Intron splice acceptor site polymorphism in the hMSH2 gene in sporadic and familial colorectal cancer

M Palicio; I Blanco; S Tórtola; I González; E Marcuello; J Brunet; F Lluis; J J González-Aguilera; M A Peinado; G Capella

doi:10.1054/bjoc.1999.0959

Intron splice acceptor site polymorphism in the hMSH2 gene in sporadic and familial colorectal cancer

Br J Cancer. 2000 Feb;82(3):535-7. doi: 10.1054/bjoc.1999.0959.

Authors

M Palicio¹, I Blanco, S Tórtola, I González, E Marcuello, J Brunet, F Lluis, J J González-Aguilera, M A Peinado, G Capella

Affiliation

¹ Laboratori d'Investigació Gastrointestinal, Institut de Recerca, Hospital de Sant Pau, Barcelona, Spain.

Abstract

A polymorphism in hMSH2 gene has been associated with an increased susceptibility to develop colorectal cancer (CRC). Here we show that it is a genetic risk factor for CRC in the Spanish population. However, its presence does not apparently affect hMSH2 function.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Aged
Aged, 80 and over
Alternative Splicing*
Base Sequence
Colorectal Neoplasms / genetics*
DNA Primers
DNA-Binding Proteins*
Exons
Humans
Introns*
Middle Aged
MutS Homolog 2 Protein
Polymorphism, Genetic*
Proto-Oncogene Proteins / genetics*

Substances

DNA Primers
DNA-Binding Proteins
Proto-Oncogene Proteins
MSH2 protein, human
MutS Homolog 2 Protein