Analysis of ATMgene in Breast Cancer

Ataxia telangiectasia mutated (ATM) is a serin / threonine protein kinase that is recruited andactivated by DNA double strand breaks. It phosphorylates several key proteins that initiateactivation of the DNA damage Check point: Leading to cell cycle arrest, DNA repair oropoptosis. Several of these targets, including P53, CHK2 are tumor suppressors. The ATMgene is located at 11q22.3 and consists of 66 exon, and encode a protein of 3056 aminoacids. Carriers of A allele from ATM gene have an increased risk for breast cancer. wholeblood EDTA Samples collected from Patients, its DNA extracted and allelic polymorphismwere studied in patients and Control groups by PCR-RFLP technique. ATM polymorphism (rs189037) was studied among 60 patients (age rage 30-75 years) and 60 healty Females (agerange 28-79 years).Genotypic frequencies for ATM in Patients were AA=45% , AG=43.33% ,GG= 11.66% and in healthy group were AA= 6.66% , AG= 26.66y., GG= 66.66%. Allelicfrequencies for ATM in patients were A=66.66% , G= 33.33% and in healthy group were A=20% , G= 80%. Results revealed significunt association between ATM polymorphism andincreased risk for breast cancer.

کلیدواژه ها:

polymorphism ، breast cancer ، ATM cancer ، ataxia ، DNA repair