In addition to studies of genetic risk for cancer, our laboratory investigates the mechanism for how normal cells transform into cancer cells. We have collected whole-genome sequences from several patients from our cancer genetics program who have family histories of cancer.
We use those sequences to continuously improve our understanding of genotype-phenotype relationships; the goal is to increase our genome reading comprehension.
We have also generated several knockin mouse alleles of human cancer mutations such as HIP1/PDGFbetaR, BCR/ABL and BRCA1/5382insC and as well knockouts of Hip1, Brca1 and Crebbp. Observation of the effects of these mutations in various combinations in mice is complementary to our analysis of cancer patients and their relatives who may have a genetic susceptibility to cancer.