The I1307K polymorphism of the APC gene in Colorectal cancer.
Background & Aims
Colorectal cancer is one of the most frequent cancers in humans.
Recently, a germline missense mutation, I1307K, was identified in the adenomatous polyposis coli (APC) gene that was suggested to increase cancer predisposition in Ashkenazi Jews.
However, a second study indicated that the 11307K mutation did not contribute greatly to the risk of colon cancer in Ashkenazi breast-ovarian cancer families, and a role of mismatch repair deficiency was suggested.
This study investigated the frequency of the 11307K mutation in several non-Ashkenazi Jewish populations.
We also compared the distribution and frequency of APC mutations from colon tumors that were positive and negative for the 11307K mutation.
Finally, the association between the presence of mutations in the 11307K region and mismatch repair deficiency was studied.
We tested for 11307K in 345 patients who were not Ashkenazi Jews using a heteroduplex screen.
We also performed an extensive mutational analysis in this region of the APC gene on DNA extracted from 240 Italian, Finnish, and Hawaiian-Japanese colon tumors and determined replication error status.
The I1307K mutation was not found among 345 non-Ashkenazis.
Somatic mutations occurred at a lower frequency and were more randomly distributed when the 11307K allele was not present. (...)
Mots-clés Pascal : Carcinome, Côlon, Rectum, Caractère génétique, Prévalence, Polymorphisme, Mutation, Etude comparative, Distribution, Juif, Finlande, Europe, Facteur risque, Homme, Tumeur maligne, Appareil digestif pathologie, Intestin pathologie, Côlon pathologie, Rectum pathologie, Déterminisme génétique, Génétique, Immunopathologie, 1307K APC Gene
Mots-clés Pascal anglais : Carcinoma, Colon, Rectum, Genetic character, Prevalence, Polymorphism, Mutation, Comparative study, Distribution, Jew, Finland, Europe, Risk factor, Human, Malignant tumor, Digestive diseases, Intestinal disease, Colonic disease, Rectal disease, Genetic determinism, Genetics, Immunopathology
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 99-0236224
Code Inist : 002B24O06. Création : 16/11/1999.