A dominant RAD51C pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect

A dominant RAD51C pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect

Abstract Background RAD51C is important in DNA repair and individuals with pathogenic RAD51C variants have increased risk of hereditary breast and ovarian cancer syndrome (HBOC), an autosomal dominant genetic predisposition to early onset breast and/or ovarian cancer. Methods Five female HBOC proban...

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Bibliographic Details
Main Authors: Lesa M. Dawson, Kerri N. Smith, Salem Werdyani, Robyn Ndikumana, Cindy Penney, Louisa L. Wiede, Kendra L. Smith, Justin A. Pater, Andrée MacMillan, Jane Green, Sheila Drover, Terry‐Lynn Young, Darren D. O’Rielly
Format: Article
Language:English
Published: Wiley 2020-02-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
founder variant
hereditary breast and ovarian cancer
RAD51C
splicing
variant of uncertain significance
Online Access:https://doi.org/10.1002/mgg3.1070

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