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Content archived on 2024-06-25

Prevention, diagnosis and molecular characterisation of mismatch repair defect-related hereditary cancers of the digestive system

Objective

We focus on hereditary cancers of the digestive system associated with microsatellite instability, hereditary non-polyposis colorectal cancer (HNPCC) and familial gastric cancer (FGC). Microsatellite instability is the result of a defective mismatch repai r (MMR) system. Germline mutations in MMR genes are found in families with HNPCC, characterised by development of colorectal cancer and extracolonic malignancies, particularly cancer of the endometrium. Evidence is accumulating that also a subset of FGC i s MMR-related as families have been identified with tumours showing microsatellite instability. MMR gene mutations have not yet been identified in these families. In HNPCC, identification of MMR gene mutations has helped in identifying individuals at risk when a clear pathogenic mutation was found. Many families, however, in particular those with less penetrant HNPCC, remain genetically unresolved. Furthermore, in a large proportion of families mutations are identified whose pathogenic nature is uncertain (unclassified variants). Although we have made great progress in the genetic delineation of this cancer syndrome, it has hardly improved early diagnosis or treatment of cancer. To improve genetic testing we will (1) determine the role that known MMR genes play in both cancer syndromes and identify new MMR-related genes underlying HNPCC or FGC; (2) set up comprehensive functional assays to determine the role of unclassified variants in MMR related genes; (3) identify tumour cells at very early stages in faec es by enhancing the sensitivity of MSI determination; (4) profile mutations accumulating in tumours as a consequence of MMR deficiency in order to get a better insight in tumour development, which can be instrumental in clinical management/tumour treatment . Our proposal will thus improve genetic testing, improve early detection of polyps/tumours in individuals at risk for these cancer syndromes and improve clinical management of HNPCC and FGC patients.

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Topic(s)

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Call for proposal

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FP6-2004-LIFESCIHEALTH-5
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Funding Scheme

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STREP - Specific Targeted Research Project

Coordinator

UNIVERSITY HOSPITAL GRONINGEN
EU contribution
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Total cost

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Participants (4)

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