جهش های ژنتیکی جدید در ژن های اصلی سرطان پستان (BRCA1/BRCA2) در زنان ایرانی مبتلا به سرطان پستان زودرس

Background: Breast cancer is the most common female malignancy and the main cause of death in  mid-aged women. Genetic germ line mutations in BRCAI/BRCA2 in Iranian women with breast or  ovarian cancer have not been yet reported. Materials and methods: Clinical data, family history and blood samples were obtained from 83  females aged less than 45 years with primary breast cancer in order to survey genetic mutations in  BRCA1/BRCA2. Exon 11 of BRCA1 and exons 10 and 1 I of BRCA2 were analyzed by Protein  Truncation Test (PTT), however, exons 2,3,5,13, and 20 of BRCA1 and 9,17,18, and 23 of BRCA2  were analyzed using Single-Strand Conformation Polymorphism (SSCP) technique.  Results: We have found 10 genetic mutations for the first time among Iranian females with breast  cancer. Of these, 5 were frameshift (4 were found for the ilrst time), 3 were missense (with unknown  influence on breast cancer), and 2 were polymorphism (one was common among Iranian and British  subjects). Conclusion: Our findings reveal that each country must have a specific data bank of its own genetic   mutations for breast cancer, based on which, screening planning may run. Epidemiologicaly early  breast cancer (before 45 years) and family history of breast cancer are quite adequate to run a  screening program however, sporadic breast cancer (with 5% probability of recognizing genetic  mutation) is not cost effective.