Genetic Testing for Epithelial Ovarian Cancer

Publication date: Available online 16 January 2020Source: Best Practice & Research Clinical Obstetrics & GynaecologyAuthor(s): Noa Amin, Narda Chaabouni, Angela GeorgeAbstractAs the treatment of epithelial ovarian cancer moves further into personalised medicine, the importance of determining the presence or absence of inherited mutations in cancer susceptibility genes has grown. It is now becoming routine to test for germline mutations in the BRCA1 and BRCA2 genes, which are responsible for a significant proportion of hereditary epithelial ovarian cancer and are established predictive biomarkers of potential benefit from poly ADP ribose polymerase (PARP) inhibitors. The identification of patients with hereditary ovarian cancer allows the patient to benefit from personalised treatment, while allowing family members to undergo cascade testing, where identification of unaffected carriers can allow early detection, risk-reduction or prevention for both breast and ovarian cancer, and ultimately improve long-term outcomes. Other susceptibility genes, include the Lynch Syndrome (mismatch repair) genes and several other genes involved in the homologous recombination pathway (HRD genes), are implicated in ovarian cancer genesis, and are also becoming of increasing interest as therapeutic options grow for these patients. This review will highlight the importance of the early detection of a germline gene pathogenic variant which informs on the clinical course of disease in a particular ...
Source: Best Practice and Research Clinical Obstetrics and Gynaecology - Category: OBGYN Source Type: research