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Gene for Melanoma - Landmark Studies
The contents of this section were published in 2003 as part of SEER's 30th Anniversary celebration.
Identifying major susceptibility genes for cancer is the first step in better understanding the epidemiology and genetics of cancers with hereditary patterns. Registry data can play a critical role in these studies. An example is the identification of CDKN2A, the first major melanoma susceptibility gene to be discovered.
In 1994, the CDKN2A gene was localized to chromosome 9p21, a region that had been implicated previously in familial melanoma in linkage, cytogenetic, and loss of heterozygosity studies. Subsequent mutational analysis in familial melanoma-prone families led to the determination that CDKN2A was a melanoma susceptibility gene. Data used in several of these studies came from the Utah Cancer Registry, a population-based cancer registry that has been in existence since 1966. It is one of the original members of NCI's SEER Program and has continuously participated since 1973.
In addition to contributing to the identification of major susceptibility genes, registry data also can be critical to examining penetrance, modifying genetic and environmental factors, recognizing gene-environment interactions, and determining frequencies of mutations in disease susceptibility genes.
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