Prevalence of germline BRCA mutations among women with carcinoma of the peritoneum or fallopian tube
| Autor: | Won Duk Joo, Jin Sik Bae, Chan Lee, Min Chul Choi, Sung Hoon Lee, Je Ho Lee, Ji Ho Kim, Seung Hun Song, Ki Chan Lee, Hyun Park, Sang Geun Jung |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Oncology medicine.medical_specialty Mutation business.industry PALB2 Fallopian tube carcinoma Obstetrics and Gynecology General Medicine medicine.disease medicine.disease_cause Germline 03 medical and health sciences 030104 developmental biology 0302 clinical medicine medicine.anatomical_structure Germline mutation 030220 oncology & carcinogenesis Fallopian tube cancer Internal medicine Carcinoma Medicine business Fallopian tube |
| Zdroj: | Journal of Gynecologic Oncology. 29 |
| ISSN: | 2005-0399 2005-0380 |
| DOI: | 10.3802/jgo.2018.29.e43 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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