Paired somatic and germline genetic testing for ovarian cancer patients: Observations, benefits, and implications for treatment
Study participants consisted of 160 consecutive ovarian cancer patients undergoing paired testing of genes in the homologous recombination (HR) repair pathway at a clinical diagnostic laboratory.
In total, 76/160 patients (47.5%) were eligible for PARP-inhibitor therapy based on the presence of a germline (n=7, 9.2%), somatic (n=63, 82.9%) or germline and somatic (n=6, 7.9%) BRCA1 or BRCA2 pathogenic mutation. In addition, 27% were germline and tumor BRCA1/2-negative, but tested positive for germline or somatic pathogenic mutations in other HR genes or tumor promoter methylation in BRCA1 or RAD51C.
Our findings highlight the benefits of paired testing over germline and/or somatic testing alone, such as concurrent confirmation of germline mutations and maximizing detection of patients who would benefit from therapy.
Authors: Daniel Chen; Patrick Reineke; Negar Ghahramani; Ashley Deckman; Erica Wellington; Monalyn Umali-Salvador; Lucia Guidugli; Melissa Pronold; Holly LaDuca; Michelle Jackson