Ontology highlight
ABSTRACT:
SUBMITTER: Park DJ
PROVIDER: S-EPMC3322233 | biostudies-literature | 2012 Apr
REPOSITORIES: biostudies-literature
Park D J DJ Lesueur F F Nguyen-Dumont T T Pertesi M M Odefrey F F Hammet F F Neuhausen S L SL John E M EM Andrulis I L IL Terry M B MB Daly M M Buys S S Le Calvez-Kelm F F Lonie A A Pope B J BJ Tsimiklis H H Voegele C C Hilbers F M FM Hoogerbrugge N N Barroso A A Osorio A A Giles G G GG Devilee P P Benitez J J Hopper J L JL Tavtigian S V SV Goldgar D E DE Southey M C MC
American journal of human genetics 20120329 4
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 in 1,120 controls (the severity grading was p < 0.02). We also performed additional m ...[more]