Article
ATM germline mutations in Spanish early-onset breast cancer patients negative for BRCA1/BRCA2 mutations.
Clinical genetics - 1 May 2008
Brunet J, Gutiérrez-Enríquez S, Torres A, Bérez V, Sanjosé S, Galceran J, Izquierdo A, Menéndez J A, Gumà J, Borràs J
Abstract excerpt
Heterozygous carriers of ATM (ataxia telangiectasia mutated gene) mutations have increased risk of breast cancer (BC). We have estimated the prevalence of mutations in the ATM gene among Spanish patients with early-onset BC. Forty-three patients diagnosed with BC before the age of 46 years, and negative for BRCA1 and BRCA2 mutations, were analysed for the presence of ATM mutations. A total of 34 ATM sequence...
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