{"id":1537,"date":"2026-07-27T14:37:38","date_gmt":"2026-07-27T18:37:38","guid":{"rendered":"https:\/\/cartagene.qc.ca\/projet\/evaluation-of-genetic-variants-identified-through-hereditary-cancer-gene-discovery-projects-in-a-french-canadian-control-cohort\/"},"modified":"2026-09-04T12:46:06","modified_gmt":"2026-09-04T16:46:06","slug":"evaluation-of-genetic-variants-identified-through-hereditary-cancer-gene-discovery-projects-in-a-french-canadian-control-cohort","status":"publish","type":"projet","link":"https:\/\/cartagene.qc.ca\/en\/projet\/evaluation-of-genetic-variants-identified-through-hereditary-cancer-gene-discovery-projects-in-a-french-canadian-control-cohort\/","title":{"rendered":"Evaluation of genetic variants identified through hereditary cancer gene discovery projects in a French Canadian control cohort"},"content":{"rendered":"<div class=\"htb htb-hero-simple htb-hero-simple--js   default-margin-top  default-margin-bottom  bg-color color-none  htb-uid-1 \" >\n\t<div class=\"container-fluid\">\n\t\t<div class=\"row\">\n\t\t\t<div class=\"col-12 \">\n\t\t\t\t<div class=\"content-box \">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"henri-breadcrumb-box\">\n\t\t\t<nav aria-label=\"breadcrumb\">\n\t\t\t\t<ol class=\"breadcrumb\" itemscope itemtype=\"http:\/\/schema.org\/BreadcrumbList\">\n\t\t\t\t\t\t\t\t\t\t<li class=\"breadcrumb-item \" itemprop=\"itemListElement\" itemtype=\"http:\/\/schema.org\/ListItem\">\n\t\t\t\t\t\t<a href=\"https:\/\/cartagene.qc.ca\/en\/\">Home<\/a><\/li>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<li class=\"breadcrumb-item\" itemprop=\"itemListElement\" itemtype=\"http:\/\/schema.org\/ListItem\">\n\t\t\t\t\t\t\t\t<a href=\"\/en\/projects\">Projects<\/a><\/li>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<li class=\"breadcrumb-item active\" aria-current=\"page\" itemprop=\"itemListElement\" itemtype=\"http:\/\/schema.org\/ListItem\">Evaluation of genetic variants identified through hereditary cancer gene discovery projects in a French Canadian control cohort<\/li>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/ol>\n\t\t\t<\/nav>\n\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<h1 >Evaluation of genetic variants identified through hereditary cancer gene discovery projects in a French Canadian control cohort<\/h1>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t<\/div>\n<\/div>\n\n\n<div class=\"htb htb-fiche_technique   default-margin-top  default-margin-bottom  bg-color color-none  htb-uid-2 \" >\n\n\t\n\t\t\t<div class=\"container-xxl\">\n\t\t\t<div class=\"row\">\n\t\t\t\t<div class=\"col-12\">\n\n\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-grille\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-grille__rangee\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-carte bg-color color-bleu-blanc\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__label\">Status<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__valeur\">Ongoing<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-carte bg-color color-bleu-blanc\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__label\">Start date<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__valeur\">2017<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-carte bg-color color-bleu-blanc\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__label\">Location<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__valeur\">Quebec<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-grille__rangee\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-carte bg-color color-bleu-blanc\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__label\">Researcher<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__valeur\">Foulkes, William<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-carte bg-color color-bleu-blanc\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__label\">Associated institution<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__valeur\">The Research Institute of the McGill University Health Centre and McGill University<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__row row\">\n\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__label-col col-12 col-lg-4\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"surtitre\">Summary<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__body-col col-12 col-lg-8\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__texte\"><p>Some families are more affected by cancer because they carry genetic changes that can be passed from one generation to the next. However, it is not always clear whether a genetic change truly increases cancer risk or is simply a common variation found in the population. This project uses genetic data from CARTaGENE participants to better understand which genetic variations are associated with a higher risk of inherited cancers in the French-Canadian population. The research has helped identify genetic changes linked to an increased risk of certain cancers while showing that other previously suspected variants do not appear to increase cancer risk. It has also contributed to the discovery and evaluation of new genes that may play a role in hereditary breast cancer. These findings help improve the interpretation of genetic test results and support more accurate cancer risk assessment for individuals and families.<\/p>\n<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__row row\">\n\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__label-col col-12 col-lg-4\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"surtitre\">Themes<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__body-col col-12 col-lg-8\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__texte\"><ul>\n<li>Cancer<\/li>\n<li>Genetics and genomics<\/li>\n<\/ul>\n<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__row row\">\n\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__label-col col-12 col-lg-4\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"surtitre\">Data types<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__body-col col-12 col-lg-8\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__texte\"><ul>\n<li>Biological samples<\/li>\n<li>Questionnaire data<\/li>\n<\/ul>\n<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\n\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t\n<\/div>\n\n\n<div class=\"htb htb-liste-posts-simple   default-margin-top  default-margin-bottom  bg-color color-none  htb-uid-3 \" >\n\t<div class=\"container-xxl\">\n\t\t\t\t\t<div class=\"htb-liste-posts-simple-header\">\n\t\t\t\t\t\t\t\t\t<div class=\"header-intro\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"title-box\">\n\t\t\t\t\t\t\t\t\t\t<h2 >Related resources<\/h2>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\n\t\t\n\t\t\t\t\t<div class=\"row posts-container\">\n\t\t\t\t<article class=\"htb-post-list-item post-type-post\">\n\t<div class=\"contenu-box\">\n\t\t\t\t\t\t\t<div class=\"post-top-box\">\n\t\t\t\t<div class=\"eyebrow-box\">\n\t\t\t\t\t<span class=\"surtitre\">Publications<\/span>\n\t\t\t\t\t<span class=\"year-txt\">\n\t\t\t\t\t\t2026\/03\/31\t\t\t\t\t<\/span>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"title-box\">\n\t\t\t\t\t<h3>ATM c.7374_7375insAlu is a French-Canadian founder pathogenic variant associated with predisposition to pancreatic and breast cancer<\/h3>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<\/div>\n\t\t\t<div class=\"post-footer-box\">\n\t\t\t\t<span class=\"see-more-txt\">View publication<\/span>\n\t\t\t\t<span class=\"bt-arrow bt-arrow--externe\" aria-hidden=\"true\"><\/span>\n\t\t\t<\/div>\n\t\t\t\t<a class=\"stretched-link\" href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/41916721\" target=\"_blank\" rel=\"noopener\" aria-label=\"ATM c.7374_7375insAlu is a French-Canadian founder pathogenic variant associated with predisposition to pancreatic and breast cancer\">ATM c.7374_7375insAlu is a French-Canadian founder pathogenic variant associated with predisposition to pancreatic and breast cancer<\/a>\n\t<\/div>\n<\/article>\n<article class=\"htb-post-list-item post-type-post\">\n\t<div class=\"contenu-box\">\n\t\t\t\t\t\t\t<div class=\"post-top-box\">\n\t\t\t\t<div class=\"eyebrow-box\">\n\t\t\t\t\t<span class=\"surtitre\">Publications<\/span>\n\t\t\t\t\t<span class=\"year-txt\">\n\t\t\t\t\t\t2025\/06\/23\t\t\t\t\t<\/span>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"title-box\">\n\t\t\t\t\t<h3>PMS2 c.2117del (p.Lys706Serfs*19) is the Most Frequent Cancer-Associated Founder Pathogenic Variant in the French-Canadian Population of Quebec, Canada<\/h3>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<\/div>\n\t\t\t<div class=\"post-footer-box\">\n\t\t\t\t<span class=\"see-more-txt\">View publication<\/span>\n\t\t\t\t<span class=\"bt-arrow bt-arrow--externe\" aria-hidden=\"true\"><\/span>\n\t\t\t<\/div>\n\t\t\t\t<a class=\"stretched-link\" href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/40546006\" target=\"_blank\" rel=\"noopener\" aria-label=\"PMS2 c.2117del (p.Lys706Serfs*19) is the Most Frequent Cancer-Associated Founder Pathogenic Variant in the French-Canadian Population of Quebec, Canada\">PMS2 c.2117del (p.Lys706Serfs*19) is the Most Frequent Cancer-Associated Founder Pathogenic Variant in the French-Canadian Population of Quebec, Canada<\/a>\n\t<\/div>\n<\/article>\n<article class=\"htb-post-list-item post-type-post\">\n\t<div class=\"contenu-box\">\n\t\t\t\t\t\t\t<div class=\"post-top-box\">\n\t\t\t\t<div class=\"eyebrow-box\">\n\t\t\t\t\t<span class=\"surtitre\">Publications<\/span>\n\t\t\t\t\t<span class=\"year-txt\">\n\t\t\t\t\t\t2021\/01\/28\t\t\t\t\t<\/span>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"title-box\">\n\t\t\t\t\t<h3>Investigating the causal role of MRE11A p.E506* in breast and ovarian cancer<\/h3>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<\/div>\n\t\t\t<div class=\"post-footer-box\">\n\t\t\t\t<span class=\"see-more-txt\">View publication<\/span>\n\t\t\t\t<span class=\"bt-arrow bt-arrow--externe\" aria-hidden=\"true\"><\/span>\n\t\t\t<\/div>\n\t\t\t\t<a class=\"stretched-link\" href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/33510186\" target=\"_blank\" rel=\"noopener\" aria-label=\"Investigating the causal role of MRE11A p.E506* in breast and ovarian cancer\">Investigating the causal role of MRE11A p.E506* in breast and ovarian cancer<\/a>\n\t<\/div>\n<\/article>\n<article class=\"htb-post-list-item post-type-post\">\n\t<div class=\"contenu-box\">\n\t\t\t\t\t\t\t<div class=\"post-top-box\">\n\t\t\t\t<div class=\"eyebrow-box\">\n\t\t\t\t\t<span class=\"surtitre\">Publications<\/span>\n\t\t\t\t\t<span class=\"year-txt\">\n\t\t\t\t\t\t2020\/04\/16\t\t\t\t\t<\/span>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"title-box\">\n\t\t\t\t\t<h3>Founder BRCA1\/BRCA2\/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls<\/h3>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<\/div>\n\t\t\t<div class=\"post-footer-box\">\n\t\t\t\t<span class=\"see-more-txt\">View publication<\/span>\n\t\t\t\t<span class=\"bt-arrow bt-arrow--externe\" aria-hidden=\"true\"><\/span>\n\t\t\t<\/div>\n\t\t\t\t<a class=\"stretched-link\" href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/32300229\" target=\"_blank\" rel=\"noopener\" aria-label=\"Founder BRCA1\/BRCA2\/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls\">Founder BRCA1\/BRCA2\/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls<\/a>\n\t<\/div>\n<\/article>\n<article class=\"htb-post-list-item post-type-post\">\n\t<div class=\"contenu-box\">\n\t\t\t\t\t\t\t<div class=\"post-top-box\">\n\t\t\t\t<div class=\"eyebrow-box\">\n\t\t\t\t\t<span class=\"surtitre\">Theses and dissertations<\/span>\n\t\t\t\t\t<span class=\"year-txt\">\n\t\t\t\t\t\t2020\t\t\t\t\t<\/span>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"title-box\">\n\t\t\t\t\t<h3>From Clinically Tested to Newly Discovered: Validation of Breast and Ovarian Cancer Predisposing Variants<\/h3>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<\/div>\n\t\t\t<div class=\"post-footer-box\">\n\t\t\t\t<span class=\"see-more-txt\">View publication<\/span>\n\t\t\t\t<span class=\"bt-arrow bt-arrow--externe\" aria-hidden=\"true\"><\/span>\n\t\t\t<\/div>\n\t\t\t\t<a class=\"stretched-link\" href=\"https:\/\/escholarship.mcgill.ca\/concern\/theses\/12579x78p?locale=en\" target=\"_blank\" rel=\"noopener\" aria-label=\"From Clinically Tested to Newly Discovered: Validation of Breast and Ovarian Cancer Predisposing Variants\">From Clinically Tested to Newly Discovered: Validation of Breast and Ovarian Cancer Predisposing Variants<\/a>\n\t<\/div>\n<\/article>\n<article class=\"htb-post-list-item post-type-post\">\n\t<div class=\"contenu-box\">\n\t\t\t\t\t\t\t<div class=\"post-top-box\">\n\t\t\t\t<div class=\"eyebrow-box\">\n\t\t\t\t\t<span class=\"surtitre\">Publications<\/span>\n\t\t\t\t\t<span class=\"year-txt\">\n\t\t\t\t\t\t2019\/10\/18\t\t\t\t\t<\/span>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"title-box\">\n\t\t\t\t\t<h3>Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.<\/h3>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<\/div>\n\t\t\t<div class=\"post-footer-box\">\n\t\t\t\t<span class=\"see-more-txt\">View publication<\/span>\n\t\t\t\t<span class=\"bt-arrow bt-arrow--externe\" aria-hidden=\"true\"><\/span>\n\t\t\t<\/div>\n\t\t\t\t<a class=\"stretched-link\" href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/31681433\" target=\"_blank\" rel=\"noopener\" aria-label=\"Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.\">Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.<\/a>\n\t<\/div>\n<\/article>\n\t\t\t<\/div>\n\t\t\t<\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"featured_media":0,"template":"","projet-categorie":[],"projet-status":[49],"projet-thematique":[54,51],"projet-type-donnees":[63,58],"projet-localisation":[64],"class_list":["post-1537","projet","type-projet","status-publish","hentry","projet-status-ongoing","projet-thematique-cancer","projet-thematique-genetics-and-genomics","projet-type-donnees-biological-samples","projet-type-donnees-questionnaire-data","projet-localisation-quebec-en"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Evaluation of genetic variants identified through hereditary cancer gene discovery projects in a 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