Article
Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility.
Human molecular genetics - 1 May 2007
Johnson Nichola, Fletcher Olivia, Palles Claire, Rudd Matthew, Webb Emily, Sellick Gabrielle, dos Santos Silva Isabel, McCormack Valerie, Gibson Lorna, Fraser Agnes, Leonard Angela, Gilham Clare, Tavtigian Sean V, Ashworth Alan, Houlston Richard, Peto Julian
Abstract excerpt
Rare inactivating mutations in BRCA1, BRCA2, ATM, TP53 and CHEK2 confer relative risks for breast cancer between about 2 and more than 10, but more common variants in these genes are generally considered of little or no clinical significance. Under the polygenic model for breast cancer carriers of multiple low-penetrance alleles are at high risk, but few such alleles have been reliably identified. We analysed...
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