Contribution of ATM mutations to breast cancer susceptibility

We are studying the role of the ATM gene in breast cancer (BC). Mutations in the two major BC susceptibility genes, BRCA1 and BRCA2, account for only 20 to 50% of families at high risk for the disease. ATM is a third candidate for BC susceptibility based on previous epidemiological studies. Although many reports failed to find a link between ATM mutations and BC, studies with new, more sensitive technologies such as DHPLC cast doubt on the negative results. In our previous study of 270 Austrian families with Hereditary Breast and Ovarian Cancer (HBOC), 3.7% had deleterious ATM mutations. However, it was not possible to measure the penetrance of these alleles without further family data. In our current study of 192 Australian families, there is an average of 5 samples per family. Pedigree analysis of these families will allow us to determine if the ATM alleles segregate with BC.

The SGTC1 established a collaboration with kConFab in Australia, the University of Melbourne2 , Australia, the University of Vienna3 , Austria, the University of Kiel4 , Germany, and the Queensland Institute of Medical Research5 , Australia.

This work is funded by the Susan G. Komen Breast Cancer Foundation .