Article
A protein-truncating mutation in CYP17A1 in three sisters with early-onset breast cancer.
Human mutation - 1 Oct 2005
Hopper John L, Hayes Vanessa M, Spurdle Amanda B, Chenevix-Trench Georgia, Jenkins Mark A, Milne Roger L, Dite Gillian S, Tesoriero Andrea A, McCredie Margaret R E, Giles Graham G, Southey Melissa C
Abstract excerpt
The hormonal etiology of breast cancer is well-established. Many studies have assessed whether polymorphisms in steroid hormone metabolism genes are associated with breast cancer risk. We measured the CYP17A1 -34T>C (c.-34T>C) promoter polymorphism in a population-based study of 1,404 Australian women with breast cancer diagnosed before age 60 years (case probands), 1,903 relatives, and 788 controls....
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