Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing

Background: In hereditary non-polyposis colorectal cancer, over 90% of the identified mutations are in two genes, hMSH2 and hMLH1. A large proportion of the mutations detected in these genes are of the missense type which may be either deleterious mutations or harmless polymorphisms. Aim: To investi...

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Main Authors: Cravo, M, Afonso, A J, Lage, P, Albuquerque, C, Maia, L, Lacerda, C, Fidalgo, P, Chaves, P, Cruz, C, Nobre-Leitão, C
Formato: Artigo
Idioma:Inglês
Publicado: Copyright 2002 by Gut 2002
Assuntos:
Cancer
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1773142/
https://ncbi.nlm.nih.gov/pubmed/11839723
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