Most genetic epidemiology investigations evaluate the contributions of host susceptibility and environmental exposure in the development of cancer. In family studies, the host susceptibility measure is frequently an alteration in specific gene(s). These studies tend to be very long term with varying activity. 

Although two genes associated with melanoma susceptibility have been identified (CDKN2A and CDK4), alterations in these genes are found in only a small percentage of melanoma-prone families. The search for other genes continues. In collaboration with GenoMEL (Melanoma Genetics Consortium), an international consortium, DCEG investigators are searching for new melanoma susceptibility genes both within families and a genome-wide association study. In a methodologic study, investigators compared CDKN2A mutation detection using denaturing high performance liquid chromatography to usual screening across nine different centers in GenoMEL. They found that mutation detection across the groups was consistent and of high quality. 

Investigators have also conducted an association study of familial melanoma using a candidate gene approach, and analysis is continuing.  They continue to accrue and evaluate new families while continuing to evaluate families of individuals with heritable retinoblastoma and melanoma.  

For more information, contact Margaret Tucker.