Article
IVS10-6T>G, an ancient ATM germline mutation linked with breast cancer.
Human mutation - 1 May 2003
Broeks Annegien, Urbanus Jos H M, de Knijff Peter, Devilee Peter, Nicke Marion, Klöpper Karin, Dörk Thilo, Floore Arno N, van't Veer Laura J
Abstract excerpt
Patients with autosomal recessive multisystemic disorder ataxia-telangiectasia are homozygous or compound heterozygous for mutations in the ataxia-telangiectasia mutated (ATM) gene. Heterozygous carriers of an ATM germline mutation have an increased susceptibility for breast cancer. The subject of this study is one particular germline mutation, the ATM exon 11 splice-site mutation IVS10-6T>G, that has been...
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