Prevalence of germline BRCA mutations among women with carcinoma of the peritoneum or fallopian tube

• Published in: Journal of gynecologic oncology Vol. 29; no. 4; pp. 1 - 9
• Main Authors: Min Chul Choi, Jin-sik Bae, Sang Geun Jung, Hyun Park, Won Duk Joo, Seung Hun Song, Chan Lee, Ji-ho Kim, Ki-chan Lee, Sunghoon Lee, Je Ho Lee
• Format: Journal Article
• Language: Korean
• Published: 대한부인종양학회 01.07.2018
• Subjects: BRCA1 Gene; BRCA2 Gene; Fallopian Tube Cancer; Mutation; Peritoneal Neoplasms; Prevalence
• ISSN: 2005-0380

Objective: 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. Methods: 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.