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.
Highlights
In individuals with BRCA1 and BRCA2 mutations, the risk of breast and ovarian carcinoma development is very high
The study data was obtained by screening the clinical files of the breast carcinoma patients who were treated between April 2013 and February 2017, and whose BRCA mutations were investigated
The BRCA1/2 mutation prevalence is higher in young patients, patients with first-degree relatives with breast or ovarian carcinomas, patients with triplenegative carcinomas, patients with bilateral carcinomas, patients with concomitant breast and ovarian carcinomas, and high genetic risk patients [5, 8, 12, 15, 17, 19,20,21, 24]
Summary
In individuals with BRCA1 and BRCA2 mutations, the risk of breast and ovarian carcinoma development is very high. Even in an Ashkenazi Jewish population without breast and ovarian carcinoma histories in their families, the BRCA mutation prevalence was 10% [11]. 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. 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 19%. In the Turkish population, the BRCA1/2 mutation prevalence ranges from 19% to 37% in patients with high-risk breast carcinomas. It is recommended to check for BRCA1/2 mutations in all high-risk breast carcinoma patients in the Turkish population
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