Background Genetic disorders that predispose people to colorectal cancer include the polyposis syndromes and hereditary nonpolyposis colorectal cancer.
In contrast to the polyposis syndromes, hereditary nonpolyposis colorectal cancer lacks distinctive clinical features.
However, a germ-line mutation of DNA mismatch-repair genes is a characteristic molecular feature of the disease.
Since clinical screening of carriers of such mutations can help prevent cancer, it is important to devise strategies applicable to molecular screening for this disease.
Methods We prospectively screened tumor specimens obtained from 509 consecutive patients with colorectal adenocarcinomas for DNA replication errors, which are characteristic of hereditary colorectal cancers.
These replication errors were detected through microsatellite-marker analyses of tumor DNA.
DNA from normal tissue from the patients with replication errors was screened for germ-line mutations of the mismatch-repair genes MLH1 and MSH2.
Results Among the 509 patients, 63 (12 percent) had replication errors.
Specimens of normal tissue from 10 of these 63 patients had a germ-line mutation of MLH1 or MSH2.
Of these 10 patients (2 percent of the 509 patients), 9 had a first-degree relative with endometrial or colorectal cancer, 7 were under 50 years of age, and 4 had had colorectal or endometrial cancer previously. (...)
Mots-clés Pascal : Carcinome, Côlon, Rectum, Incidence, Etude familiale, Maladie héréditaire, Marqueur épidémiologique, Prospective, Polypose rectocolique familiale, Facteur risque, Faisabilité, Homme, Tumeur maligne, Appareil digestif pathologie, Intestin pathologie, Côlon pathologie, Rectum pathologie, Activité biologique
Mots-clés Pascal anglais : Carcinoma, Colon, Rectum, Incidence, Family study, Genetic disease, Epidemiological marker, Prospective, Familial adenomatous polyposis coli, Risk factor, Feasibility, Human, Malignant tumor, Digestive diseases, Intestinal disease, Colonic disease, Rectal disease, Biological activity
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 98-0266013
Code Inist : 002B13B01. Création : 11/09/1998.