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  1. Mutations predisposing to hereditary nonpolyposis colorectal cancer : Database and results of a Collaborative study.

    Article - En anglais

    Background & Aims 

    Germline mutations in four DNA mismatch repair genes are known to cause susceptibility to hereditary nonpolyposis colorectal cancer (HNPCC).

    The rapidly increasing information about these mutations needs to be collected and appropriately stored to facilitate further studies on the biological and clinical significance of the findings.


    The International Collaborative Group on HNPCC has established a database of DNA mismatch repair gene mutations and polymorphisms.

    In this report, 126 predisposing mutations were analyzed.


    Majority of the mutations affected either the Mut L homologue (MLH) 1 (n=75) or the Mut S homologue (MSH) 2 (n=48) and were quite evenly distributed, with some clustering in MSH2 exon 12 and MLH1 exon 16.

    Most MSH2 mutations consisted of frameshift (60%) or nonsense changes (23%), whereas MLH1 was mainly affected by frameshift (40%) or missense alterations (31%). Although most mutations were unique, a few common recurring mutations were identified.

    Of the families studied (n=202), 82% met the Amsterdam criteria and 15% did not ; the general mutation profile was similar in both groups.


    The construction of mutation profiles will facilitate the development of diagnostic strategies in HNPCC.

    Mots-clés Pascal : Carcinome, Côlon, Rectum, Héréditaire, Prédisposition, Mutation, Base donnée, Communication information, Etiopathogénie, Diagnostic, Article synthèse, Homme, Tumeur maligne, Appareil digestif pathologie, Intestin pathologie, Côlon pathologie, Rectum pathologie, Etude familiale, Déterminisme génétique, Organisation santé

    Mots-clés Pascal anglais : Carcinoma, Colon, Rectum, Hereditary, Predisposition, Mutation, Database, Information communication, Etiopathogenesis, Diagnosis, Review, Human, Malignant tumor, Digestive diseases, Intestinal disease, Colonic disease, Rectal disease, Family study, Genetic inheritance, Public health organization

    Logo du centre Notice produite par :
    Inist-CNRS - Institut de l'Information Scientifique et Technique

    Cote : 97-0516058

    Code Inist : 002B13B01. Création : 13/02/1998.