Article
Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry.
Human mutation - 1 Nov 2006
Bernstein J L, Teraoka S, Southey M C, Jenkins M A, Andrulis I L, Knight J A, John E M, Lapinski R, Wolitzer A L, Whittemore A S, West D, Seminara D, Olson E R, Spurdle A B, Chenevix-Trench G, Giles G G, Hopper J L, Concannon P
Abstract excerpt
The ATM gene variants segregating in ataxia-telangiectasia families are associated with increased breast cancer risk, but the contribution of specific variants has been difficult to estimate. Previous small studies suggested two functional variants, c.7271T>G and c.1066-6T>G (IVS10-6T>G), are associated with increased risk. Using population-based blood samples we found that 7 out of 3,743 breast cancer cases...
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