Study of Molecular Association between CHEK2 Mutations and Breast Cancer

Background & Objectives: Breast cancer is the most common cancer among women and the second most common cause of cancer death among women. CHEK2 gene was known as a tumor suppressor gene which it plays a role in DNA repair. The germ line mutations in CEHK2 have been associated with cancers in different countries. Therefore, the aim of this study was to investigate association between CHEK2 mutations and Breast Cancer in Iranian patients. Methods: 1100delc, IVS 2 + 1G> A, del5395 and I157T mutations were assessed to investigate the association between CHEK2 gene mutations in 100 patients with breast cancer and 100 Normal controls. In this study, PCR RFLP, Allelic Specific PCR and Multiplex PCR were used. Results: 1100delc, I157T, del5395 mutations were not found in any of the patients and controls. IVS 2 + 1G> A mutation in the CHEK2 gene was found in 2 breast cancer patients. Conclusion: Our results demonstrated for the first time that CHK2 1100delC deletion in CHEK2 of 5,395 bp and I157T mutation have not been a genetic susceptibility factor for breast cancer in the Iranian patients.

Keywords:

Breast cancer , CHEK2 , Mutation