaki M, Ito H, WEANG KEE HO, Hartman M, Gao YT, Chan TL, Aronson KJ, Tao R, Li B, Guo X, Wang Q, Dennis J, Bolla MK, Park SK, Kubo M, Choi JY, Kweon SS, Cai Q, Yang Y, Shu X, Ping J, Jia G, American journal of human genetics, 2022, 10.1016/j.ajhg.2022.10.011
Correction to: Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers, , Breast Cancer Res, 2020, 10.1186/s13058-020-01259-w
Characteristics of interaction of the antiandrogen flutamide with the androgen receptor in various target tissues, , Mol Cell Endocrinol, 1986, 10.1016/0303-7207(86)90132-2
Localization and regulation of expression of the FAR-17A gene in the hamster flank organs, , J Invest Dermatol, 1996, 10.1111/1523-1747.ep12297867
Functional Analysis of Promoter Variants in Genes Involved in Sex Steroid Action, DNA Repair and Cell Cycle Control, , Genes (Basel), 2019, 10.3390/genes10030186
Are ATM mutations 7271T-->G and IVS10-6T-->G really high-risk breast cancer-susceptibility alleles?, , Cancer Res, 2004, 10.1158/0008-5472.can-03-2678
Identification and characterization of the G15D mutation found in a male patient with 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency: alteration of the putative NAD-binding domain of type II 3 beta-HSD, , Biochemistry, 1995, 10.1021/bi00009a020
Opposite effects of prolactin and corticosterone on the expression and activity of 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase in rat skin, , J Invest Dermatol, 1994, 10.1111/1523-1747.ep12389663
Localization of 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase in rat gonads and adrenal glands by immunocytochemistry and in situ hybridization, , Endocrinology, 1990, 10.1210/endo-127-3-1394
DHEA and its transformation into androgens and estrogens in peripheral target tissues: intracrinology, , Front Neuroendocrinol, 2001, 10.1006/frne.2001.0216
Opposite effects of estrogen and the progestin R5020 on cell proliferation and GCDFP-15 expression in ZR-75-1 human breast cancer cells, , Mol Cell Endocrinol, 1990, 10.1016/0303-7207(90)90130-z
History of LHRH agonist and combination therapy in prostate cancer, , Endocr Relat Cancer, 1996
Identification of new genetic susceptibility loci for breast cancer through consideration of gene-environment interactions, , Genet Epidemiol, 2014, 10.1002/gepi.21771
Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers, , Am J Hum Genet, 2013, 10.1016/j.ajhg.2013.01.002
Molecular biology and genetics of the 3 beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase gene family, , J Endocrinol, 1996
Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association Consortium, , Hum Genet, 2016, 10.1007/s00439-015-1616-8
Partnering in oncogenetic research--the INHERIT BRCAs experience: opportunities and challenges, , Fam Cancer, 2006, 10.1007/s10689-005-2570-8
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes, , Nat Genet, 2020, 10.1038/s41588-019-0537-1
Mapping of the regulatory subunits RI beta and RII beta of cAMP-dependent protein kinase genes on human chromosome 7, , Genomics, 1992, 10.1016/s0888-7543(05)80284-8
Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer, , Nat Commun, 2019, 10.1038/s41467-018-08053-5
Identification of novel breast cancer susceptibility loci in meta-analyses conducted among Asian and European descendants, , Nat Commun, 2020, 10.1038/s41467-020-15046-w
Stimulation of apolipoprotein D secretion by steroids coincides with inhibition of cell proliferation in human LNCaP prostate cancer cells, , Cancer Res, 1991
Ontogeny and subcellular localization of 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) in the human and rat adrenal, ovary and testis, , J Steroid Biochem Mol Biol, 1992, 10.1016/0960-0760(92)90084-v
Reply by the authors to : Editorial Comment of : Comparison of in vitro effects of the pure antiandrogens OH-flutamide, casodex, and nilutamide on androgen-sensitive parameters, , Urology, 1997
Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers, , PLoS One, 2016, 10.1371/journal.pone.0158801
European polygenic risk score for prediction of breast cancer shows similar performance in Asian women, , Nat Commun, 2020, 10.1038/s41467-020-17680-w
Variations in Rates: why we need clinical management recommendations, , Open Med, 2007
Genetic sequence variations of BRCA1-interacting genes AURKA, BAP1, BARD1 and DHX9 in French Canadian families with high risk of breast cancer, , J Hum Genet, 2009, 10.1038/jhg.2009.6
Characterization of human 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase gene and its expression in mammalian cells, , J Biol Chem, 1990
Gonadotropin-releasing hormone agonists in the treatment of prostate cancer, , Endocr Rev, 2005, 10.1210/er.2004-0017
Genetic linkage mapping of the CYP11A1 gene encoding the cholesterol side-chain cleavage P450scc close to the CYP1A1 gene and D15S204 in the chromosome 15q22.33-q23 region, , Pharmacogenetics, 1998, 10.1097/00008571-199802000-00007
Characterization and modulation of sex steroid metabolizing activity in normal human keratinocytes in primary culture and HaCaT cells, , J Steroid Biochem Mol Biol, 2003, 10.1016/j.jsbmb.2003.08.006
The gene for hereditary breast-ovarian cancer, BRCA1, maps distal to EDH17B2 in chromosome region 17q12-q21, , Hum Mol Genet, 1994, 10.1093/hmg/3.9.1679
COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration, , Breast Cancer Res, 2013, 10.1186/bcr3434
Localization of the endogenous benzodiazepine ligand octadecaneuropeptide in the rat testis, , Endocrinology, 1990, 10.1210/endo-127-4-1986
Rapid modulation of ovarian 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase gene expression by prolactin and human chorionic gonadotropin in the hypophysectomized rat, , Mol Cell Endocrinol, 1994, 10.1016/0303-7207(94)90147-3
Interactions between estrogens, androgens, progestins, and glucocorticoids in ZR-75-1 human breast cancer cells, , Ann N Y Acad Sci, 1990, 10.1111/j.1749-6632.1990.tb34288.x
Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade, , Hum Mol Genet, 2014, 10.1093/hmg/ddu300
BRCA1 gene expression in reproductive and endocrine tissues in adult cynomolgus monkey, , Ann N Y Acad Sci, 1998, 10.1111/j.1749-6632.1998.tb10828.x
Endocrine and intracrine sources of androgens in women: inhibition of breast cancer and other roles of androgens and their precursor dehydroepiandrosterone, , Endocr Rev, 2003, 10.1210/er.2001-0031
Enhancing the BOADICEA cancer risk prediction model to incorporate new data on RAD51C, RAD51D, BARD1 updates to tumour pathology and cancer incidence., Antonis Antoniou, Easton DF, Paul Pharoah, Mooij TM, Rookus M, De Pauw A, Mouret-Fourme E, Jürgens H, Vesna Zadnik, Peter Devilee, Schmidt MK, Simard J, Usher-Smith J, Roberts J, Tischkowitz M, Walter FM, Archer S, Lorenzo Ficorella, Carver T, Cunningham A, Mavaddat N, Andrew Lee, Journal of medical genetics, 2022, 10.1136/jmedgenet-2022-108471
A Collaborative Model to Implement Flexible, Accessible and Efficient Oncogenetic Services for Hereditary Breast and Ovarian Cancer: The C-MOnGene Study, , Cancers (Basel), 2021, 10.3390/cancers13112729
Structure-function relationships and molecular genetics of the 3 beta-hydroxysteroid dehydrogenase gene family, , J Steroid Biochem Mol Biol, 1995, 10.1016/0960-0760(95)00198-0
Using the impact of event scale to evaluate distress in the context of genetic testing for breast cancer susceptibility, , Psychol Rep, 2006, 10.2466/pr0.98.3.873-881
Localization of the human gene for the type I cyclic GMP-dependent protein kinase to chromosome 10, , Cytogenet Cell Genet, 1992, 10.1159/000133267
Expression of liver-specific member of the 3 beta-hydroxysteroid dehydrogenase family, an isoform possessing an almost exclusive 3-ketosteroid reductase activity, , J Biol Chem, 1992
[Structure and expression of the genes encoding the enzymes for ovarian and peripheral steroidogenesis], , J Gynecol Obstet Biol Reprod (Paris), 1992
SNP Set Association Testing for Survival Outcomes in the Presence of Intrafamilial Correlation, , Genet Epidemiol, 2015, 10.1002/gepi.21914
Role of 17 beta-hydroxysteroid dehydrogenases in sex steroid formation in peripheral intracrine tissues, , Trends Endocrinol Metab, 2000, 10.1016/s1043-2760(00)00342-8
Proceedings of the Xth International Congress on Hormonal Steroids. Quebec City, Canada 17-21 June 1998, , 1999
Combination therapy for prostate cancer. Endocrine and biologic basis of its choice as new standard first-line therapy, , Cancer, 1993, 10.1002/1097-0142(19930201)71:3+<1059::aid-cncr2820711426>3.0.co;2-6
Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model., Douglas Easton, Antonis Antoniou, Jacques Simard, Dr. Judith Balmaña, Lidia Feliubadaló, Monica Pardo Muñoz, Wendy Chung, Cong Liu, Stig Bojesen, Anna Chiarelli, Tong Zhang, Gregory S Downs, Tracy Stockley, Rita Schmutzler, Eric Hahnen, Donglei Hu, Kate Downes, Marc Tischkowitz, Joe Dennis, Michael Lush, Alex Cunningham, Andrew Lee, Tim, Lorenzo Ficorella, Nasim Mavaddat, Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 2023, 10.1158/1055-9965.epi-22-0756
Ontogenesis of 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase in the rat adrenal as revealed by immunocytochemistry and in situ hybridization, , Endocrinology, 1991, 10.1210/endo-129-5-2687
Mechanisms of action of estrogens and antiestrogens, , The menopause at the millennium: proceedings of the 9th World Congress on the Menopause, 2000
Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation, , Am J Hum Genet, 2016, 10.1016/j.ajhg.2016.07.017
Genetic testing, physicians and the law: will the tortoise ever catch up with the hare?, , Ann Health Law, 2010
A new insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency, , Endocr Res, 2000, 10.3109/07435800009048597
Regulation of 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase expression and activity in the hypophysectomized rat ovary: interactions between the stimulatory effect of human chorionic gonadotropin and the luteolytic effect of prolactin, , Endocrinology, 1990, 10.1210/endo-127-6-2726
EM-652 (SCH 57068), a third generation SERM (selective estrogen receptor modulator), acting as pure antiestrogen in the mammary gland and endometrium, , Current knowledge in reproductive medicine: proceedings of the 10th World Congress on Human Reproduction, Salvador, Brazil, 4-8th May, 1999, 2000
Clinical follow-up and breast and ovarian cancer screening of true BRCA1/2 noncarriers: a qualitative investigation, , Genet Med, 2016, 10.1038/gim.2015.135
Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers, , J Clin Oncol, 2013, 10.1200/jco.2012.47.8313
Impact de l'intracrinologie dans la thérapeutique et le prévention des cancers du sein et de la prostate, et de la ménopause, , Rev Fr Endocrinol Clin, 1999
RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies, , Am J Hum Genet, 2007, 10.1086/522611
A candidate prostate cancer susceptibility gene at chromosome 17p, , Nat Genet, 2001, 10.1038/84808
Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families, , BMC Cancer, 2006, 10.1186/1471-2407-6-230
The emergence of an ethical duty to disclose genetic research results: international perspectives, , Eur J Hum Genet, 2006, 10.1038/sj.ejhg.5201690
Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3, , Breast Cancer Res Treat, 2017, 10.1007/s10549-016-4018-2
Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers, , Breast Cancer Res, 2020, 10.1186/s13058-020-1247-4
The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations. The BRCA1 Exon 13 Duplication Screening Group, , Am J Hum Genet, 2000
Oral contraceptives and breast cancer risk in the international BRCA1/2 carrier cohort study: a report from EMBRACE, GENEPSO, GEO-HEBON, and the IBCCS Collaborating Group, , J Clin Oncol, 2007, 10.1200/jco.2007.11.1179
Type I protein C deficiency in French Canadians: evidence of a founder effect and association of specific protein C gene mutations with plasma protein C levels, , Thromb Haemost, 1998
Down-regulation of estrogen receptors by androgens in the ZR-75-1 human breast cancer cell line, , Endocrinology, 1989, 10.1210/endo-125-1-392
Blockade of the stimulatory effect of estrogens, OH-tamoxifen, OH-toremifene, droloxifene, and raloxifene on alkaline phosphatase activity by the antiestrogen EM-800 in human endometrial adenocarcinoma Ishikawa cells, , Cancer Res, 1997
Relative potency of bicalutamide (Casodex) and flutamide (Eulexin) (Letter to the Editor : reply to Kolvenbag GJ et al; 50:913-919, 1997), , Urology, 1999
Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1, , Am J Hum Genet, 2015, 10.1016/j.ajhg.2014.11.009
Multiple novel prostate cancer susceptibility signals identified by fine-mapping of known risk loci among Europeans, , Hum Mol Genet, 2015, 10.1093/hmg/ddv203
Effectiveness of risk-reducing salpingo-oophorectomy in preventing ovarian cancer in a high-risk French Canadian population, , Int J Gynecol Cancer, 2012, 10.1097/IGC.0b013e318257b936
Somatostatin prevents the desensitizing action of growth hormone-releasing factor on growth hormone release, , Peptides, 1987, 10.1016/0196-9781(87)90090-8
17beta-hydroxysteroid dehydrogenase (HSD)/17-ketosteroid reductase (KSR) family; nomenclature and main characteristics of the 17HSD/KSR enzymes, , J Mol Endocrinol, 1999, 10.1677/jme.0.0230001
Analysis of multivariate failure times in the presence of selection bias with application to breast cancer, , J R Stat Soc Ser C Appl Stat, 2015
Localization of peptide gene expression by in situ hybridization at the electron microscopic level, , Gene probes, 1989
Assignment of the gene encoding the catalytic subunit C beta of cAMP-dependent protein kinase to the p36 band on chromosome 1, , Hum Genet, 1992, 10.1007/bf02265292
Results of a genome-wide linkage analysis in prostate cancer families ascertained through the ACTANE consortium, , Prostate, 2003, 10.1002/pros.10301
Keoxifene shows pure antiestrogenic activity in pituitary gonadotrophs, , Mol Cell Endocrinol, 1985, 10.1016/0303-7207(85)90131-5
Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation, , Nat Commun, 2018, 10.1038/ncomms16193
Shared heritability and functional enrichment across six solid cancers, , Nat Commun, 2019, 10.1038/s41467-018-08054-4
Structure of primate and rodent orthologs of the prostate cancer susceptibility gene ELAC2, , Biochim Biophys Acta, 2004, 10.1016/j.bbaexp.2004.07.001
HRT use among women tested for BRCA1/2 mutations following publication of the women's health initiative study results, , J Obstet Gynaecol Can, 2005, 10.1016/s1701-2163(16)30455-8
No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer, , Gynecol Oncol, 2016, 10.1016/j.ygyno.2015.04.034
BRCA1 and BRCA2 mutation predictions using the BOADICEA and BRCAPRO models and penetrance estimation in high-risk French-Canadian families, , Breast Cancer Res, 2006, 10.1186/bcr1365
Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types, , Cancer Discov, 2016, 10.1158/2159-8290.Cd-15-1227
Life events may contribute to family communication about cancer risk following BRCA1/2 testing, , J Genet Couns, 2013, 10.1007/s10897-012-9531-9
Women’s perceptions of PERSPECTIVE: a breast cancer risk stratification e-platform, Carmen Loiselle, Jacques Simard, Michel Dorval, Bartha Knoppers, Rosalind Garland, Emmanuelle Lévesque, Saima Ahmed, Hereditary Cancer in Clinical Practice, 2022, 10.1186/s13053-022-00214-4
Molecular basis of congenital adrenal hyperplasia in two siblings with classical nonsalt-losing 3 beta-hydroxysteroid dehydrogenase deficiency, , J Clin Endocrinol Metab, 1994, 10.1210/jcem.79.4.7962268
The knowledge value-chain of genetic counseling for breast cancer: an empirical assessment of prediction and communication processes, , Fam Cancer, 2016, 10.1007/s10689-015-9835-7
Comparison of in vitro effects of the pure antiandrogens OH-flutamide, Casodex, and nilutamide on androgen-sensitive parameters, , Urology, 1997, 10.1016/s0090-4295(97)00029-0
Breast and ovarian cancer screening of non-carriers from BRCA1/2 mutation-positive families: 2-year follow-up of cohorts from France and Quebec, , Eur J Hum Genet, 2011, 10.1038/ejhg.2010.227
Prospective evaluation of a breast-cancer risk model integrating classical risk factors and polygenic risk in 15 cohorts from six countries, , Int J Epidemiol, 2021, 10.1093/ije/dyab036
Structure and tissue-specific expression of a novel member of the rat 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase (3 beta-HSD) family. The exclusive 3 beta-HSD gene expression in the skin, , J Biol Chem, 1993
Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis, , Int J Epidemiol, 2019, 10.1093/ije/dyy201
Additive stimulatory action of glucocorticoids and androgens on basal and estrogen-repressed apolipoprotein-D messenger ribonucleic acid levels and secretion in human breast cancer cells, , Endocrinology, 1992, 10.1210/endo.130.3.1537279
A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening, , Jama, 1995
Potent stimulatory effect of interleukin-1 alpha on apolipoprotein D and gross cystic disease fluid protein-15 expression in human breast-cancer cells, , Int J Cancer, 1994, 10.1002/ijc.2910590319
Systematic mixed-methods reviews are not ready to be assessed with the available tools, , J Clin Epidemiol, 2011, 10.1016/j.jclinepi.2011.01.002
DSNetwork: An Integrative Approach to Visualize Predictions of Variants' Deleteriousness, , Front Genet, 2019, 10.3389/fgene.2019.01349
BRCA1 mutations in Ashkenazi Jewish women, , Am J Hum Genet, 1995
Characterization of the guinea pig 3beta-hydroxysteroid dehydrogenase/Delta5-Delta4-isomerase expressed in the adrenal gland and gonads, , J Steroid Biochem Mol Biol, 2005, 10.1016/j.jsbmb.2005.05.011
Flutamide in combination with castration (surgical or medical) is the standard treatment in advanced prostate cancer, , Journal of drug development, 1987
No evidence of excessive cancer screening in female noncarriers from BRCA1/2 mutation-positive families, , Curr Oncol, 2017, 10.3747/co.24.3759
Factors associated with an individual's decision to withdraw from genetic testing for breast and ovarian cancer susceptibility: implications for counseling, , Genet Test, 2007, 10.1089/gte.2006.9998
Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores, , J Clin Oncol, 2017, 10.1200/jco.2016.69.4935
Distribution of 17 beta-hydroxysteroid dehydrogenase gene expression and activity in rat and human tissues, , J Steroid Biochem Mol Biol, 1992, 10.1016/0960-0760(92)90390-5
Medical genetic counseling for breast cancer in primary care: a synthesis of major determinants of physicians' practices in primary care settings, , Public Health Genomics, 2014, 10.1159/000362358
Detection of a novel mutation (stop 468) in exon 10 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians, , Hum Mol Genet, 1994, 10.1093/hmg/3.9.1689
The Tumor Suppressor PALB2: Inside Out, , Trends Biochem Sci, 2019, 10.1016/j.tibs.2018.10.008
Androgen receptor antagonists (Chapter 28), , Reproductive endocrinology, surgery, and technology, 1996
Legal liability and the uncertain nature of risk prediction: the case of breast cancer risk prediction models, , Public Health Genomics, 2012, 10.1159/000342138
Multiple signal transduction pathways mediate interleukin-4-induced 3beta-hydroxysteroid dehydrogenase/Delta5-Delta4 isomerase in normal and tumoral target tissues, , J Steroid Biochem Mol Biol, 2001, 10.1016/s0960-0760(00)00148-5
Guidelines for disclosing genetic information to family members: from development to use, , Fam Cancer, 2006, 10.1007/s10689-005-2581-5
Mendelian randomisation study of smoking exposure in relation to breast cancer risk, , Br J Cancer, 2021, 10.1038/s41416-021-01432-8
Mutation analysis of the BRCA1 gene in 23 families with cases of cancer of the breast, ovary, and multiple other sites, , J Med Genet, 1996, 10.1136/jmg.33.10.814
The key role of 17 beta-hydroxysteroid dehydrogenases in sex steroid biology, , Steroids, 1997, 10.1016/s0039-128x(96)00174-2
ABRAXAS (FAM175A) and Breast Cancer Susceptibility: No Evidence of Association in the Breast Cancer Family Registry, , PLoS One, 2016, 10.1371/journal.pone.0156820
Binding of a member of the NF1 family of transcription factors to two distinct cis-acting elements in the promoter and 5'-flanking region of the human cellular retinol binding protein 1 gene, , Mol Endocrinol, 1994, 10.1210/mend.8.6.7935489
An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers, , Breast Cancer Res, 2015, 10.1186/s13058-015-0567-2
Hérédité et cancer du sein : les gènes de susceptibilité BRCA1 et BRCA2, , Actualité Médicale, 1999
Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair, , Nat Genet, 2015, 10.1038/ng.3412
Atrial natriuretic factor-induced cGMP accumulation in rat anterior pituitary cells in culture is not coupled to hormonal secretion, , Regul Pept, 1986, 10.1016/0167-0115(86)90068-6
Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium, Douglas F. Easton, Antonis C. Antoniou, Thea M. Mooij, Flora E. van Leeuwen, David Goldgar, Mary Beth Terry, Kelly-Anne Phillips, Roger L. Milne, Rita K. Schmutzler, Jacques Simard, Johanna Rantala, Annelie Augustinsson, Yen Tan, Christian F. Singer, Anna Jakubowska, Edith Olah, Anne-Marie Gerdes, Dita Berkova, Lenka Foretova, Ana Osorio, Miguel de la Hoya, Melissa C. Southey, Mary B. Daly, Irene L. Andrulis, Sarah V. Colonna, Jennie Murray, Saba Sharif, Hannah Musgrave, Katie Snape, Vishakha Tripathi, Louise Izatt, Jackie Cook, Fiona Lalloo, Marc Tischkowitz, D. Gareth Evans, Marijke R. Wevers, Irma van de Beek, Encarnacion B. Gomez Garcia, Margreet G. E. M. Ausems, Marjanka K. Schmidt, Lucie Salle, Véronique Mari, Pascaline Berthet, Jean-Pierre Fricker, Emmanuelle Mouret-Fourme, Christine Lasset, Catherine Noguès, Nadine Andrieu, John L. Hopper, Esther M. John, Karin Kast, Breast Cancer Research, 2023, 10.1186/s13058-023-01673-w
Adrenal steroids exert potent estrogen action in both normal and cancer tissue, , Hormonal manipulation of cancer: peptides, growth factors, and new (anti)steroidal agents, 1987
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women, , N Engl J Med, 2021, 10.1056/NEJMoa1913948
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170, , Nat Genet, 2016, 10.1038/ng.3521
Analysis of 17beta-hydroxysteroid dehydrogenase types 5, 7, and 12 genetic sequence variants in breast cancer cases from French Canadian Families with high risk of breast and ovarian cancer, , J Steroid Biochem Mol Biol, 2009, 10.1016/j.jsbmb.2009.05.005
Molecular cloning, upstream sequence and promoter studies of the human gene for the regulatory subunit RII alpha of cAMP-dependent protein kinase, , Biochim Biophys Acta, 1997, 10.1016/s0167-4781(96)00152-2
New concepts on the androgen sensitivity of prostate cancer, , Prog Clin Biol Res, 1987
BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers, , J Natl Cancer Inst, 2016, 10.1093/jnci/djv315
Androgens and breast cancer, , Cancer Detect Prev, 1992
Polymorphic variations in the FANCA gene in high-risk non-BRCA1/2 breast cancer individuals from the French Canadian population, , Mol Oncol, 2013, 10.1016/j.molonc.2012.08.002
Pure selective estrogen receptor modulators, new molecules having absolute cell specificity ranging from pure antiestrogenic to complete estrogen-like activities, , Adv Protein Chem, 2001, 10.1016/s0065-3233(01)56009-x
DHEA and sex steroids : intracrinology in target tissues (Reprinted from Journal of endocrinology, vol. 150, supplement, September 1996), , 1996
Dinucleotide repeat polymorphisms in the HSD3B2 gene, , Hum Mol Genet, 1994, 10.1093/hmg/3.2.384
Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs), , Sci Rep, 2016, 10.1038/srep32512
Role of DHEA transformation into androgens and estrogens in peripheral intracrine tissues, , DHEA: a comprehensive review, 1999
Disentangling the determinants of interest and willingness-to-pay for breast cancer susceptibility testing in the general population: a cross-sectional Web-based survey among women of Québec (Canada), , BMJ Open, 2018, 10.1136/bmjopen-2017-016662
A Systematic Review and Critical Assessment of Breast Cancer Risk Prediction Tools Incorporating a Polygenic Risk Score for the General Population, Hermann Nabi, Jacques Simard, Julie Lapointe, Cornelia D. Kazemali, Nora Pashayan, Cynthia Mbuya-Bienge, Cancers, 2023, 10.3390/cancers15225380
Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations, , Hum Mol Genet, 1996, 10.1093/hmg/5.6.835
Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium, , Hum Mol Genet, 2014, 10.1093/hmg/ddu311
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes, , Am J Hum Genet, 2019, 10.1016/j.ajhg.2018.11.002
Formation and degradation of dihydrotestosterone by recombinant members of the rat 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase family, , Mol Cell Endocrinol, 1994, 10.1016/0303-7207(94)90066-3
Perceptions and Usability of PREVENTION: A Breast Cancer Risk Assessment e-Platform, Carmen G. Loiselle, Jacques Simard, Bartha M. Knoppers, Saima Ahmed, Andrew Durand, Marika Monarque, Samar Attieh, Journal of Personalized Medicine, 2023, 10.3390/jpm13050850
[From the gene to the clinic: prostate cancer death can now be an exception?], , Med Sci (Paris), 2003, 10.1051/medsci/20031910910
Association of specific LDL receptor gene mutations with differential plasma lipoprotein response to simvastatin in young French Canadians with heterozygous familial hypercholesterolemia, , Arterioscler Thromb Vasc Biol, 1998, 10.1161/01.atv.18.6.1007
A new alternative splice variant of BRCA1 containing an additional in-frame exon, , Biochim Biophys Acta, 2005, 10.1016/j.bbaexp.2005.08.011
Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study, , J Natl Cancer Inst, 2019, 10.1093/jnci/djy132
Analysis of ZNF350/ZBRK1 promoter variants and breast cancer susceptibility in non-BRCA1/2 French Canadian breast cancer families, , J Hum Genet, 2013, 10.1038/jhg.2012.127
Genome-wide analyses characterize shared heritability among cancers and identify novel cancer susceptibility regions., Matthew H. Law, Kanetsky PA, Mark Iles, Goldstein AM, Demenais F, Bishop DT, International Lung Cancer Consortium (ILCCO), Tardon A, Landi MT, Amos CI, Aldrich MC, Mckay J, Mattias Johansson, Christiani DC, Paul Brennan, Wrensch M, Melin B, Jenkins RB, Richard Houlston, Bondy ML, Barnholtz-Sloan J, Johannes Schumacher, Stuart MacGregor, Jankowski J, Gockel I, Puya Gharahkhani, Fitzgerald R, Endometrial Cancer Association Consortium (ECAC), Tomlinson I, Spurdle AB, O'Mara TA, De Vivo I, Colorectal Transdisciplinary Study (CORECT), Colon Cancer Family Registry Study (CCFR), Genetics And Epidemiology Of Colorectal Cancer Consortium (GECCO), Kenneth Offit, Victor Moreno, Loic Le Marchand, Gunter MJ, Stephen B. Gruber, Gallinger S, Breast Cancer Association Consortium (BCAC), Bammler T, Mancuso N, Hongjie Chen, Constance Turman, Harrison T, Macdonald J, Huo S, Majumdar A, Feng H, Wang L, Sara Lindstrom, Journal of the National Cancer Institute, 2023, 10.1093/jnci/djad043
Inhibitory effect of estrogens on GCDFP-15 mRNA levels and secretion in ZR-75-1 human breast cancer cells, , Mol Endocrinol, 1989, 10.1210/mend-3-4-694
Health professionals' perspectives on breast cancer risk stratification: understanding evaluation of risk versus screening for disease, , Public Health Rev, 2019, 10.1186/s40985-019-0111-5
Evidence of a founder effect for the protein C gene 3363 inserted C mutation in thrombophilic pedigrees of French origin, , Thromb Haemost, 2001
Multiple signaling pathways mediate interleukin-4-induced 3beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase type 1 gene expression in human breast cancer cells, , Mol Endocrinol, 2000, 10.1210/mend.14.2.0416
AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study, , Cancer Epidemiol Biomarkers Prev, 2007, 10.1158/1055-9965.Epi-07-0129
A RAD51 assay feasible in routine tumor samples calls PARP inhibitor response beyond BRCA mutation, , EMBO Mol Med, 2018, 10.15252/emmm.201809172
A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk, , Cancer Res, 2018, 10.1158/0008-5472.Can-18-0951
GATA factors and the nuclear receptors, steroidogenic factor 1/liver receptor homolog 1, are key mutual partners in the regulation of the human 3beta-hydroxysteroid dehydrogenase type 2 promoter, , Mol Endocrinol, 2005, 10.1210/me.2004-0257
Incorporating truncating variants in PALB2, CHEK2, and ATM into the BOADICEA breast cancer risk model, , Genet Med, 2016, 10.1038/gim.2016.31
Detection of frequent BglII polymorphism by polymerase chain reaction and TaqI restriction fragment length polymorphism for 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase at the human HSD beta 3 locus (1p11-p13), , Hum Genet, 1991, 10.1007/bf00201743
Genetic discrimination and life insurance: a systematic review of the evidence, , BMC Med, 2013, 10.1186/1741-7015-11-25
Recent advances in androgen receptor research : relative potencies of pure antiandrogens and implications for prostate cancer therapy, , New diagnostic and treatment modalities in prostate cancer : a comprehensive guide to current strategies in management, 1997
DHEA and peripheral androgen and estrogen formation: intracinology, , Ann N Y Acad Sci, 1995, 10.1111/j.1749-6632.1995.tb17369.x
Risk-Stratified Approach to Breast Cancer Screening in Canada: Women's Knowledge of the Legislative Context and Concerns about Discrimination from Genetic and Other Predictive Health Data, , J Pers Med, 2021, 10.3390/jpm11080726
Les enjeux éthiques du partage des résultats de recherche: l'expérience d'INHERIT BRCAS, , La recherche en génétique et en génomique : droits et responsabilités, 2005
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers., Fostira F, Lidia Feliubadaló, Faust U, Gareth Evans, Christoph Engel, Hans Ehrencrona, Douglas Easton, Eason J, Donaldson A, Domchek SM, Ding YC, Diez O, Dhawan M, Delnatte C, Robin de Putter, Miguel de la Hoya, Davidson R, Sita Dandiker, Daly MB, Couch FJ, Cosgrove C, Cook J, Collonge-Rame MA, EMBRACE Collaborators, GEMO Study Collaborators, Kathleen Claes, Ian Campbell, Wendy Chung, Caligo MA, Buys SS, Joan Brunet, Bradbury AR, Borde J, Boonen SE, Marinus Blok, Berger L, Belhadj S, Barkardottir RB, Balmaña J, Jacopo Azzollini, Arun BK, Irene L. Andrulis, Aittomäki K, Peter Mace, Robinson BA, Daniel Barnes, Wiggins GAR, Joe Dennis, Marquart L, John F Pearson, Hakkaart C, Communications biology, 2022, 10.1038/s42003-022-03978-6
Steroid modulation of LHRH action, , Steroid modulation of neuroendocrine function; Sterols, steroids, and bone metabolism: proceedings of the XI Meeting of the International Study Group for Steroid Hormones, Rome, November 30-December 2, 1983, 1984
Chromosomes 4 and 8 implicated in a genome wide SNP linkage scan of 762 prostate cancer families collected by the ICPCG, , Prostate, 2012, 10.1002/pros.21443
Intracrinology: role of the family of 17 beta-hydroxysteroid dehydrogenases in human physiology and disease, , J Mol Endocrinol, 2000, 10.1677/jme.0.0250001
Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent, , PLoS Med, 2016, 10.1371/journal.pmed.1002105
Changes in health-related behaviours following BRCA 1/2 genetic testing: the case of hormone replacement therapy, , J Obstet Gynaecol Can, 2004, 10.1016/s1701-2163(16)30432-7
Germline mutations in the breast cancer susceptibility gene PTEN are rare in high-risk non-BRCA1/2 French Canadian breast cancer families, , Fam Cancer, 2007, 10.1007/s10689-007-9151-y
Influence of the duration of androgen deprivation on the sensitivity of the rat ventral prostate to dehydroepiandrosterone and androstenedione, , Ann N Y Acad Sci, 1990
Regulating cancer risk prediction: legal considerations and stakeholder perspectives on the Canadian context, Yann Joly, Jacques Simard, Michel Dorval, Hermann Nabi, Michael Wolfson, Bartha M. Knoppers, Michael Lang, Ma’n H. Zawati, Terese Knoppers, Palmira Granados Moreno, Human Genetics, 2023, 10.1007/s00439-023-02576-8
Physicians, genetics and life insurance, , Cmaj, 2004, 10.1503/cmaj.1040127
Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1, , Am J Hum Genet, 2013, 10.1016/j.ajhg.2013.10.026
Large-scale genotyping identifies 41 new loci associated with breast cancer risk, , Nat Genet, 2013, 10.1038/ng.2563
["Intracrinology". Autonomy and freedom of peripheral tissues], , Ann Endocrinol (Paris), 1995
Multiple factors controlling ACTH secretion at the anterior pituitary level, , Ann N Y Acad Sci, 1987, 10.1111/j.1749-6632.1987.tb24953.x
Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus, , Breast Cancer Res, 2016, 10.1186/s13058-016-0718-0
RAD51B in Familial Breast Cancer, , PLoS One, 2016, 10.1371/journal.pone.0153788
A combined genomewide linkage scan of 1,233 families for prostate cancer-susceptibility genes conducted by the international consortium for prostate cancer genetics, , Am J Hum Genet, 2005, 10.1086/432377
Third and fourth generation SERMs, , Selective estrogen receptor modulators: research and clinical applications, 2002
Genetic mapping of the breast-ovarian cancer syndrome to a small interval on chromosome 17q12-21: exclusion of candidate genes EDH17B2 and RARA, , Hum Mol Genet, 1993, 10.1093/hmg/2.8.1193
Cloning, expression and regulation of tissue-specific expression of 3b-hydroxysteroid dehydrogenase/D5-D4 isomerase, , Cellular and molecular biology of the adrenal cortex: proceedings of the 5th International Symposium on Cellular and Molecular Biology of the Adrenal Cortex held in Avignon (France) August 27-29, 1992, 1992
Prediction of breast cancer risk based on profiling with common genetic variants, , J Natl Cancer Inst, 2015, 10.1093/jnci/djv036
Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer, , Nat Genet, 2015, 10.1038/ng.3242
Return of research results: general principles and international perspectives, , J Law Med Ethics, 2011, 10.1111/j.1748-720X.2011.00625.x
Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast/ovarian cancer families, , Hum Genet, 2005, 10.1007/s00439-005-1297-9
Suggestive evidence for a site specific prostate cancer gene on chromosome 1p36. The CRC/BPG UK Familial Prostate Cancer Study Coordinators and Collaborators. The EU Biomed Collaborators, , J Med Genet, 2000, 10.1136/jmg.37.12.947
Usefulness of Canadian Public Health Insurance Administrative Databases to Assess Breast and Ovarian Cancer Screening Imaging Technologies for BRCA1/2 Mutation Carriers, , Can Assoc Radiol J, 2016, 10.1016/j.carj.2015.12.003
Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers, , J Natl Cancer Inst, 2017, 10.1093/jnci/djw302
Characterization of two mRNA species encoding human estradiol 17 beta-dehydrogenase and assignment of the gene to chromosome 17, , J Steroid Biochem, 1989, 10.1016/0022-4731(89)90082-4
Nonsalt-losing male pseudohermaphroditism due to the novel homozygous N100S mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene, , J Clin Endocrinol Metab, 1995, 10.1210/jcem.80.7.7608265
Ethical challenges and innovations in the dissemination of genomic data: the experience of the PERSPECTIVE project, , Adv Genomics Genet, 2015
Inhibitory effect of androgen on estrogen-induced prolactin messenger ribonucleic acid accumulation in the male rat anterior pituitary gland, , Endocrinology, 1989, 10.1210/endo-125-4-1821
Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers, , Hum Mutat, 2012, 10.1002/humu.22025
Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers, , Cancer Epidemiol Biomarkers Prev, 2010, 10.1158/1055-9965.Epi-10-0517
Canadian Healthcare Professionals’ Views and Attitudes toward Risk-Stratified Breast Cancer Screening, Hermann Nabi, Jacques Simard, Anna Maria Chiarelli, Bartha Knoppers, Yann Joly, Kristina Maria Blackmore, Meghan J. Walker, Jennifer Brooks, Laurence Lambert-côté, Annie Turgeon, Laurence Eloy, Jocelyne Chiquette, Nora Pashayan, Michel Dorval, Cynthia Mbuya-Bienge, Jean-Martin Côté, Julie Lapointe, Journal of Personalized Medicine, 2023, 10.3390/jpm13071027
Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction, , Cancer Res, 2010, 10.1158/0008-5472.Can-10-1907
Induction of 3beta-hydroxysteroid dehydrogenase/isomerase type 1 expression by interleukin-4 in human normal prostate epithelial cells, immortalized keratinocytes, colon, and cervix cancer cell lines, , Endocrinology, 1999, 10.1210/endo.140.10.7038
Structure and sexual dimorphic expression of a liver-specific rat 3 beta-hydroxysteroid dehydrogenase/isomerase, , Endocrinology, 1990, 10.1210/endo-127-6-3237
Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers, , Br J Cancer, 2019, 10.1038/s41416-019-0492-8
PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1, , Oncotarget, 2017, 10.18632/oncotarget.21800
Detection of polymorphisms in the estradiol 17 beta-hydroxysteroid dehydrogenase II gene at the EDH17B2 locus on 17q11-q21, , Hum Mol Genet, 1993, 10.1093/hmg/2.4.479
Inherited mutations in BRCA1 and BRCA2 in an unselected multiethnic cohort of Asian patients with breast cancer and healthy controls from Malaysia, , J Med Genet, 2018, 10.1136/jmedgenet-2017-104947
Characterization of cDNAs for human estradiol 17 beta-dehydrogenase and assignment of the gene to chromosome 17: evidence of two mRNA species with distinct 5'-termini in human placenta, , Mol Endocrinol, 1989, 10.1210/mend-3-8-1301
A novel A10E homozygous mutation in the HSD3B2 gene causing severe salt-wasting 3beta-hydroxysteroid dehydrogenase deficiency in 46,XX and 46,XY French-Canadians: evaluation of gonadal function after puberty, , J Clin Endocrinol Metab, 2000, 10.1210/jcem.85.5.6581
Structure of two in tandem human 17 beta-hydroxysteroid dehydrogenase genes, , Mol Endocrinol, 1990, 10.1210/mend-4-2-268
A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer, , Nat Genet, 2018, 10.1038/s41588-018-0132-x
Genetic variants and haplotype analyses of the ZBRK1/ZNF350 gene in high-risk non BRCA1/2 French Canadian breast and ovarian cancer families, , Int J Cancer, 2008, 10.1002/ijc.23058
Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), , Cancer Epidemiol Biomarkers Prev, 2012, 10.1158/1055-9965.Epi-11-0775
Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element, , Am J Hum Genet, 2021, 10.1016/j.ajhg.2021.05.013
Survey of primary care physicians' views about breast and ovarian cancer screening for true BRCA1/2 non-carriers, , J Community Genet, 2020, 10.1007/s12687-019-00438-3
Effects of sex steroids on regulation of the levels of C1 peptide of rat prostatic steroid-binding protein mRNA evaluated by in-situ hybridization, , J Mol Endocrinol, 1988, 10.1677/jme.0.0010213
Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21, , Oncotarget, 2016, 10.18632/oncotarget.12818
The Influence of Number and Timing of Pregnancies on Breast Cancer Risk for Women With BRCA1 or BRCA2 Mutations, , JNCI Cancer Spectr, 2018, 10.1093/jncics/pky078
Synthèse périphérique des androgènes chez l'homme. Génétique moléculaire du système et sa prise en compte dans le traitement du cancer de la prostate, , Med Sci (Paris), 1990
A genome-wide gene-based gene-environment interaction study of breast cancer in more than 90,000 women., Figueroa J, Montserrat Garcia-Closas, Eliassen H, Tamimi R, Peng C, Love MI, Troester MA, Long J, Zheng W, Goldberg MS, Simard J, Winham S, Scott C, Maskarinec G, Haiman CA, Giles GG, Becher H, Jung A, Kosma VM, Mannermaa A, Behrens S, Lo WY, Hoppe R, Arndt V, Brenner H, Kaaks R, Canzian F, Hodge JM, Teras LR, Truong T, Guénel P, Aronson K, Murphy RA, Shibli R, Rennert G, Stone J, Beane Freeman LE, Koutros S, Southey MC, Hopper JL, Pharoah PDP, Kyriaki Michailidou, Wang Q, Lush M, Dunning AM, Dennis J, Bolla MK, Su YR, Middha Kapoor P, Chen H, Wang X, Cancer research communications, 2022, 10.1158/2767-9764.crc-21-0119
Interleukin-4 and interleukin-13 inhibit estrogen-induced breast cancer cell proliferation and stimulate GCDFP-15 expression in human breast cancer cells, , Mol Cell Endocrinol, 1996, 10.1016/0303-7207(96)03843-9
Androgens, DHEA and breast cancer, , Androgens and reproductive aging, 2006
Functional analysis of promoter variants in KU70 and their role in cancer susceptibility, , Genes Chromosomes Cancer, 2012, 10.1002/gcc.21983
Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk, , PLoS Genet, 2013, 10.1371/journal.pgen.1003173
Usefulness of Canadian Public Health Insurance Administrative Databases to Assess Breast and Ovarian Cancer Screening Imaging Technologies for BRCA1/2 Mutation Carriers, , Can Assoc Radiol J, 2016
DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers, , PLoS Genet, 2014, 10.1371/journal.pgen.1004256
Prostate cancer suceptibility genes, , Prostate Cancer: Understanding the Pathophysiology and Re-Designing A Therapeutic Approach, 2004
Prostate cancer susceptibility genes: lessons learned and challenges posed, , Endocr Relat Cancer, 2003, 10.1677/erc.0.0100225
Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers, , Breast Cancer Res, 2014, 10.1186/s13058-014-0492-9
Androgenic 17 beta-hydroxysteroid dehydrogenase activity of expressed rat type I 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase, , Endocrinology, 1992, 10.1210/endo.130.1.1309351
Authors' response: Associations of obesity and circulating insulin and glucose with breast cancer risk, , Int J Epidemiol, 2019, 10.1093/ije/dyz015
Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression, , Am J Hum Genet, 2015, 10.1016/j.ajhg.2015.05.002
Multihormonal regulation of dehydroepiandrosterone sulfotransferase messenger ribonucleic acid levels in adult rat liver, , Endocrinology, 1994, 10.1210/endo.134.4.8137732
Fine-scale mapping of the 4q24 locus identifies two independent loci associated with breast cancer risk, , Cancer Epidemiol Biomarkers Prev, 2015, 10.1158/1055-9965.Epi-15-0363
EM-652 (SCH 57068), a pure SERM in the mammary gland and endometrium, , Ref Gynecol Obstet, 2001
Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation, , Nat Commun, 2014, 10.1038/ncomms5999
Localization of the catalytic subunit C gamma of the cAMP-dependent protein kinase gene (PRKACG) to human chromosome region 9q13, , Cytogenet Cell Genet, 1992, 10.1159/000133286
Personalized medicine and access to health care: potential for inequitable access?, , Eur J Hum Genet, 2013, 10.1038/ejhg.2012.149
Variations in the NBN/NBS1 gene and the risk of breast cancer in non-BRCA1/2 French Canadian families with high risk of breast cancer, , BMC Cancer, 2009, 10.1186/1471-2407-9-181
The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers, , Br J Cancer, 2009, 10.1038/sj.bjc.6605279
Alcohol Consumption, Cigarette Smoking, and Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Results from The BRCA1 and BRCA2 Cohort Consortium, , Cancer Epidemiol Biomarkers Prev, 2020, 10.1158/1055-9965.Epi-19-0546
Regulation of pro-gonadotropin-releasing hormone gene expression by sex steroids in the brain of male and female rats, , Mol Endocrinol, 1989, 10.1210/mend-3-11-1748
Reproductive and hormonal factors, and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: results from the International BRCA1/2 Carrier Cohort Study, , Cancer Epidemiol Biomarkers Prev, 2009, 10.1158/1055-9965.Epi-08-0546
An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression, , Hum Mol Genet, 2016, 10.1093/hmg/ddw223
3b-hydroxysteroid dehydrogenase D5- D4-isomerase deficiency, , Genetics of steroid biosynthesis and function, 2002
Publisher Correction: Shared heritability and functional enrichment across six solid cancers, , Nat Commun, 2019, 10.1038/s41467-019-12095-8
Genetic predisposition to in situ and invasive lobular carcinoma of the breast, , PLoS Genet, 2014, 10.1371/journal.pgen.1004285
Evaluation of associations between genetically predicted circulating protein biomarkers and breast cancer risk, , Int J Cancer, 2020, 10.1002/ijc.32542
Transcriptome-wide association study of breast cancer risk by estrogen-receptor status, , Genet Epidemiol, 2020, 10.1002/gepi.22288
Estimated potency of Casodex: a problematic design, , Urology, 1997
Lessons learned and challenges posed in cancer genetics. Introduction, , J Intern Med, 2013, 10.1111/joim.12129
Contralateral breast cancer risk in irradiated breast cancer patients with a germline-BRCA1/2 pathogenic variant, Christoph Engel, Kerstin Rhiem, Marc Tischkowitz, Miguel de la Hoya, Marjanka K. Schmidt, Carole Brewer, Jacques Simard, Maartje J. Hooning, 2023, 10.1093/jnci/djad116
FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium, , Br J Cancer, 2014, 10.1038/bjc.2013.769
CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers, , Br J Cancer, 2021, 10.1038/s41416-020-01185-w
EM-652 (SCH 57068), a third generation SERM acting as pure antiestrogen in the mammary gland and endometrium, , J Steroid Biochem Mol Biol, 1999, 10.1016/s0960-0760(99)00065-5
rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk, , Sci Rep, 2016, 10.1038/srep36874
BRCA2 germline mutations in male breast cancer cases and breast cancer families, , Nat Genet, 1996, 10.1038/ng0596-123
(S)-(+)-4-[7-(2,2-dimethyl-1-oxopropoxy)-4-methyl-2-[4-[2-(1-piperidinyl)-ethoxy]phenyl]-2H-1-benzopyran-3-yl]-phenyl 2,2-dimethylpropanoate (EM-800): a highly potent, specific, and orally active nonsteroidal antiestrogen, , J Med Chem, 1997, 10.1021/jm970095o
Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk, , Hum Mol Genet, 2015, 10.1093/hmg/ddu431
Mutational analysis of the breast cancer susceptibility gene BRIP1 /BACH1/FANCJ in high-risk non-BRCA1/BRCA2 breast cancer families, , J Hum Genet, 2008, 10.1007/s10038-008-0285-z
Re-evaluating genetic variants identified in candidate gene studies of breast cancer risk using data from nearly 280,000 women of Asian and European ancestry, , EBioMedicine, 2019, 10.1016/j.ebiom.2019.09.006
Structure-function relationships of 3 beta-hydroxysteroid dehydrogenase: contribution made by the molecular genetics of 3 beta-hydroxysteroid dehydrogenase deficiency, , Steroids, 1997, 10.1016/s0039-128x(96)00178-x
Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer, , Nat Commun, 2016, 10.1038/ncomms11375
MicroRNA related polymorphisms and breast cancer risk, , PLoS One, 2014, 10.1371/journal.pone.0109973
No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study, , Breast Cancer Res Treat, 2009, 10.1007/s10549-008-0064-8
Sequence kernel association test for survival outcomes in the presence of a non-susceptible fraction, , Biostatistics, 2020, 10.1093/biostatistics/kxy075
Functional characterization of the novel L108W and P186L mutations detected in the type II 3 beta-hydroxysteroid dehydrogenase gene of a male pseudohermaphrodite with congenital adrenal hyperplasia, , Hum Mol Genet, 1994, 10.1093/hmg/3.9.1639
Use of dietary supplements among women at high risk of hereditary breast and ovarian cancer (HBOC) tested for cancer susceptibility, , Nutr Cancer, 2006, 10.1207/s15327914nc5402_1
Multihormonal control of pre-pro-somatostatin mRNA levels in the periventricular nucleus of the male and female rat hypothalamus, , Neuroendocrinology, 1990, 10.1159/000125639
Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers, , PLoS One, 2015, 10.1371/journal.pone.0120020
Analysis of Xq27-28 linkage in the international consortium for prostate cancer genetics (ICPCG) families, , BMC Med Genet, 2012, 10.1186/1471-2350-13-46
Conversion of precursor adrenal steroids into potent androgens in peripheral tissue, , Early stage prostate cancer: diagnosis and choice of treatment: proceedings of the International Symposium on Diagnosis and Treatment of Early Stage Prostate Cancer, held in Quebec City, Canada, on 3 October 1988, 1989
Using Real-World Data to Determine Health System Costs of Ontario Women Screened for Breast Cancer, Anna M. Chiarelli, Jacques Simard, Nora Pashayan, Marie-Hélène Guertin, Michael Wolfson, Jodi M. Gatley, Christina Diong, Soo Jin Seung, Nicole Mittmann, Current Oncology, 2022, 10.3390/curroncol29110657
Interleukin-6 inhibits the potent stimulatory action of androgens, glucocorticoids and interleukin-1 alpha on apolipoprotein D and GCDFP-15 expression in human breast cancer cells, , Int J Cancer, 1995, 10.1002/ijc.2910620614
Toward a Population-Based Breast Cancer Risk Stratification Approach? The Needs and Concerns of Healthcare Providers, , J Pers Med, 2021, 10.3390/jpm11060540
Characterization of HSD17B1 sequence variants in breast cancer cases from French Canadian families with high risk of breast and ovarian cancer, , J Steroid Biochem Mol Biol, 2008, 10.1016/j.jsbmb.2007.10.004
Support groups for people carrying a BRCA mutation, , Cmaj, 2001
Glucocorticoid regulation of proopiomelanocortin mRNA levels in rat arcuate nucleus, , Mol Cell Neurosci, 1990
Characterization of rat 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase cDNAs and differential tissue-specific expression of the corresponding mRNAs in steroidogenic and peripheral tissues, , J Biol Chem, 1991
EM-652 (SCH57068), a pure SERM having complete antiestrogenic activity in the mammary gland and endometrium, , J Steroid Biochem Mol Biol, 2001, 10.1016/s0960-0760(01)00139-x
DHEA replacement therapy as a source of androgens and estrogens at menopause, , Advances in gynecological endocrinology: the proceedings of the plenary sessions of the 8th World Congress of Gynecological Endocrinology, Florence, Italy, December 2000, 2002
p300/CBP is required for transcriptional induction by interleukin-4 and interacts with Stat6, , Nucleic Acids Res, 1999, 10.1093/nar/27.13.2722
Characterization of the effects of the novel non-steroidal antiestrogen EM-800 on basal and estrogen-induced proliferation of T-47D, ZR-75-1 and MCF-7 human breast cancer cells in vitro, , Int J Cancer, 1997, 10.1002/(sici)1097-0215(19970926)73:1<104::aid-ijc16>3.0.co;2-g
Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers, , Breast Cancer Res, 2012, 10.1186/bcr3121
Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer, , NPJ Breast Cancer, 2020, 10.1038/s41523-020-00185-6
ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes, , Hum Mutat, 2012, 10.1002/humu.21628
Prevalence of BRCA1 and BRCA2 pathogenic variants in a large, unselected breast cancer cohort, , Int J Cancer, 2019, 10.1002/ijc.31841
Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects, , NPJ Breast Cancer, 2021, 10.1038/s41523-021-00255-3
Structure, regulation and role of 3 beta-hydroxysteroid dehydrogenase, 17 beta-hydroxysteroid dehydrogenase and aromatase enzymes in the formation of sex steroids in classical and peripheral intracrine tissues, , Baillieres Clin Endocrinol Metab, 1994, 10.1016/s0950-351x(05)80261-7
A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46,450 cases and 42,461 controls from the breast cancer association consortium, , Hum Mol Genet, 2014, 10.1093/hmg/ddt581
Women's Views on Multifactorial Breast Cancer Risk Assessment and Risk-Stratified Screening: A Population-Based Survey from Four Provinces in Canada, , J Pers Med, 2021, 10.3390/jpm11020095
17alpha-hydroxylase/17,20-Lyase deficiency due to novel compound heterozygote mutations: treatment for tall stature in a female with male pseudohermaphroditism and spontaneous puberty in her affected sister, , J Pediatr Endocrinol Metab, 2005, 10.1515/jpem.2005.18.4.403
No Evidence of BRCA1/2 genomic rearrangements in high-risk French-Canadian breast/ovarian cancer families, , Genet Test, 2006, 10.1089/gte.2006.10.104
Recommendations on breast cancer screening and prevention in the context of implementing risk stratification: impending changes to current policies, , Curr Oncol, 2016, 10.3747/co.23.2961
Mutation R96W in cytochrome P450c17 gene causes combined 17 alpha-hydroxylase/17-20-lyase deficiency in two French Canadian patients, , J Clin Endocrinol Metab, 1996, 10.1210/jcem.81.1.8550762
Analysis of GADD45A sequence variations in French Canadian families with high risk of breast cancer, , J Hum Genet, 2008, 10.1007/s10038-008-0276-0
17b-hydroxysteroid dehydrogenase and 5a-reductase eficiencies, , Genetics of steroid biosynthesis and function, 2002
Molecular biology of the intracrine steroidogenic enzymes in the human prostate, , Sex hormones and antihormones in endocrine dependent pathology: basic and clinical aspects: proceedings of an international symposium, Milano, 10-14 April 1994, 1994
Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers, , Nat Commun, 2021, 10.1038/s41467-021-23162-4
Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA), , Br J Cancer, 2009, 10.1038/sj.bjc.6605416
Health behaviors and psychological distress in women initiating BRCA1/2 genetic testing: comparison with control population, , J Genet Couns, 2008, 10.1007/s10897-008-9150-7
Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2, , Hum Mol Genet, 2015, 10.1093/hmg/ddv035
Functional characterization of 84 PALB2 variants of uncertain significance, , Genet Med, 2020, 10.1038/s41436-019-0682-z
Gene-environment interactions involving functional variants: Results from the Breast Cancer Association Consortium, , Int J Cancer, 2017, 10.1002/ijc.30859
Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers, , Hum Mol Genet, 2011, 10.1093/hmg/ddr226
Stimulation of growth hormone release and synthesis by estrogens in rat anterior pituitary cells in culture, , Endocrinology, 1986, 10.1210/endo-119-5-2004
Pregnancies, breast-feeding, and breast cancer risk in the International BRCA1/2 Carrier Cohort Study (IBCCS), , J Natl Cancer Inst, 2006, 10.1093/jnci/djj132
Characterization of macaque 3 beta-hydroxy-5-ene steroid dehydrogenase/delta 5-delta 4 isomerase: structure and expression in steroidogenic and peripheral tissues in primate, , Mol Cell Endocrinol, 1991, 10.1016/0303-7207(91)90224-g
Combination therapy with the antiandrogen Flutamide and the LHRH agonist [D-Trp6, des-Gly-NH210]LHRH ethylamide in prostate cancer: rationale and 5-year clinical experience, , Molecular biology of brain and endocrine peptidergic systems, 1988
Relatives potencies of flutamide and casodex : preclinical studies, , Endocr Relat Cancer, 1996
Ovarian 3 beta-hydroxysteroid dehydrogenase and sulfated glycoprotein-2 gene expression are differentially regulated by the induction of ovulation, pseudopregnancy, and luteolysis in the immature rat, , Endocrinology, 1992, 10.1210/endo.130.4.1547735
A common ancestor for mammalian 3 beta-hydroxysteroid dehydrogenase and plant dihydroflavonol reductase, , Biochem J, 1990, 10.1042/bj2690558
Pooled genome linkage scan of aggressive prostate cancer: results from the International Consortium for Prostate Cancer Genetics, , Hum Genet, 2006, 10.1007/s00439-006-0219-9
Widespread tissue distribution of steroid sulfatase, 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase (3 beta-HSD), 17 beta-HSD 5 alpha-reductase and aromatase activities in the rhesus monkey, , Mol Cell Endocrinol, 1994, 10.1016/0303-7207(94)90056-6
Effect of luteinizing hormone releasing hormone (LHRH) and [D-Trp6, des-Gly-NH2(10)]LHRH ethylamide on alpha-subunit and LH beta messenger ribonucleic acid levels in rat anterior pituitary cells in culture, , Mol Endocrinol, 1988, 10.1210/mend-2-6-521
Genetic linkage mapping of HSD3B1 and HSD3B2 encoding human types I and II 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase close to D1S514 and the centromeric D1Z5 locus, , Cytogenet Cell Genet, 1995, 10.1159/000133938
Regulation of sex steroid formation by interleukin-4 and interleukin-6 in breast cancer cells, , J Steroid Biochem Mol Biol, 1998, 10.1016/s0960-0760(98)00031-4
The CYP17A1 -34T > C polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers, , Breast Cancer Res Treat, 2011, 10.1007/s10549-010-1123-5
Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer, , J Med Genet, 2007, 10.1136/jmg.2006.044388
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants, , Genet Med, 2020, 10.1038/s41436-020-0862-x
Cloning of the human androgen receptor cDNA, , Hormones and cancer 3: proceedings of the Third International Congress on Hormones and Cancer, 1988

...

Contribution à l'enseignement aux cycles supérieurs

Étudiant(e)s dirigé(e)s*

Depuis 2009

Anne-Laure Renault - Maîtrise avec mémoire - 2014/01
Martin Leclerc - Doctorat - 2016/01
Mandy Ducy - Maîtrise avec mémoire - 2018/09
Audrey Lemaçon - Doctorat - 2019/01
Jolyane Blouin-Bougie - Doctorat - 2023/01

Encadrement d'étudiant(e)s pour les programmes suivants :

Médecine moléculaire

Disponibilité d'encadrement d'étudiant(e)s

Ce (cette) professeur(e) est présentement à la recherche d'étudiant(e)s.

Envoyer un courriel

*Les supervisions d’étudiant(e)s de 1er cycle en stage de recherche et de résident(e)s aux études médicales postdoctorales seront répertoriées ultérieurement.

Mettre à jour mon profil de professeur(e)