Familial Melanoma Study
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 a specific gene or genes.
In collaboration with GenoMEL (Melanoma Genetics Consortium), an international consortium, DCEG investigators are searching for novel 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.
We continue to accrue and evaluate new families while continuing to evaluate families of individuals with heritable retinoblastoma and melanoma.