The incidence of common point mutations in BRCA-1 and BRCA-2 in our region

According to the World Health Organization, breast cancer is the most common malignant tumor among women in the world, accounts for approximately 25% of all female cancers. A breast cancer is a cancer type which is the most common cause of death in women with accounting for 14.7%. Its incidence increases with age. Even though breast cancer can be seen in all age groups, yet the familial cases usually seen at an early age. The etiology of breast cancer is multifactorial due to biological and clinical heterogeneity. BRCA 1,2 mutations account for the majority of the breast cancers caused by the point mutations, and for 3% of the general breast cancers. Hundreds of different mutations distributed throughout the coding regions in BRCA 1 and BRCA 2 genes have been reported. Many methods are used to identify these mutations. One of them is the real-time PCR. In our study, we aimed to detect common mutations identified in women with breast cancer at young age (below 42 years old) who evaluated parameters such as ER, PR, HER 2, age, tumor localization, tumor diamater and grade presented to Diyarbakir Dicle University Department of Pathology and using "LightCycler" PCR machine by Roche with Hybdidization Probe Method from PCR SPecific determination group in order to identify common mutations including BRCA 1 (rs80357713, rs80357906, rs28897672) ve BRCA 2 (rs80359550). According to our data, out of 96 cases we detected only one rs80357906 [5382insc] point mutations related to BRCA 1 gene family. This number has been quite insufficient for statistical analysis. The number of patients in this study was 96. Compared with studies in the literature, the number of our cases is quite small. We had a heterogeneous group of patients in the study. We beleive would have been possible to achieve to different results with repetition of study by choosing a particular histological type or molecular subtypes or specific groups of patients.