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EP730 Prevalence of germline BRCA mutations among women with carcinoma of the peritoneum or fallopian tube
  1. C Lee,
  2. MC Choi,
  3. H Park,
  4. SG Jung,
  5. WD Joo and
  6. SH Song
  1. Comprehensive Gynecologic Cancer Center, CHA University/CHA Bundang Medical Center, Seongnam-si, Republic of Korea


Introduction/Background The aim of the present study was to assess the frequency of germline mutations in patients with peritoneal carcinoma (PC) or the fallopian tube carcinoma (FTC), using a multi-gene panel.

Methodology Twenty-six patients diagnosed with either PC or FTC between January 2013 and December 2016 were recruited consecutively. Germline DNA was sequenced using a 6-gene next generation sequencing (NGS) panel following genetic counseling. Surgico-medical information was obtained from hospital records. Genetic variations were detected using the panel and were cross-validated by Sanger direct sequencing.

Results Germline BRCA1/2 mutations were identified in 6 patients (23.1%). Four were detected in patients with PC and 2 were in FTC patients. No mutations were detected in TP53, PTEN, CDH1, or PALB2. We identified 11 variant of uncertain significance (VUS) in 9 patients; 2 in BRCA1, 3 in BRCA2, 2 in TP53, and 4 in CDH1. We also detected a CDH1 c.2164+16->A VUS in 3 patients.

Conclusion The prevalence of germline BRCA1/2 mutations in patients with PC or FTC is comparable to that of BRCA1/2 mutations in epithelial ovarian cancer patients.

Disclosure Nothing to disclose.

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