Ontology highlight
ABSTRACT:
SUBMITTER: Lee C
PROVIDER: S-EPMC6005381 | biostudies-literature | 2015 Dec
REPOSITORIES: biostudies-literature
Lee Cindy C Banerjee Tapahsama T Gillespie Jessica J Ceravolo Amanda A Parvinsmith Matthew R MR Starita Lea M LM Fields Stanley S Toland Amanda E AE Parvin Jeffrey D JD
Human mutation 20150922 12
Genes associated with hereditary breast and ovarian cancer (HBOC) are often sequenced in search of mutations that are predictive of susceptibility to these cancer types, but the sequence results are frequently ambiguous because of the detection of missense substitutions for which the clinical impact is unknown. The BARD1 protein is the heterodimeric partner of BRCA1 and is included on clinical gene panels for testing for susceptibility to HBOC. Like BRCA1, it is required for homology-directed DN ...[more]