Prevalence of germline BRCA mutations among women with carcinoma of the peritoneum or fallopian tube / 부인종양
Journal of Gynecologic Oncology
; : e43-2018.
Article
ي En
| WPRIM
| ID: wpr-716093
المكتبة المسؤولة:
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.
Key words
النص الكامل:
1
الفهرس:
WPRIM
الموضوع الرئيسي:
Ovarian Neoplasms
/
Peritoneal Neoplasms
/
Peritoneum
/
Genetic Variation
/
DNA
/
Hospital Records
/
Prevalence
/
Germ-Line Mutation
/
Genes, BRCA1
/
Genes, BRCA2
نوع الدراسة:
Prevalence_studies
/
Risk_factors_studies
المحددات:
Female
/
Humans
اللغة:
En
مجلة:
Journal of Gynecologic Oncology
السنة:
2018
نوع:
Article