Cel Our original ERC project shows that a biological system which corrects errors arising during DNA replication (DNA mismatch repair, MMR) plays a crucial role in cancer avoidance. We aim to conduct a proof of concept of the idea that functional assessment of MMR efficiency can be used to recognize individuals with decreased MMR capacity (i.e. Lynch syndrome). The projected outcome is a diagnostic kit that can be used by health care providers. Individuals whose test result indicates abnormality would be at notable risk to develop cancer. The traditional diagnostic workflow to identify MMR gene (Lynch syndrome) mutation carriers involves several phases (tumor studies, blood tests, in vitro tests for pathogenicity) and proceeds from detecting a defect, typically via biopsy of an already established tumor. In an important distinction, the present protocol consists of only one step, detection of decreased MMR capacity in a constitutional tissue, which can be followed by efforts to identify an underlying genetic or epigenetic defect if one so wishes (but not necessarily). Contrary to traditional tests, the present method allows for the recognition of individuals with increased cancer susceptibility due to deficient MMR even in cases where no family member has, yet, developed cancer, where mutation tests result in no detectable change, and where the underlying change is not genetic but epigenetic (regulatory). Dziedzina nauki natural sciencesbiological sciencesgeneticsDNAnatural sciencesbiological sciencesgeneticsmutationmedical and health sciencesclinical medicineoncologyengineering and technologymedical engineeringmedical laboratory technologylaboratory samples analysisnatural sciencesbiological sciencesgeneticsepigenetics Program(-y) FP7-IDEAS-ERC - Specific programme: "Ideas" implementing the Seventh Framework Programme of the European Community for research, technological development and demonstration activities (2007 to 2013) Temat(-y) ERC-OA-2012-PoC - European Research Council ERC Proof of Concept Zaproszenie do składania wniosków ERC-2012-PoC Zobacz inne projekty w ramach tego zaproszenia System finansowania CSA-SA(POC) - Supporting action (Proof of Concept) Instytucja przyjmująca HELSINGIN YLIOPISTO Wkład UE € 150 000,00 Adres YLIOPISTONKATU 3 00014 Helsingin Yliopisto Finlandia Zobacz na mapie Region Manner-Suomi Helsinki-Uusimaa Helsinki-Uusimaa Rodzaj działalności Higher or Secondary Education Establishments Kontakt administracyjny Tiina Berg (Ms.) Linki Kontakt z organizacją Opens in new window Strona internetowa Opens in new window Koszt całkowity Brak danych Beneficjenci (1) Sortuj alfabetycznie Sortuj według wkładu UE Rozwiń wszystko Zwiń wszystko HELSINGIN YLIOPISTO Finlandia Wkład UE € 150 000,00 Adres YLIOPISTONKATU 3 00014 Helsingin Yliopisto Zobacz na mapie Region Manner-Suomi Helsinki-Uusimaa Helsinki-Uusimaa Rodzaj działalności Higher or Secondary Education Establishments Kontakt administracyjny Tiina Berg (Ms.) Linki Kontakt z organizacją Opens in new window Strona internetowa Opens in new window Koszt całkowity Brak danych
