Objective
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.
Fields of science (EuroSciVoc)
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: The European Science Vocabulary.
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: The European Science Vocabulary.
- humanities history and archaeology history
- natural sciences biological sciences genetics DNA
- medical and health sciences clinical medicine oncology colorectal cancer
- natural sciences biological sciences genetics mutation
You need to log in or register to use this function
We are sorry... an unexpected error occurred during execution.
You need to be authenticated. Your session might have expired.
Thank you for your feedback. You will soon receive an email to confirm the submission. If you have selected to be notified about the reporting status, you will also be contacted when the reporting status will change.
Programme(s)
Multi-annual funding programmes that define the EU’s priorities for research and innovation.
Multi-annual funding programmes that define the EU’s priorities for research and innovation.
Topic(s)
Calls for proposals are divided into topics. A topic defines a specific subject or area for which applicants can submit proposals. The description of a topic comprises its specific scope and the expected impact of the funded project.
Calls for proposals are divided into topics. A topic defines a specific subject or area for which applicants can submit proposals. The description of a topic comprises its specific scope and the expected impact of the funded project.
Call for proposal
Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.
Data not available
Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.
Funding Scheme
Funding scheme (or “Type of Action”) inside a programme with common features. It specifies: the scope of what is funded; the reimbursement rate; specific evaluation criteria to qualify for funding; and the use of simplified forms of costs like lump sums.
Funding scheme (or “Type of Action”) inside a programme with common features. It specifies: the scope of what is funded; the reimbursement rate; specific evaluation criteria to qualify for funding; and the use of simplified forms of costs like lump sums.
Coordinator
00014 Helsinki
Finland
The total costs incurred by this organisation to participate in the project, including direct and indirect costs. This amount is a subset of the overall project budget.