Article
A prospective, multicenter, population-based study of BRAF mutational analysis for Lynch syndrome screening.
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association - 1 Feb 2008
Bessa Xavier, Ballesté Belen, Andreu Montserrat, Castells Antoni, Bellosillo Beatriz, Balaguer Francesc, Castellví-Bel Sergi, Paya Artemio, Jover Rodrigo, Alenda Cristina, Titó Llúcia, Martinez-Villacampa Mercedes, Vilella Angels, Xicola Rosa M, Pons Elisenda, Llor Xavier
Abstract excerpt
BACKGROUND & AIMS: Mismatch repair (MMR) deficiencies are the hallmark of tumors arising in Lynch syndrome, however, in approximately 15% of sporadic colorectal cancers (CRC) these deficiencies most often are associated with somatic methylation of the MMR gene MLH1. Recently, an oncogenic mutation in the BRAF gene has been involved in sporadic CRC showing MMR deficiencies as a result of MLH1 promoter methylation....
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