Genetic abnormalities in the DNA repair genes BRCA1 and BRCA2 predispose to hereditary
breast and ovarian cancer (HBOC). However, only approximately 25% of cases of HBOC …

Homologous recombination (HR) is a highly accurate DNA repair mechanism. Several HR
genes are established cancer susceptibility genes with clinically actionable pathogenic …

Bloom's syndrome is an autosomal recessive disorder characterized by prenatal and
postnatal growth deficiency, photosensitive skin changes, immune deficiency, insulin …

Homologous recombination (HR) is a highly conserved DNA repair mechanism that protects
cells from exogenous and endogenous DNA damage. Breast cancer 1 (BRCA1) and breast …

Breast and ovarian cancers are some of the most common tumors in females, and the
genetic predisposition is emerging as one of the key risk factors in the development of these …

Constitutional loss-of-function pathogenic variants in the tumor suppressor genes BRCA1
and BRCA2 are widely associated with an elevated risk of ovarian cancer (OC). As only …

High-grade serous ovarian carcinoma (HGSOC) has a significant hereditary component,
only half of which is explained. Previously, we performed germline exome sequencing on …

Cancer risks in heterozygous mutation carriers of the ATM, BLM, and FANCC genes are
controversial. To shed light on this issue, cancer rates were evaluated by cross referencing …

Familial cancer syndromes, which are commonly caused by germline mutations in
oncogenes and tumor suppressor genes, are generally considered to be the cause of …

Bloom syndrome (BS) is an exceptionally rare hereditary disease. Typical manifestations of
BS usually include growth deficiency, a characteristic facial appearance, skin …