Article
Characterization of new founder Alu-mediated rearrangements in MSH2 gene associated with a Lynch syndrome phenotype.
Cancer prevention research (Philadelphia, Pa.) - 1 Oct 2011
Pérez-Cabornero Lucia, Borrás Flores Ester, Infante Sanz Mar, Velasco Sampedro Eladio, Acedo Becares Alberto, Lastra Aras Enrique, Cuevas González Jorge, Pineda Riu Marta, Ramón y Cajal Asensio Teresa, Capellá Munar Gabriel, Miner Pino Cristina, Durán Domínguez Mercedes
Abstract excerpt
It has been reported that large genomic deletions in the MLH1 and MSH2 genes are a frequent cause of Lynch syndrome in certain populations. Here, a cohort has been screened and two new founder rearrangements have been found in the MSH2 gene. These mutations have been characterized by break point determination, haplotype analysis, and genotype-phenotype correlation. Mutations have been identified in the MLH1,...
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