Women with hereditary breast and ovarian cancer (HBOC) syndrome represent a unique
group who are diagnosed at a younger age and result in an increased lifetime risk for …

Importance Germline pathogenic variants inBRCA1andBRCA2predispose to an increased
lifetime risk of breast cancer. However, the relevance of germline variants in other genes …

Importance Germline mutations inBRCA1andBRCA2are relatively common in women with
ovarian, fallopian tube, and peritoneal carcinoma (OC) causing a greatly increased lifetime …

PALB2 was first identified as a partner of BRCA2 that mediates its recruitment to sites of
DNA damage. PALB2 was subsequently found as a tumor suppressor gene. Inherited …

Importance Since the discovery ofBRCA1andBRCA2, multiple high-and moderate-
penetrance genes have been reported as risk factors for hereditary breast cancer, ovarian …

Inherited loss-of-function mutations in the tumor suppressor genes BRCA1, BRCA2, and
multiple other genes predispose to high risks of breast and/or ovarian cancer. Cancer …

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 …

Background BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi
Anaemia Complementation (FANC) group family of DNA repair proteins. Biallelic mutations …

Background Most currently known breast cancer predisposition genes play a role in DNA
repair by homologous recombination. Recent studies conducted on RAD51 paralogs …

Germline pathogenic variants (GPVs) in the cancer predisposition genes BRCA1, BRCA2,
MLH1, MSH2, MSH6, BRIP1, PALB2, RAD51D and RAD51C are identified in approximately …