Mutations in ATM, Radiation Exposure and Breast Cancer Risk Among Black and White Women

In some families, predisposition to breast cancer is inherited as a genetic trait thus far, a few highly penetrant genes responsible for inherited breast cancer have been identified. An important and unresolved question of breast cancer etiology is whether there are other genes which have a more moderate effect on breast cancer risk, possibly involving more women than do other inherited mutations. It has been suggested that mutations in the Ataxia-Telangiectasia gene ATM and cellular damage such as radiation exposure could be involved with breast cancer in this manner. In order to address this question, we screened a population-based series of African-American and Caucasian breast cancer patients and controls as well as a series of patients with particular phenotypes for mutations in the ATM gene. This study was designed to detect potential mutations in the ATM gene which confer breast cancer risk.