Prevalence of ATM gene mutations in young breast cancer patients with a known BRCA1 and BRCA2 status: A population-based study

9566 Background: The role of ATM gene mutations in sporadic young breast cancer (BC) is controversial due to the population selected for the studies or incomplete genetic testing that may overlook relevant missense mutations. One hundred thirty six incident BC patients diagnosed before the age of 46 years were prospectively identified from two Population-based Cancer Registries in Catalonia (Girona and Tarragona) between 1995–1997 and were included in a previous study of BRCA1/BRCA2 mutations prevalence (Int J Cancer 2003;106:588–93). Methods: The aim of present study was to find out the prevalence of ATM gene mutations in the 66 patients from one of the two cancer registries (Tarragona). Of these, 20 patients were not included because: 14 had died, 4 were lost in follow-up and 2 declined consent. Throughout 2002 the remaining 46 patients were newly interviewed for updating the personal and familial history. A specific informed consent was again obtained as required by the local ethics committee. Three pa...