Article
MLH1 promoter hypermethylation in the analytical algorithm of Lynch syndrome: a cost-effectiveness study.
European journal of human genetics : EJHG - 1 Jul 2012
Gausachs Mireia, Mur Pilar, Corral Julieta, Pineda Marta, González Sara, Benito Llúcia, Menéndez Mireia, Espinàs Josep Alfons, Brunet Joan, Iniesta María Dolores, Gruber Stephen B, Lázaro Conxi, Blanco Ignacio, Capellá Gabriel
Abstract excerpt
The analytical algorithm of Lynch syndrome (LS) is increasingly complex. BRAF V600E mutation and MLH1 promoter hypermethylation have been proposed as a screening tool for the identification of LS. The aim of this study was to assess the clinical usefulness and cost-effectiveness of both somatic alterations to improve the yield of the diagnostic algorithm of LS. A total of 122 colorectal tumors from individuals...
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