Assessment of mismatch repair gene sequence variants for clinical relevance [ 2008 - 2010 ]

Research Grant

Researchers: Prof Amanda Spurdle (Principal investigator) ,  A/Pr Joanne Young ,  Prof Melissa Brown

Brief description 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.

Funding Amount $AUD 472,659.77

Funding Scheme NHMRC Project Grants

Notes Standard Project Grant