33. Tumor testing of DNA repair genes in high grade serous ovarian cancer (HGSOC); a potential tool for personalized therapy

Ovarian cancer is the leading cause of death in women with gynecological tumors. Approximately 28% of women with high-grade serous ovarian cancer (HGSOC) carry either a germline or acquired somatic variant in BRCA1 or BRCA2 resulting in deficient homologous recombination repair (HRR). HRR deficiency may also be attributed to loss-of-function variants in other HRR pathway genes. Inhibitors of poly (ADP-ribose) polymerase (PARP inhibitors) are approved for HGSOC patients as first-line maintenance therapy in the presence of a BRCA loss-of-function variant which could be expanded to other HRR pathway genes as additional clinical information becomes available.

Source: Cancer Genetics and Cytogenetics - May 31, 2020 Category: Genetics & Stem Cells Authors: Elizabeth McCready, Darci Butcher, Crystal Woodside, Dorsa Kord, Mona Lisa Sur, Alice Lytwyn, Kathleen Bell, Landry Nfonsam, Coleman Choi, Daria Grafodatskaya Source Type: research