Ontology highlight
ABSTRACT:
SUBMITTER: Borg A
PROVIDER: S-EPMC2928257 | biostudies-literature | 2010 Mar
REPOSITORIES: biostudies-literature
Borg Ake A Haile Robert W RW Malone Kathleen E KE Capanu Marinela M Diep Ahn A Törngren Therese T Teraoka Sharon S Begg Colin B CB Thomas Duncan C DC Concannon Patrick P Mellemkjaer Lene L Bernstein Leslie L Tellhed Lina L Xue Shanyan S Olson Eric R ER Liang Xiaolin X Dolle Jessica J Børresen-Dale Anne-Lise AL Bernstein Jonine L JL
Human mutation 20100301 3
BRCA1 and BRCA2 screening in women at high-risk of breast cancer results in the identification of both unambiguously defined deleterious mutations and sequence variants of unknown clinical significance (VUS). We examined a population-based sample of young women with contralateral breast cancer (CBC, n=705) or unilateral breast cancer (UBC, n=1398). We identified 470 unique sequence variants, of which 113 were deleterious mutations. The remaining 357 VUS comprised 185 unique missense changes, 60% ...[more]