Onkologie. 2022:16(4):195-199 | DOI: 10.36290/xon.2022.037

Genetic testing in ovarian cancer

Jana Soukupová

Laboratoř onkogenetiky, Ústav lékařské biochemie a laboratorní diagnostiky, 1. LF UK a VFN v Praze

Ovarian cancer is a disease with a significant hereditary component. Hereditary mutations in clinically relevant genes (including BRCA1 and BRCA2) are found in one in four patients in our population. Therefore, genetic testing for germline mutations is indicated for every patient with this disease (epithelial ovarian, fallopian tube or peritoneal cancer), regardless of the histopathological type of ovarian tumour or age at diagnosis. Nearly one in five patients (up to 20% of all patients with ovarian cancer) carries a pathogenic germline mutation in the BRCA1 and BRCA2 genes. Genetic testing has prognostic and predictive value for the patient herself. Carriers of mutations in the BRCA1 and BRCA2 genes generally respond better to treatment with platinum derivatives, and this treatment can be applied in higher lineages. In addition, genetic testing of germline mutations allows targeted genetic counselling in the patient`s family, identification of individuals at risk and appropriate surveillance management of the patient and her positively tested healthy relatives. Germline as well as somatic mutations in BRCA1 and BRCA2 genes may also play a role in the consideration of the indication of a specific poly-ADP-ribose polymerase inhibitor (PARPi). Somatic mutations in BRCA1 and BRCA2 are found in an additional 5-9% of women with ovarian cancer. Simultaneous testing for germline and somatic mutations will allow for more efficient identification of patients who are potential candidates for one type of PARPi maintenance therapy, while also detecting healthy relatives at high risk of developing breast and ovarian cancer in particular.

Keywords: ovarian cancer, germline mutation, somatic mutation, predisposition genes, genetic testing, indication.

Accepted: August 22, 2022; Published: August 24, 2022  Show citation