AbstractPurpose of review
There is an increasing interest in the role of routine testing for germline mutations in the management and outcome of gynaecological cancers as the therapeutic options for these patients develop, and knowledge about specific gene risks increase. This review focuses on recent literature assessing these areas of interest.Recent findings
Systemic treatment options continue to increase, with two recent studies (SOLO2 and ARIEL-3) of the use of PARP inhibitors in the maintenance setting; and approval of pembrolizomab for mismatch repair deficient/microsatellite unstable tumours. Several studies have addressed the resultant increased demand for testing for Lynch syndrome and BRCA1/2 mutations in endometrial and ovarian cancers, respectively. Finally, several studies have assessed gene and age-specific risks for ovarian cancer, and the role of specific site mutations within BRCA2 in determining duration of PARP response, and clinical outcome.Summary
The use of genomic information to guide treatment choices, and inform outcome is an exciting and rapidly expanding field. These recent studies provide additional support to suggest that testing for inherited mutations should be a routine part of care for these gynaecological patients care.