Article
A guide for functional analysis of BRCA1 variants of uncertain significance.
Human mutation - 1 Nov 2012
Millot Gaël A, Carvalho Marcelo A, Caputo Sandrine M, Vreeswijk Maaike P G, Brown Melissa A, Webb Michelle, Rouleau Etienne, Neuhausen Susan L, Hansen Thomas v O, Galli Alvaro, Brandão Rita D, Blok Marinus J, Velkova Aneliya, Couch Fergus J, Monteiro Alvaro N A
Abstract excerpt
Germline mutations in the tumor suppressor gene BRCA1 confer an estimated lifetime risk of 56-80% for breast cancer and 15-60% for ovarian cancer. Since the mid 1990s when BRCA1 was identified, genetic testing has revealed over 1,500 unique germline variants. However, for a significant number of these variants, the effect on protein function is unknown making it difficult to infer the consequences on risks of...
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