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

ConclusionTheRAD51C c.571  + 4A >  G variant affects mRNA splicing and should be re‐classified as pathogenic according to American College of Medical Genetics and Genomics guidelines.

Source: Molecular Genetics & Genomic Medicine - November 27, 2019 Category: Genetics & Stem Cells Authors: Lesa M. Dawson, Kerri N. Smith, Salem Werdyani, Robyn Ndikumana, Cindy Penney, Louisa L. Wiede, Kendra L. Smith, Justin A. Pater, Andr ée MacMillan, Jane Green, Sheila Drover, Terry‐Lynn Young, Darren D. O’Rielly Tags: ORIGINAL ARTICLE Source Type: research