Background: BRCA-1 and BRCA-2 are two major susceptibility genes for breast cancer. Between 30-70 % of hereditary breast cancers are thought to be attributed to mutations in BRCA-1 or BRCA-2. The aim of our study was to investigate the clinicopathologic characteristics and BRCA mutations of patients with breast cancer living in the northeast region of Turkey.
Materials and methods: Two hundred eleven patients diagnosed with breast cancer were enrolled in the present study. All patients provided their demographic, environmental, family, and reproductive traits. Patients were screened for mutations of BRCA-1 and BRCA-2 with multiple ligation-dependent probe amplification (MLPA) test.
Results: In the present study, the mean age of breast cancer patients was 50.7 years and the mean age at first delivery was 21.8 years. Large genomic rearrangements in BRCA-1 were detected in 4 (1.9 %) patients; 2 of them had exon 21 deletions and the remaining 2 patients had exon 18 and 19 deletions. No BRCA-2 rearrangements were detected in the study population.
Conclusions: Different mutation analyses results were detected in different countries by using different testing techniques. The characteristics and sensitivities of patients as determined by all methods were different in these studies. Due to these factors, BRCA mutation rates were different. This is the first study where MLPA was used to screen BRCA-1 and BRCA-2 mutations in Turkish population (Tab. 1, Ref. 10).