Prevalence of germline BRCA mutations among women with carcinoma of the peritoneum or fallopian tube / 부인종양
Journal of Gynecologic Oncology
; : e43-2018.
Article
en En
| WPRIM
| ID: wpr-716093
Biblioteca responsable:
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.
Palabras clave
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Neoplasias Ováricas
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Neoplasias Peritoneales
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Peritoneo
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Variación Genética
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ADN
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Registros de Hospitales
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Prevalencia
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Mutación de Línea Germinal
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Genes BRCA1
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Genes BRCA2
Tipo de estudio:
Prevalence_studies
/
Risk_factors_studies
Límite:
Female
/
Humans
Idioma:
En
Revista:
Journal of Gynecologic Oncology
Año:
2018
Tipo del documento:
Article