Understanding Drug Resistance in Renal Cell Carcinoma
A grant was awarded for Eleanor Rattenbury, a second-year Ph.D. student in the laboratory of Dr. Eamonn R. Maher, University of Birmingham, England, to study the DNA changes that alter the function of the VHL protein and inhibit its ability to suppress cell growth.
Not all VHL gene DNA changes will cause VHL disease and so if a patient in whom VHL disease is a possibility, but not certain, is found to have a DNA change that has not been detected previously, it is often unclear whether that person has VHL disease (in which case their relatives are at risk and they may develop further tumors) or if it is just a rare but benign DNA variant. In such circumstances it would be very helpful to have a test (or tests) available that would reliably establish whether the change is disease-causing or not.
This project seeks to develop tests that will directly assess the functions of the VHL protein and enable predictions regarding whether the DNA change causes disease or not, and if it is a disease-causing mutation, which tumors are likely to develop. This will not only be of practical benefit for patients undergoing VHL gene testing but will also inform on the relationships between the function of the VHL protein and tumor development.
Better understanding of this relationship will be helpful for developing new therapies for VHL disease.
As printed in the VHL Family Forum 19:4, November 2011. For permission to reprint, please contact VHL Family Alliance, editor@vhl.org. Further information is available from the VHL Family Alliance, info@vhl.org.
