A hereditary ovarian cancer family with rare pathogenic splicing mutation: implications for variant interpretation

Ovarian cancer (OC) is one of the most common malignancies and the second leading cause of death in gynecology. Owing to a lag in early detection and screening methods, the 5-year survival rate of OC is only about 46% [1, 2]. A large number of studies have shown that some cases of OC show familial inheritance. Women in this family are at much higher risk for ovarian, breast, peritoneal and other malignancies. Also known as familial/hereditary ovarian cancer syndrome (FHOCs), patients with FHOCs develop early and relapse quickly after treatment.
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Tags: Case Report Source Type: research