Article
Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.
PLoS genetics - 1 Sept 2012
Thompson Ella R, Doyle Maria A, Ryland Georgina L, Rowley Simone M, Choong David Y H, Tothill Richard W, Thorne Heather, Barnes Daniel R, Li Jason, Ellul Jason, Philip Gayle K, Antill Yoland C, James Paul A, Trainer Alison H, Mitchell Gillian, Campbell Ian G
Abstract excerpt
Despite intensive efforts using linkage and candidate gene approaches, the genetic etiology for the majority of families with a multi-generational breast cancer predisposition is unknown. In this study, we used whole-exome sequencing of thirty-three individuals from 15 breast cancer families to identify potential predisposing genes. Our analysis identified families with heterozygous, deleterious mutations in the...
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