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Molecular Characterization of the Spectrum of Genomic Deletions in the Mismatch Repair Genes MSH2, MLH1, MSH6, and PMS2 Responsible for Hereditary Nonpolyposis Colorectal Cancer (HNPCC)

van der Klift, Heleen; Wijnen, Juul; Wagner, Anja; Verkuilen, Paul; Tops, Carli; Otway, R; Kohonen-Corish, M K; Vasen, Hans; Oliani, Cristina; Barana, Daniela; Moller, Pal; DeLozier-Blanchet, Celia; Hutter, Pierre; Foulkes, William; Lynch, Henry; Burn, John; Moslein, Gabriela; Fodde, Riccardo


A systematic search by Southern blot analysis in a cohort of 439 hereditary nonpolyposis colorectal cancer (HNPCC) families for genomic rearrangements in the main mismatch repair (MMR) genes, namely, MSH2, MLH1, MSH6, and PMS2, identified 48 genomic rearrangements causative of this inherited predisposition to colorectal cancer in 68 unrelated kindreds. Twenty-nine of the 48 rearrangements were found in MSH2, 13 in MLH1, 2 in MSH6, and 4 in PMS2. The vast majority were deletions, although one...[Show more]

CollectionsANU Research Publications
Date published: 2005
Type: Journal article
Source: Genes, Chromosomes and Cancer
DOI: 10.1002/gcc.20219


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