Founder BRCA1/BRCA2/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls

Abstract Inherited germline pathogenic variants are responsible for ~5% of breast cancer globally. Through rapid expansion and isolation since immigration in the early 17th century, French Canadians are a relatively genetically homogenous founder population and therefore represent a unique demograph...

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Autores principales:	Supriya Behl, Nancy Hamel, Manon de Ladurantaye, Stéphanie Lepage, Réjean Lapointe, Anne-Marie Mes-Masson, William D. Foulkes
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2020
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/b67ddaa5e9f64dcabd8141ee8ac1639b
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spelling	oai:doaj.org-article:b67ddaa5e9f64dcabd8141ee8ac1639b2021-12-02T18:03:47ZFounder BRCA1/BRCA2/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls10.1038/s41598-020-63100-w2045-2322https://doaj.org/article/b67ddaa5e9f64dcabd8141ee8ac1639b2020-04-01T00:00:00Zhttps://doi.org/10.1038/s41598-020-63100-whttps://doaj.org/toc/2045-2322Abstract Inherited germline pathogenic variants are responsible for ~5% of breast cancer globally. Through rapid expansion and isolation since immigration in the early 17th 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 BRCA1, BRCA2, and PALB2 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 BRCA1 or BRCA2 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.Supriya BehlNancy HamelManon de LadurantayeStéphanie LepageRéjean LapointeAnne-Marie Mes-MassonWilliam D. FoulkesNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 10, Iss 1, Pp 1-7 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Supriya Behl Nancy Hamel Manon de Ladurantaye Stéphanie Lepage Réjean Lapointe Anne-Marie Mes-Masson William D. Foulkes Founder BRCA1/BRCA2/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls
description	Abstract Inherited germline pathogenic variants are responsible for ~5% of breast cancer globally. Through rapid expansion and isolation since immigration in the early 17th 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 BRCA1, BRCA2, and PALB2 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 BRCA1 or BRCA2 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.
format	article
author	Supriya Behl Nancy Hamel Manon de Ladurantaye Stéphanie Lepage Réjean Lapointe Anne-Marie Mes-Masson William D. Foulkes
author_facet	Supriya Behl Nancy Hamel Manon de Ladurantaye Stéphanie Lepage Réjean Lapointe Anne-Marie Mes-Masson William D. Foulkes
author_sort	Supriya Behl
title	Founder BRCA1/BRCA2/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls
title_short	Founder BRCA1/BRCA2/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls
title_full	Founder BRCA1/BRCA2/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls
title_fullStr	Founder BRCA1/BRCA2/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls
title_full_unstemmed	Founder BRCA1/BRCA2/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls
title_sort	founder brca1/brca2/palb2 pathogenic variants in french-canadian breast cancer cases and controls
publisher	Nature Portfolio
publishDate	2020
url	https://doaj.org/article/b67ddaa5e9f64dcabd8141ee8ac1639b
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Founder BRCA1/BRCA2/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls

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