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  1. Cancer risk in mutation carriers of DNA-mismatch-repair genes.

    Article - En anglais

    Excessive incidence of various cancers is a challenging feature of the hereditary-non-polyposis-colorectal-cancer (HNPCC) syndrome.

    This study estimated the cancer incidences in HNPCC compared with the general population.

    Individuals in a cohort of 1763 members of 50 genetically diagnosed families were categorized according to their genetic status as mutation carriers, non-carriers, or individuals at 50 or 25% risk of being a carrier.

    Incidences of cancers in these groups were compared with those in the Finnish population overall.

    In 360 mutation carriers, standardized incidence ratios (SIR) were significantly increased for colorectal [68 ; 95% confidence intervals (Cl), 56 to 81], endometrial (62 ; 95% CI, 44 to 86), ovarian (13 ; 95% CI, 5.3 to 25), gastric (6.9 ; 95% Cl, 3.6 to 12), biliary tract (9.1 ; 95% CI, I. to 33), uro-epithelial (7.6 ; 95% CI, 2.5 to 18) and kidney (4.7 ; 95% CI, I to 14) cancers and for central-nervous-system tumours (4.5 ; 95% CI, 1.2 to 12).

    The SIR increased with increasing likelihood of being a mutation carrier.

    The cumulative cancer incidences were 82,60,13 and 12% for colorectal, endometrial, gastric and ovarian cancers respectively.

    For other tumours associated with increased risk, corresponding incidences were below 4%. Interestingly, the incidence of endometrial cancer (60%) exceeded that for colorectal cancer in women (54%). (...)

    Mots-clés Pascal : Tumeur maligne, Côlon, Rectum, Facteur risque, Epidémiologie, Antécédent, Etude familiale, Mutation, Gène, Réparation, Mésappariement base, DNA, Etude cohorte, Finlande, Europe, Homme, Héréditaire, Appareil digestif pathologie, Intestin pathologie, Côlon pathologie, Rectum pathologie, Maladie héréditaire, Génétique, Lynch syndrome, Gène MLH1, Gène MSH2

    Mots-clés Pascal anglais : Malignant tumor, Colon, Rectum, Risk factor, Epidemiology, Antecedent, Family study, Mutation, Gene, Repair, Base mismatching, DNA, Cohort study, Finland, Europe, Human, Hereditary, Digestive diseases, Intestinal disease, Colonic disease, Rectal disease, Genetic disease, Genetics

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

    Cote : 99-0244979

    Code Inist : 002B04B. Création : 16/11/1999.