Germline Mutations in BRCA1 and BRCA2 in Breast Cancer Patients with High Genetic Risk in Turkish Population.

IF 1.6 Q4 ONCOLOGY

International Journal of Breast Cancer Pub Date : 2019-01-01 DOI:10.1155/2019/9645147

Caglayan Geredeli, Nurgul Yasar, Abdullah Sakin

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引用次数: 17

Abstract

Background: The guidelines recommend considering the BRCA1 and BRCA2 germline mutations in female patients with breast carcinomas. In this retrospective study, the BRCA1/2 mutation prevalence in high-risk breast carcinoma patients in a Turkish population was investigated.

Materials and methods: In high genetic risk breast carcinoma patients, the BRCA1 and BRCA2 germline mutations were identified by applying next-generation sequencing.

Results: The results showed BRCA1/2 mutations in 19% of the total patients. In those with first-degree relatives with breast carcinoma histories, the BRCA1/2 mutation prevalence was also 19%. In the patients younger than 40 years old, the BRCA1/2 mutation prevalence was 19.5%. In the triple-negative breast carcinoma patients younger than 60 years old, the BRCA1/2 mutation prevalence was 24.2%. In the patients younger than 40 years old with triple-negative breast carcinomas, BRCA1/2 mutation positivity was found in 37.5% of the patients. Overall, in the Turkish population, the BRCA1/2 mutation prevalence ranges from 19% to 37% in patients with high-risk breast carcinomas.

Conclusion: It is recommended to check for BRCA1/2 mutations in all high-risk breast carcinoma patients in the Turkish population.

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土耳其人群高遗传风险乳腺癌患者BRCA1和BRCA2种系突变

背景:指南建议在女性乳腺癌患者中考虑BRCA1和BRCA2种系突变。在这项回顾性研究中，BRCA1/2突变在土耳其高危乳腺癌患者中的患病率进行了调查。材料与方法:在高遗传风险乳腺癌患者中，应用新一代测序技术鉴定BRCA1和BRCA2种系突变。结果:BRCA1/2突变占总患者的19%。在有乳腺癌病史的一级亲属中，BRCA1/2突变的患病率也为19%。在40岁以下的患者中，BRCA1/2突变患病率为19.5%。在60岁以下的三阴性乳腺癌患者中，BRCA1/2突变发生率为24.2%。在40岁以下的三阴性乳腺癌患者中，37.5%的患者BRCA1/2突变阳性。总体而言，在土耳其人群中，BRCA1/2突变在高危乳腺癌患者中的患病率为19%至37%。结论:建议在土耳其人群中所有高危乳腺癌患者中检查BRCA1/2突变。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

International Journal of Breast Cancer ONCOLOGY-

CiteScore

3.40

自引率

0.00%

发文量

审稿时长

19 weeks

期刊介绍： International Journal of Breast Cancer is a peer-reviewed, Open Access journal that provides a forum for scientists, clinicians, and health care professionals working in breast cancer research and management. The journal publishes original research articles, review articles, and clinical studies related to molecular pathology, genomics, genetic predisposition, screening and diagnosis, disease markers, drug sensitivity and resistance, as well as novel therapies, with a specific focus on molecular targeted agents and immune therapies.