Article
Copy number variations are not modifiers of phenotypic expression in a pair of identical twins carrying a BRCA1 mutation.
Breast cancer research and treatment - 1 Oct 2010
Lasa A, Ramón y Cajal T, Llort G, Suela J, Cigudosa J C, Cornet M, Alonso C, Barnadas A, Baiget M
Abstract excerpt
Mutations in BRCA1 and BRCA2 genes confer a high risk of breast and ovarian cancer but the incomplete penetrance of these mutations suggests that other genetic and/or environmental factors may modify this risk. We present a family where all affected members carried a mutation in the BRCA1 gene and the index case had suffered from cancer twice in the last 27 years, whereas her monozygotic twin sister, also a...
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