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198 Germline and somatic BRCA1/2 gene mutational status and clinical outcomes in epithelial peritoneal, ovarian, and fallopian tube cancer
  1. S Kim,
  2. M Lee,
  3. H Kim and
  4. J Kim
  1. Seoul National University College of Medicine, South Korea


Purpose To present a single institutional experience with BRCA1/2 gene tests and the effects of pathogenic mutations in epithelial peritoneal, ovarian, and fallopian tube cancer (POFTC) on survival outcomes.

Methods We identified patients with epithelial POFTCs who underwent BRCA1/2 gene testing by either germline or somatic methods between March 2007 and March 2020. Based on the BRCA1/2 test results, patients were divided into BRCA mutation and wild-type groups, followed by comparisons of clinicopathologic characteristics and survival outcomes after primary treatment.

Results The annual number of POFTC patients who received BRCA1/2 gene tests increased gradually. In total, 511 patients were included and BRCA1/2 mutations were observed in 143 (28.0%). Among 57 patients who received both germline and somatic tests, three (5.3%) showed discordant results from the two tests. Overall, no differences in progression-free survival (PFS; P=0.467) and overall survival (P=0.641) were observed between the BRCA mutation and wild-type groups; however, multivariate analyses identified BRCA1/2 mutation as an independent favorable prognostic factor for PFS (adjusted HR, 0.765; 95% CI, 0.593–0.987; P=0.040). In 389 patients with FIGO stage III-IV, different results were shown depending on primary treatment strategy: while BRCA1/2 mutation significantly improved PFS in the subgroup of neoadjuvant chemotherapy (adjusted HR, 0.619; 95% CI, 0.385–0.995; P=0.048), it did not affect patient PFS in the subgroup of primary debulking surgery (adjusted HR, 0.759; 95% CI, 0.530−1.089; P=0.135).

Conclusions BRCA1/2 mutations are frequently observed in patients with epithelial POFTCs, and such patients showed better PFS than did those harboring wild-type BRCA1/2.

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