Article
Rare mutations in XRCC2 increase the risk of breast cancer.
American journal of human genetics - 6 Apr 2012
Park D J, Lesueur F, Nguyen-Dumont T, Pertesi M, Odefrey F, Hammet F, Neuhausen S L, John E M, Andrulis I L, Terry M B, Daly M, Buys S, Le Calvez-Kelm F, Lonie A, Pope B J, Tsimiklis H, Voegele C, Hilbers F M, Hoogerbrugge N, Barroso A, Osorio A, Giles G G, Devilee P, Benitez J, Hopper J L, Tavtigian S V, Goldgar D E, Southey M C
Abstract excerpt
An exome-sequencing study of families with multiple breast-cancer-affected individuals identified two families with XRCC2 mutations, one with a protein-truncating mutation and one with a probably deleterious missense mutation. We performed a population-based case-control mutation-screening study that identified six probably pathogenic coding variants in 1,308 cases with early-onset breast cancer and no variants...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.