Objetivo The true incidence of HNPCC can only be determined by direct mutational analysis of unbiased prospective series of individuals. This will be accomplished by acquiring tumour and normal tissue from the great majority of all patients with colorectal carcinoma or adenoma in a 1.25 million subpopulation of Finland and the entire 260,000 population of the Modena district. These specimens will be analyzed for mutations in the known DNA mismatch repair genes; the initial screening of likely HNPCC cases will be by determining microsatellite instability status of the tutors. Germline mutations characteristic of HNPCC are present when normal tissue is heterozygous for the mutation. The number of specimens studied after 2-year prospective collection periods will be approximately 1360 carcinomas and 3400 adenomas. The number of germline mutations found will directly determine the incidence of HNPCC in these populations. To determine the type of mutation and genotype-phenotype correlations members of families already diagnosed with HNPCC will be analyzed. The partners have contacts with a total of 142 such families comprising 440 affected individuals and 1214 individuals over the age of 18 with a 50% genetic risk of being a mutation carrier. In each family the responsible gene mutation will be determined; a convenient test for that mutation designed, and all consenting patients and at-risk individuals counselled, tested, and re-counselled. Once the mutation status of each individual is determined, the natural history of the disease will be re-examined by correlating the mutation status with the penetrance, expressivity, and organ spectrum of involvement. Methods for the counselling and handling of mutation carriers will be designed and tested. Ámbito científico humanitieshistory and archaeologyhistorynatural sciencesbiological sciencesgeneticsDNAmedical and health sciencesclinical medicineoncologycolorectal cancernatural sciencesbiological sciencesgeneticsmutation Programa(s) FP4-BIOMED 2 - Specific research, technological development and demonstration programme in the field of biomedicine and health, 1994-1998 Tema(s) 5.3 - Role of gene and gene products in disease aetiology and pathogenesis Convocatoria de propuestas Data not available Régimen de financiación CSC - Cost-sharing contracts Coordinador N/A Aportación de la UE Sin datos Dirección 3,Haartmaninkatu 00014 Helsinki Finlandia Ver en el mapa Coste total Sin datos Participantes (2) Ordenar alfabéticamente Ordenar por aportación de la UE Ampliar todo Contraer todo KAROLINSKA INSTITUTE Suecia Aportación de la UE Sin datos Dirección Karolinska Hospital 171 76 STOCKHOLM Ver en el mapa Coste total Sin datos UNIVERSITY OF MODENA AND REGGIO EMILIA Italia Aportación de la UE Sin datos Dirección 71,Largo del Pozzo 71 41100 Modena Ver en el mapa Coste total Sin datos