Characterization of BRCA2 Mutation in a Series of Functional Assays

摘要

Mutations in the BRCA2 gene account for approximately 20% of all hereditary breast cancer. Many individuals undergo expensive clinical testing for mutations in the BRCA2 gene in order to provide information to their family members about risk of breast cancer. The majority of mutations identified during clinical testing result in truncation of the protein, while approximately 20% are missense mutations. The influence of these missense mutations on BRCA2 function is not known. We proposed to develop a series of functional assays that could determine if particular missense mutations disrupt BRCA2 function% and are disease associated. A series of assays that test the various functions of BRCA2 have now been successfully established and applied to a number of BRCA2 missense mutations. A number of these mutations have now been classified as either disease causing or neutral/benign based in part on these assays.