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Objectives To find  BRCA1/2  test selection criteria unique to the Turkish population, as well as to provide the  BRCA1/2  gene mutation distributions of patient population to the literature. Methods Genetic counseling was given to 2,373 cases with a family history of high-risk breast and/or ovarian cancer who applied to Istanbul University, Oncology Institute, Department of Cancer Genetics between 1994 and 2021 and selected by NCCN Guidelines for the  BRCA1/2  test criteria. In our clinic, mutation screenings in  BRCA1/2  genes were performed by Sanger sequencing method in patients admitted between 1994 and 2014 and by NGS method in patients admitted between 2015 and 2021. Results The overall mutation rate in our patient group selected from high-risk patients was 16.5% (391/2,373) after  BRCA1/2  gene mutation screening performed in 2,373 cases who applied to the Cancer Genetics clinic. Of the patients with mutations, 57.5% (225/391) had  BRCA1  mutation, 41.9% (164/391) had  BRCA2  mutation, and 0.6% (2/391) had both  BRCA1  and  BRCA2  pathogenic mutations. People diagnosed before the age of 60 who have a history of triple-negative breast cancer had a 28.5% overall mutation rate. Conclusions BRCA1/2  mutation in Turkish population were evaluated in accordance with NCCN  BRCA1/2  genetic test selection criteria; we discovered that all of our study results were statistically significant (p&lt;0.05).

Evaluation of BRCA1/2 gene mutations in patients with high-risk breast and/or ovarian cancer in Turkey