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]
|Collections||ANU Research Publications|
|Source:||Genes, Chromosomes and Cancer|
|01_van der Klift_Molecular_Characterization_of_2005.pdf||576.83 kB||Adobe PDF||Request a copy|
Items in Open Research are protected by copyright, with all rights reserved, unless otherwise indicated.