Article
A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer.
Cancer discovery - 1 Nov 2016
Vijai Joseph, Topka Sabine, Villano Danylo, Ravichandran Vignesh, Maxwell Kara N, Maria Ann, Thomas Tinu, Gaddam Pragna, Lincoln Anne, Kazzaz Sarah, Wenz Brandon, Carmi Shai, Schrader Kasmintan A, Hart Steven N, Lipkin Steve M, Neuhausen Susan L, Walsh Michael F, Zhang Liying, Lejbkowicz Flavio, Rennert Hedy, Stadler Zsofia K, Robson Mark, Weitzel Jeffrey N, Domchek Susan, Daly Mark J, Couch Fergus J, Nathanson Katherine L, Norton Larry, Rennert Gad, Offit Kenneth
Abstract excerpt
Known gene mutations account for approximately 50% of the hereditary risk for breast cancer. Moderate and low penetrance variants, discovered by genomic approaches, account for an as-yet-unknown proportion of the remaining heritability. A truncating mutation c.325C>T:p.Arg109* (R109X) in the ATP-dependent helicase ERCC3 was observed recurrently among exomes sequenced in BRCA wild-type, breast cancer-affected...
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