土耳其人群中具有高遗传风险的乳腺癌患者BRCA1和BRCA2的种系突变
Germline Mutations in BRCA1 and BRCA2 in Breast Cancer Patients with High Genetic Risk in Turkish Population.
作者信息
Geredeli Caglayan, Yasar Nurgul, Sakin Abdullah
机构信息
Okmeydani Training and Research Hospital, Medical Oncology Clinic, İstanbul, Turkey.
Yuzuncu Yil University Medical School, Department of Medical Oncology, Van 65090, Turkey.
出版信息
Int J Breast Cancer. 2019 Jan 1;2019:9645147. doi: 10.1155/2019/9645147. eCollection 2019.
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.
背景
指南建议对患有乳腺癌的女性患者考虑进行BRCA1和BRCA2种系突变检测。在这项回顾性研究中，调查了土耳其人群中高危乳腺癌患者的BRCA1/2突变患病率。
材料与方法
在高遗传风险乳腺癌患者中，通过应用下一代测序技术鉴定BRCA1和BRCA2种系突变。
结果
结果显示，在所有患者中，19%存在BRCA1/2突变。在有乳腺癌家族史的一级亲属患者中，BRCA1/2突变患病率也为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突变患病率为24.2%。在40岁以下的三阴性乳腺癌患者中，37.5%的患者BRCA1/2突变呈阳性。总体而言，在土耳其人群中，高危乳腺癌患者的BRCA1/2突变患病率在19%至37%之间。
结论
建议对土耳其人群中所有高危乳腺癌患者进行BRCA1/2突变检测。
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