Prevalence of germline BRCA mutations among women with carcinoma of the peritoneum or fallopian tube / 부인종양
Journal of Gynecologic Oncology
; : e43-2018.
Artigo
em Inglês
| WPRIM (Pacífico Ocidental)
| ID: wpr-716093
Biblioteca responsável:
WPRO
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.
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Neoplasias Ovarianas
/
Neoplasias Peritoneais
/
Peritônio
/
Variação Genética
/
DNA
/
Registros Hospitalares
/
Prevalência
/
Mutação em Linhagem Germinativa
/
Genes BRCA1
/
Genes BRCA2
Tipo de estudo:
Estudo de prevalência
/
Fatores de risco
Limite:
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Journal of Gynecologic Oncology
Ano de publicação:
2018
Tipo de documento:
Artigo