Prevalence of germline BRCA mutations among women with carcinoma of the peritoneum or fallopian tube.
- Author:
Min Chul CHOI
1
;
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
Author Information
- Publication Type:Original Article
- Keywords: BRCA1 Gene; BRCA2 Gene; Mutation; Fallopian Tube Cancer; Peritoneal Neoplasms; Prevalence
- MeSH: DNA; Fallopian Tube Neoplasms; Fallopian Tubes*; Female; Genes, BRCA1; Genes, BRCA2; Genetic Counseling; Genetic Variation; Germ-Line Mutation; Hospital Records; Humans; Ovarian Neoplasms; Peritoneal Neoplasms; Peritoneum*; Prevalence*
- From:Journal of Gynecologic Oncology 2018;29(4):e43-
- CountryRepublic of Korea
- Language:English
- Abstract: 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.
