Novel MLH1 mutations and a novel MSH2 polymorphism identified by SSCP and DHPLC in Portuguese HNPCC families

• Published in: Human mutation Vol. 22; no. 5; pp. 419 - 420
• Main Authors: Isidro, G., Matos, S., Gonçalves, V., Cavaleiro, C., Antunes, O., Marinho, C., Soares, J., Boavida, M.G.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01-11-2003; Hindawi Limited
• Subjects: Adaptor Proteins, Signal Transducing; Adult; Carrier Proteins; Chromatography, High Pressure Liquid; Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis; Colorectal Neoplasms, Hereditary Nonpolyposis - genetics; DNA Mutational Analysis - methods; DNA-Binding Proteins - genetics; HNPCC; Humans; Middle Aged; MLH1; MSH2; Mutation; mutation analysis; MutL Protein Homolog 1; MutS Homolog 2 Protein; Neoplasm Proteins - genetics; Nuclear Proteins; Polymorphism, Genetic; Polymorphism, Single-Stranded Conformational; Portugal; Portuguese; Proto-Oncogene Proteins - genetics; Sequence Analysis, DNA - methods
• ISSN: 1059-7794; 1098-1004
• DOI: 10.1002/humu.9192

Mismatch repair genes MSH2 and MLH1 are the two major genes implicated in hereditary nonpolyposis colorectal cancer. For the past years, we have successfully searched for mutations in both genes in affected Portuguese families, by SSCP and DNA sequencing analysis but because of the advantages that DHPLC offers, we have established conditions in our laboratory to use this new method. While screening for mutations by both methods, in 35 individuals belonging to HNPCC Portuguese families, 4 novel MLH1 mutations (c.307‐1G>C; c.1023delG [p.R341fsX366]; c.2154_2155delCA [p.H718fsX721], c.2154_2155dupCA [p.I719fsX782]), an unclassified variant (c.‐28A>T) and one silent MSH2 polymorphism (c.2766T>C) have been identified. © 2003 Wiley‐Liss, Inc.