Assessment of mismatch repair gene sequence variants for clinical relevance

Funding Activity

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Funded Activity Summary

Mutations in mismatch repair genes cause familial cancer. A number of families carry sequence changes that do not obviously alter the gene product, and it is difficult to predict whether these variants are the direct cause of cancer in the family. Consequently, it is not possible to offer informative genetic counselling to these families. We aim to assess the value of several web-based programs, with additional information, to predict the functional changes determined for a panel of variants.

Funded Activity Details

Start Date: 01-01-2008

End Date: 01-01-2010

Funding Scheme: NHMRC Project Grants

Funding Amount: $472,659.00

Funder: National Health and Medical Research Council

Research Topics

ANZSRC Field of Research (FoR)

Sport and exercise nutrition

ANZSRC Socio-Economic Objective (SEO)

There are no SEO codes available for this funding activity

Other Keywords

DNA sequencing | colorectal cancer | familial cancer | gene expression | hereditary non-polyposis colon cancer | inherited cancer | mutations