Article
A dominant RAD51C pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect.
Molecular genetics & genomic medicine - 1 Feb 2020
Dawson Lesa M, Smith Kerri N, Werdyani Salem, Ndikumana Robyn, Penney Cindy, Wiede Louisa L, Smith Kendra L, Pater Justin A, MacMillan Andrée, Green Jane, Drover Sheila, Young Terry-Lynn, O'Rielly Darren D
Abstract excerpt
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 probands sequenced negative for moderate- and high-risk genes but shared a recurrent variant of uncertain significance in RAD51C...
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