DCEG conducts a wide range of studies of the genetic and molecular epidemiology of cancer. Below are some of the major public health advances achieved by investigators in our Division.
Genetic Etiology of Cancer
DCEG has utilized ever-evolving technology to expand knowledge on common inherited genetic variations and the role of germline DNA in cancer susceptibility. Building on its long history of mapping susceptibility genes in cancer-prone families, DCEG investigators were some of the first in the early 2000s to adopt the emerging technology of genome-wide association studies (GWAS), a powerful tool for investigating common inherited variation associated with cancer and other diseases.
Genetic and Environmental Factors Influence APOBEC Mutagenesis in Tumors
Researchers studying the high rates of APOBEC-signature mutations in tumor tissue (generated by APOBEC3 enzymes) identified possible tissue-specific role for environmental triggers of APOBEC mutagenesis, particularly among individuals with germline APOBEC3 risk variants.
Clinical genetics researchers in DCEG have identified genetic mutations responsible for several hereditary cancer syndromes. Examples include the discovery of Li-Fraumeni syndrome and the role of p53 and the contribution of NF2 in neurofibromatosis type 2. These findings have had a significant impact on the clinical management of these and related conditions, as well as informed research on the genetic determinates of cancer in the general population.