ATMheterozygosity and breast cancer: screening of 37 breast cancer patients for ATMmutations using a non-isotopic RNase cleavage-based assay

Based upon the results of several epidemiologic studies, it has been suggested that women who are carriers for a mutation in the ataxia telangiectasia-mutated (ATM) gene are susceptible for the development of breast cancer. Therefore, 37 consecutive breast cancer patients were screened for the presence of a germline ATMmutation using a non-isotopic RNase cleavage-based assay (NIRCA). This paper reports the first use of NIRCA for detection of ATMmutations in breast cancer patients. Using this assay, no ATMmutations were found in our patient population. This result is similar to the findings of other studies that have employed approaches complementary to NIRCA.