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Objectives  Hereditary breast and ovarian cancer syndrome is chacterized with multiple cases of breast cancer and/or ovarian cancer on the same side of the family. BRCA1/BRCA2 genes are associated with 20–25% of all patients. For developing national health policies for genetic testing, it is important to determine the range of pathogenic mutations in susceptibility genes and to identify recurrent founder mutations.    Materials and methods  All the patients were provided BRCA testing criteria according to National Comprehensive Cancer Network. QIAseq multiplex amplicon panel, BRCA MASTR™ Dx and Ion AmpliSeq Panel were used for BRCA1/BRCA2 coding regions. SALSA ®  MLPA ®  was performed for negative patients.    Results  Of 1419 patients, 134 (9.4%) were found to carry a pathogenic and 5 (0.3%) were found to carry a likely pathogenic mutation. Of those, 58 patients were found to carry a mutation in BRCA1 and 64 in BRCA2. Variant of uncertain significance was detected in 91 patients (6.4%).    Conclusion  The spectrum of BRCA1/2 mutations in Turkish population has been shown in the largest patient group to date. The thesis that founder mutations show diversity in different populations has been confirmed in our study, and the mutations that are common in Turkish population have been presented in this study.

Spectrum of BRCA1/BRCA2 variants in 1419 Turkish breast and ovarian cancer patients: a single center study