Investigation of Cancer Predisposition in Heterozygous Carriers of the ATM

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Individuals with the human genetic disorder ataxia-telangiectasia are prone to cancer development and so also are their parents and relatives (carriers) who have one defective copy of the gene. This is a multisystem disease that is also characterized by neurodegeneration, immunodeficiency, infertility and extreme sensitivity to radiation. This project is designed to generate a mouse model of this disease to investigate cancer susceptibility in carriers of the defective gene. The specific mutation to be introduced into the mouse has been described in a patient with breast cancer and it has been shown to interfere with the normal function of the ATM protein. The mouse model is expected to reflect closely the human disease and will provide the opportunity to monitor heterozygous carriers for the development of cancer. This model is expected to confirm the observations in humans and provide a resource to understand susceptibility to develop cancer. The model will also address the issue of exposure to low dose radiation and risk of developing cancer.