Study the Molecular Association between a Deletion Mutation in CHEK۲ gene (۵۳۹۵ bp) and Breast Cancer

Background & Objectives: Breast cancer is the most common cancer among women and the second most common cause of cancer death. Genetic factors play an important role in the development of breast cancer. Among these genetic factors, CHEk۲ (checkpoint kinase ۲) gene, as a tumor suppressor gene, plays a critical role in DNA repair. Germline mutations in CEHK۲ result in the loss of this feature. One of the mutations in CHEK۲ gene is a ۵۳۹۵ bp deletion mutation which has been associated with the increasing risk of Breast Cancer in some populations in the world.  In the present study, we investigated the association between a ۵۳۹۵ bp deletion mutation in CHEK۲ gene and the risk of Breast Cancer in the women of an Iranian population. Methods: Pathologic information of ۳۸ cases under the age of ۴۵ and ۶۲ cases over the age of ۴۵ referring to surgery ward of Milad Hospital in Tehran were extracted. ۱۰۰ healthy controls were included in the study as well. After obtaining informed consent, ۵ mL whole blood was taken DNA was successfully isolated. Multiplex PCR was used to investigate the association between a ۵۳۹۵bp deletion mutation in CHEK۲ gene and increasing risk of Breast Cancer among patients. Results: The ۵۳۹۵bp deletion mutation in CHEK۲ gene was not found in any of the participating groups of patients or heathy controls. Conclusion: The present study revealed that there is no significant relation between increasing the risk of Breast Cancer and bearing large deletion mutation in exon ۹ and exon ۱۰ of CHECK۲ gene.

Keywords:

Breast Cancer , CHEK۲ , ۵۳۹۵ bp Deletion Mutation , سرطان پستان , CHEK۲ , جهش حذف ۵۳۹۵bp ژن