Ontology highlight
ABSTRACT:
SUBMITTER: Schubert S
PROVIDER: S-EPMC5369655 | biostudies-literature | 2017 Jan
REPOSITORIES: biostudies-literature
Schubert Stephanie S Ripperger Tim T Rood Melanie M Petkidis Anthony A Hofmann Winfried W Frye-Boukhriss Hildegard H Tauscher Marcel M Auber Bernd B Hille-Betz Ursula U Illig Thomas T Schlegelberger Brigitte B Steinemann Doris D
Genes & cancer 20170101 1-2
<i>GT198</i>, located 470 kb downstream of <i>BRCA1</i>, encodes for the nuclear PSMC3-interacting protein, which functions as co-activator of steroid hormone-mediated gene expression, and is involved in RAD51 and DMC1-mediated homologous recombination during DNA repair of double-strand breaks. Recently, germline variants in <i>GT198</i> have been identified in hereditary breast and ovarian cancer (HBOC) patients, mainly in cases with early-onset. We screened a cohort of 166 <i>BRCA1/2</i> mutat ...[more]