Article
Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts.
International journal of cancer - 15 Dec 2007
Bell Daphne W, Kim Sang H, Godwin Andrew K, Schiripo Taryn A, Harris Patricia L, Haserlat Sara M, Wahrer Doke C R, Haiman Christopher A, Daly Mary B, Niendorf Kristin B, Smith Matthew R, Sgroi Dennis C, Garber Judy E, Olopade Olufunmilayo I, Le Marchand Loic, Henderson Brian E, Altshuler David, Haber Daniel A, Freedman Matthew L
Abstract excerpt
The CHEK2-1100delC mutation is recurrent in the population and is a moderate risk factor for breast cancer. To identify additional CHEK2 mutations potentially contributing to breast cancer susceptibility, we sequenced 248 cases with early-onset disease; functionally characterized new variants and conducted a population-based case-control analysis to evaluate their contribution to breast cancer risk. We identified...
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