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Paired somatic and germline genetic testing for ovarian cancer patients: Observations, benefits, and implications for treatment

Session:
#5579
Date:
Monday, Jun 4, 2018 1:15pm – 4:45pm
Conference:
ASCO 2018
Authors:
Ashley Deckman, Daniel Chen, Erica Wellington, Holly Laduca, Lucia Guidugli, Melissa Pronold, Michelle Jackson, Monalyn Umali Salvador, Negar Ghahramani, Patrick Reineke
  • 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.
Abstract