Article
The ATM missense mutation p.Ser49Cys (c.146C>G) and the risk of breast cancer.
Human mutation - 1 Jun 2006
Stredrick Denise L, Garcia-Closas Montserrat, Pineda Marbin A, Bhatti Parveen, Alexander Bruce H, Doody Michele M, Lissowska Jolanta, Peplonska Beata, Brinton Louise A, Chanock Stephen J, Struewing Jeffery P, Sigurdson Alice J
Abstract excerpt
Homozygous mutation in the ATM gene causes ataxia telangiectasia and heterozygous mutation carriers may be at increased risk of breast cancer. We studied a total of 22 ATM variants; 18 variants were analyzed in one of two large population-based studies from the U.S. and Poland, and four variants were analyzed in all 2,856 breast cancer cases and 3,344 controls from the two studies. The missense mutation Ser49Cys...
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