Ontology highlight
ABSTRACT:
SUBMITTER: Zarrizi R
PROVIDER: S-EPMC7410048 | biostudies-literature | 2020 Aug
REPOSITORIES: biostudies-literature
Zarrizi Reihaneh R Higgs Martin R MR Voßgröne Karolin K Rossing Maria M Bertelsen Birgitte B Bose Muthiah M Kousholt Arne Nedergaard AN Rösner Heike H Network The Complexo TC Ejlertsen Bent B Stewart Grant S GS Nielsen Finn Cilius FC Sørensen Claus S CS
The Journal of clinical investigation 20200801 8
Haploinsufficiency of factors governing genome stability underlies hereditary breast and ovarian cancer. One significant pathway that is disabled as a result is homologous recombination repair (HRR). With the aim of identifying new candidate genes, we examined early-onset breast cancer patients negative for BRCA1 and BRCA2 pathogenic variants. Here, we focused on CtIP (RBBP8 gene), which mediates HRR through the end resection of DNA double-strand breaks (DSBs). Notably, these patients exhibited ...[more]