Jacques Simard

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

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

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

Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization, , J Natl Cancer Inst, 2015, 10.1093/jnci/djv219

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

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

Ethical challenges and innovations in the dissemination of genomic data: the experience of the PERSPECTIVE project, , Adv Genomics Genet, 2015

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

Variations of pre-prosomatostatin mRNA levels in the hypothalamic periventricular nucleus during the rat estrous cycle, , Mol Cell Neurosci, 1991

Open science precision medicine in Canada: Points to consider, , Facets (Ott), 2019

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

RAD51B in Familial Breast Cancer, , PLoS One, 2016, 10.1371/journal.pone.0153788

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

Family communication following BRCA1/2 genetic testing: a close look at the process, , J Genet Couns, 2013, 10.1007/s10897-012-9559-x

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

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

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

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

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

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes, , Nat Genet, 2020, 10.1038/s41588-019-0537-1

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

BRCA2 germline mutations in male breast cancer cases and breast cancer families, , Nat Genet, 1996, 10.1038/ng0596-123

Linkage analysis of 26 Canadian breast and breast-ovarian cancer families, , Hum Genet, 1995, 10.1007/bf00223867

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes, , Am J Hum Genet, 2019, 10.1016/j.ajhg.2018.11.002

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

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

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

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

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

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 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

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

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

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

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

Identification of three mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians, , Hum Mutat, 1998, 10.1002/humu.1380110173

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

Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium, , Hum Mol Genet, 2014, 10.1093/hmg/ddu311

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

Envisioning Implementation of a Personalized Approach in Breast Cancer Screening Programs: Stakeholder Perspectives, , Healthc Policy, 2019, 10.12927/hcpol.2019.26072

Glucocorticoid regulation of proopiomelanocortin mRNA levels in rat arcuate nucleus, , Mol Cell Neurosci, 1990

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

ABRAXAS (FAM175A) and Breast Cancer Susceptibility: No Evidence of Association in the Breast Cancer Family Registry, , PLoS One, 2016, 10.1371/journal.pone.0156820

Two truncating variants in FANCC and breast cancer risk, , Sci Rep, 2019, 10.1038/s41598-019-48804-y

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

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

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

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

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

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

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

Life insurance: genomic stratification and risk classification, , Eur J Hum Genet, 2014, 10.1038/ejhg.2013.228

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

Combination therapy in stage C and D prostatic cancer: rationale and five year clinical experience, , Cancer Metastasis Rev, 1987, 10.1007/bf00047470

Support groups for people carrying a BRCA mutation, , Cmaj, 2001

Genomic organization and expression of the mouse Brca2 gene, , Mamm Genome, 2002, 10.1007/s00335-002-2300-6

A Mendelian randomization analysis of circulating lipid traits and breast cancer risk, , Int J Epidemiol, 2020, 10.1093/ije/dyz242

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

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

Structure of two in tandem human 17 beta-hydroxysteroid dehydrogenase genes, , Mol Endocrinol, 1990, 10.1210/mend-4-2-268

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

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer, , Nat Genet, 2017, 10.1038/ng.3785

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

Enhanced urinary prostaglandin E2 in postobstructive diuresis in humans, , Prostaglandins Med, 1980, 10.1016/0161-4630(80)90087-7

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

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

High risk genes predisposing to prostate cancer development-do they exist?, , Prostate Cancer Prostatic Dis, 2000, 10.1038/sj.pcan.4500478

Multiple factors controlling ACTH secretion at the anterior pituitary level, , Ann N Y Acad Sci, 1987, 10.1111/j.1749-6632.1987.tb24953.x

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

[Structure and expression of the genes encoding the enzymes for ovarian and peripheral steroidogenesis], , J Gynecol Obstet Biol Reprod (Paris), 1992

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

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

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

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer, , Gynecol Oncol, 2016, 10.1016/j.ygyno.2015.04.034

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

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

The challenge of connecting genomic knowledge to disease prevention: a Canadian integrative experience, , Community genetics: Past and future, 2002

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

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

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

Polygenic risk scores for prediction of breast cancer risk in Asian populations., Yamaji T, Kweon SS, Iwasaki M, Allison Kurian, John EM, Chan TL, 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

Isolation and sequence of the human glucocorticoid receptor gene promoter, , Steroid receptors in health and disease, 1988

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 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

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

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

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

The key role of 17 beta-hydroxysteroid dehydrogenases in sex steroid biology, , Steroids, 1997, 10.1016/s0039-128x(96)00174-2

BRCA1 wild-type allele modifies risk of ovarian cancer in carriers of BRCA1 germ-line mutations, , Cancer Epidemiol Biomarkers Prev, 2003

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

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

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

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

A new insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency, , Endocr Res, 2000, 10.3109/07435800009048597

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

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

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

Mechanisms of action of estrogens and antiestrogens, , The menopause at the millennium: proceedings of the 9th World Congress on the Menopause, 2000

Androgen receptor antagonists (Chapter 28), , Reproductive endocrinology, surgery, and technology, 1996

On the readiness of physicians for pharmacogenomics testing: an empirical assessment, , Pharmacogenomics J, 2018, 10.1038/tpj.2017.22

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

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

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

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

European polygenic risk score for prediction of breast cancer shows similar performance in Asian women, , Nat Commun, 2020, 10.1038/s41467-020-17680-w

The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds, , Nat Genet, 1996, 10.1038/ng0396-333

Localization of 3 beta-hydroxysteroid dehydrogenase in rat brain as studied by in situ hybridization, , Mol Cell Neurosci, 1994, 10.1006/mcne.1994.1014

BRCA1 mutations in Ashkenazi Jewish women, , Am J Hum Genet, 1995

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, Wendy Chung, Ian Campbell, 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

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

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

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

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

Functional characterization of 84 PALB2 variants of uncertain significance, , Genet Med, 2020, 10.1038/s41436-019-0682-z

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

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

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk, , PLoS Genet, 2013, 10.1371/journal.pgen.1003173

Proceedings of the Xth International Congress on Hormonal Steroids. Quebec City, Canada 17-21 June 1998, , 1999

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

Localization of peptide gene expression by in situ hybridization at the electron microscopic level, , Gene probes, 1989

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

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

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

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

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

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

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, Katja K. H. Aben, Xin Yang, Michelle R. Jones, Daniel Barnes, Jonathan Tyrer, Eileen O. Dareng, European Journal of Human Genetics, 2022, 10.1038/s41431-021-00987-7

Shared heritability and functional enrichment across six solid cancers, , Nat Commun, 2019, 10.1038/s41467-018-08054-4

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

Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade, , Hum Mol Genet, 2014, 10.1093/hmg/ddu300

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

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

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

Perspective: prostate cancer susceptibility genes, , Endocrinology, 2002, 10.1210/endo.143.6.8890

SNP Set Association Testing for Survival Outcomes in the Presence of Intrafamilial Correlation, , Genet Epidemiol, 2015, 10.1002/gepi.21914

Prediction of breast cancer risk based on profiling with common genetic variants, , J Natl Cancer Inst, 2015, 10.1093/jnci/djv036

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

Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation, , Nat Commun, 2014, 10.1038/ncomms5999

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

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

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, Buys SS, Brüning T, Hermann Brenner, Bonanni B, Stig Bojesen, Bogdanova NV, Blomqvist C, Bermisheva M, Behrens S, Beckmann MW, Becher H, Beane Freeman LE, Auvinen P, Augustinsson A, Aronson KJ, Arndt V, Anton-Culver H, Andrulis IL, Ambrosone CB, Ahearn TU, Investigators A, Lush M, Dennis J, Wang Q, Bolla MK, Giles GG, Michailidou K, Terry Boyle, English DR, Richard Martin, Lewis SJ, Suzanne C. Dixon-Suen, British journal of sports medicine, 2022, 10.1136/bjsports-2021-105132

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

Response of symbiotic endomycorrhizal fungi to estrogens and antiestrogens, , Mol Plant Microbe Interact, 1997

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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

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

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers, , J Natl Cancer Inst, 2011, 10.1093/jnci/djq494

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Do women change their breast cancer mammogram screening behaviour after BRCA1/2 testing?, , Fam Cancer, 2017, 10.1007/s10689-016-9920-6

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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

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

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

Transcriptional signature of lymphoblastoid cell lines of BRCA1, BRCA2 and non-BRCA1/2 high risk breast cancer families, , Oncotarget, 2017, 10.18632/oncotarget.20219

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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

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

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

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

Legal liability and the uncertain nature of risk prediction: the case of breast cancer risk prediction models, , Public Health Genomics, 2012, 10.1159/000342138

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

Stimulation of apolipoprotein D secretion by steroids coincides with inhibition of cell proliferation in human LNCaP prostate cancer cells, , Cancer Res, 1991

Dopaminergic regulation of pre-proNPY mRNA levels in the rat arcuate nucleus, , Neurosci Lett, 1991, 10.1016/0304-3940(91)90903-7

Androgens and breast cancer, , Cancer Detect Prev, 1992

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

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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

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

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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

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

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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

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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

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

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

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Dinucleotide repeat polymorphisms in the HSD3B2 gene, , Hum Mol Genet, 1994, 10.1093/hmg/3.2.384

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

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Role of DHEA transformation into androgens and estrogens in peripheral intracrine tissues, , DHEA: a comprehensive review, 1999

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

Toward a Population-Based Breast Cancer Risk Stratification Approach? The Needs and Concerns of Healthcare Providers, , J Pers Med, 2021, 10.3390/jpm11060540

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

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

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, Mariapun S, Low SK, 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, Park SK, Bolla MK, 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

Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers, , J Clin Oncol, 2013, 10.1200/jco.2012.47.8313

Localization of the human gene for the type I cyclic GMP-dependent protein kinase to chromosome 10, , Cytogenet Cell Genet, 1992, 10.1159/000133267

Novel Associations between Common Breast Cancer Susceptibility Variants and Risk-Predicting Mammographic Density Measures, , Cancer Res, 2015, 10.1158/0008-5472.Can-14-2012

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

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

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

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

Estimated potency of Casodex: a problematic design, , Urology, 1997

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

[From the gene to the clinic: prostate cancer death can now be an exception?], , Med Sci (Paris), 2003, 10.1051/medsci/20031910910

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

Localization of BRCA1 gene expression in adult cynomolgus monkey tissues, , J Histochem Cytochem, 1997, 10.1177/002215549704500901

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

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

Synthetic progestins stimulate prostatic binding protein messenger RNAs in the rat ventral prostate, , Mol Cell Endocrinol, 1990, 10.1016/0303-7207(90)90190-j

DHEA, the precursor of androgens and estrogens in peripheral tissues in the human: intracrinology, , Dehydroepiandrosterone (DHEA): biochemical, physiological and clinical aspects, 2000

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

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

Correction: BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors, , Genet Med, 2019, 10.1038/s41436-019-0459-4

Inherited Chromosomally Integrated Human Herpesvirus 6 and Breast Cancer, , Cancer Epidemiol Biomarkers Prev, 2017, 10.1158/1055-9965.Epi-16-0735

Crucial role of cytokines in sex steroid formation in normal and tumoral tissues, , Mol Cell Endocrinol, 2001, 10.1016/s0303-7207(00)00387-7

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

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

Gene-environment interactions involving functional variants: Results from the Breast Cancer Association Consortium, , Int J Cancer, 2017, 10.1002/ijc.30859

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

Functional analysis of promoter variants in KU70 and their role in cancer susceptibility, , Genes Chromosomes Cancer, 2012, 10.1002/gcc.21983

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

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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

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Sources d'androgènes chez l'homme et traitement hormonal du cancer de la prostate (Chapter 16), , Endocrinologie Masculine, 1996

FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium, , Br J Cancer, 2014, 10.1038/bjc.2013.769

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Personalizing Breast Cancer Screening Based on Polygenic Risk and Family History, , J Natl Cancer Inst, 2021, 10.1093/jnci/djaa127

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

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

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

Découvrez nos professeurs et professeures!

Jacques Simard

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

Génétique humaine

Santé des populations

Services de santé

Génomique et protéomique

Projets de recherche

Publications

Contribution à l'enseignement aux cycles supérieurs

Étudiant(e)s dirigé(e)s*

Encadrement d'étudiant(e)s

Disponibilité d'encadrement d'étudiant(e)s

Vice-décanat à la recherche et à l'innovation