Session # 5579

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
  • Conference: American Society of Clinical Oncology (ASCO) 2018
  • Date: Monday, Jun 04, 2018 1:15pm - 4:45pm

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