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Content archived on 2024-06-18

Functional DNA mismatch repair assay on normal tissue for the detection of hereditary cancer predisposition

Objective

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).

Fields of science (EuroSciVoc)

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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.

Call for proposal

Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.

ERC-2012-PoC
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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.

CSA-SA(POC) - Supporting action (Proof of Concept)

Host institution

HELSINGIN YLIOPISTO
EU contribution
€ 150 000,00
Address
FABIANINKATU 33
00014 HELSINGIN YLIOPISTO
Finland

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Activity type
Higher or Secondary Education Establishments
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Total cost

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.

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Beneficiaries (1)

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