Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments

Large genomic deletions within the mismatch repair MLH1 and MSH2 genes have been identified in families with the hereditary nonpolyposis colorectal cancer (HNPCC) syndrome, and their detection represents a technical problem. To facilitate their detection, we developed a simple semiquantitative proce...

Full description

Saved in:
Bibliographic Details
Published in:Cancer research (Chicago, Ill.) Ill.), 2000-06, Vol.60 (11), p.2760-2763
Main Authors: CHARBONNIER, F, RAUX, G, QING WANG, DROUOT, N, CORDIER, F, LIMACHER, J.-M, SAURIN, J.-C, PUISIEUX, A, OLSCHWANG, S, FREBOURG, T
Format: Article
Language:English
Subjects:
Adaptor Proteins, Signal Transducing
Base Pair Mismatch - genetics
Biological and medical sciences
Carrier Proteins
Colorectal Neoplasms, Hereditary Nonpolyposis - genetics
DNA Repair - genetics
DNA-Binding Proteins
Exons
Family Health
Gastroenterology. Liver. Pancreas. Abdomen
Gene Deletion
Gene Duplication
Humans
Introns
Medical sciences
MLH1 gene
Models, Genetic
MSH2 gene
MutL Protein Homolog 1
MutS Homolog 2 Protein
Neoplasm Proteins - genetics
Nuclear Proteins
Polymerase Chain Reaction - methods
Proto-Oncogene Proteins - genetics
Stomach. Duodenum. Small intestine. Colon. Rectum. Anus
Tumors
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Large genomic deletions within the mismatch repair MLH1 and MSH2 genes have been identified in families with the hereditary nonpolyposis colorectal cancer (HNPCC) syndrome, and their detection represents a technical problem. To facilitate their detection, we developed a simple semiquantitative procedure based on the multiplex PCR of short fluorescent fragments. This method allowed us to confirm in HNPCC families three known deletions of MLH1 or MSH2 and to detect in 19 HNPCC families, in which analysis of mismatch repair genes using classical methods had revealed no alteration, a deletion of exon 5 and a duplication of MSH2 involving exons 9 and 10. The presence of such duplications, the frequency of which is probably underestimated, must be considered in HNPCC families in which conventional screening methods have failed to detect mutations.
ISSN:0008-5472