J Gynecol Oncol.  2018 Jul;29(4):e43. 10.3802/jgo.2018.29.e43.

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

• Choi MC
• Bae JS
• Jung SG
• Park H
• Joo WD
• Song SH
• Lee C
• Kim JH
• Lee KC
• Lee S
• Lee JH

• KMID: 2417435
• DOI: http://doi.org/10.3802/jgo.2018.29.e43

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.

Keyword

BRCA1 Gene; BRCA2 Gene; Mutation; Fallopian Tube Cancer; Peritoneal Neoplasms; Prevalence

MeSH Terms

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*
DNA