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Through rapid expansion and isolation since immigration in the early 17<jats:sup>th<\/jats:sup> century, French Canadians are a relatively genetically homogenous founder population and therefore represent a unique demographic for genetic contributions to disease. To date, twenty variants in <jats:italic>BRCA1<\/jats:italic>, <jats:italic>BRCA2<\/jats:italic>, and <jats:italic>PALB2<\/jats:italic> that predispose families to breast and ovarian cancer have been identified as recurring in the French-Canadian founder population. Our objective was to evaluate the clinical efficacy and validity of targeted genetic testing for these variants in Montreal French Canadians. A total of 555 breast cancer cases unselected for family history or age of diagnosis were genotyped, along with 1940 controls without a personal or family history of cancer. A Sequenom genotyping assay identified a pathogenic variant in 0.2% (5 of 1940) of cancer-free controls, and 3.8% (21\/555) of breast cancer cases. Almost 10% (12\/113) of early onset cases were heterozygous for founder <jats:italic>BRCA1<\/jats:italic> or <jats:italic>BRCA2<\/jats:italic> pathogenic variant. Of twenty variants tested, only seven were identified in this study. The option of providing this test as population-based screening is discussed.<\/jats:p>","DOI":"10.1038\/s41598-020-63100-w","type":"journal-article","created":{"date-parts":[[2020,4,16]],"date-time":"2020-04-16T10:03:11Z","timestamp":1587031391000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":30,"title":["Founder BRCA1\/BRCA2\/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls"],"prefix":"10.1038","volume":"10","author":[{"given":"Supriya","family":"Behl","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy","family":"Hamel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manon","family":"de Ladurantaye","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phanie","family":"Lepage","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R\u00e9jean","family":"Lapointe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Marie","family":"Mes-Masson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William D.","family":"Foulkes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,4,16]]},"reference":[{"key":"63100_CR1","unstructured":"Canadian Cancer Society\u2019s Advisory Committee on Cancer Statistics. 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