Identification of germ-line 185delAG BRCA1 mutation among breast cancer families in Iran: An experience from northeastern Iran.

e22079 Background: The present study evaluated the prevalence of 185DelAG BRCA1 mutation in the group of Iranian women breast cancer patients, or their relative with family history of breast cancer. Breast cancer is the most common malignancy in women and the leading cause of cancer death in females worldwide. BRCA1 is among the best known cancer susceptibility genes with high penetrance and have multiple cellular functions including critical roles in homologous DNA repair. Identifying gremlin BRCA mutations associated with significant cancer susceptibility has the potential to change all aspects of an individual's care, from screening to cancer treatment. The combination of breast cancer susceptibility alleles together with other risk factors may be important clinically. Methods: Subjects included in this study were thirty nine patients diagnosed with breast cancer and 29 women, from first degree relative of patients. The clinical and demographic details from these individuals were collected from medical records, pathological reports, and when needed and using a detailed questionnaire. Genomic DNA from peripheral blood mononuclear cells was extracted and analyzed by polymerase chain reaction and SSCP methods in order to finding 185DelAG founder mutation. Results: The results indicated that four patients and three healthy relatives had this founder mutation. The identification of these founder mutations facilitates mutation population screening and subsequent management options available to an individual woman including screening or prevention are then dependent on this level of assessed risk. Conclusions: Finally identifying the effective risks regarding breast cancer among Iranian women requires many works. However, a complete BRCA1 gene sequence analysis might be useful, regarding targeted cancer prevention and therapeutics.