FANCM, RAD1, CHEK1 and TP53I3 Act as BRCA-like Tumor Suppressors and are Mutated in Hereditary Ovarian Cancer

Despite the large heritable component to OVCA, the majority of underlying genetic risk remains unexplained [1]. OVCA is rare, displays variable penetrance, and has a high degree of underlying genetic heterogeneity. The clinical implications of a novel risk locus, is therefore difficult to accurately establish through case control associative studies [2, 3]. Additionally, implicating a variant based on segregation is not ideal due to incomplete penetrance and lack of informative family members. Whole exome/genome sequencing (WES/WGS) of affected individuals with compelling family histories is a promising approach for the identification of putative germline novel risk loci.
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Tags: Original Article Source Type: research