Detection of CHEK2 1100delC mutation in BRCA-negative individuals from hereditary breast cancer families in Gaza strip

الملخص EN

Checkpoint kinase (CHEK2) encodes a cell cycle checkpoint kinase that plays an important role in the DNA damage repair pathway , activated mainly by ATM (Ataxia Telangiectasia Mutated) in response to double-stranded DNA breaks.

It is known as a tumor suppressor gene in breast cancer (BC) and have been associated with different types of cancer.

About 5%-10% of all BC are associated with hereditary predisposition and its recognition is of great importance for genetic counseling and cancer risk management.

The present study, we screened 100 non-cancer individuals and 100 incident breast cancer cases for the distribution of CHEK2 1100delc mutation.

We used allele specific PCR in order to detect the mutation.

All cases were compared with controls.

Our data may indicate that 1100delc I157T mutation within CHEK2 gene was absent in BC patients and an elevated risk for genetic susceptibility for BC among Palestinian population are not associated with CHEK2 1100delc