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Gene for Melanoma - Landmark Studies

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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.

Selected References

Cannon-Albright LA, Goldgar DE, Meyer LJ, Lewis CM, Anderson DE, Fountain JW, Hegi ME, Wiseman RW, Petty EM, Bale AE, Olopade OI, Diaz MO, Kwiatkowski DJ, Piepkorn MW, Zone JJ, Skolnick MH. Assignment of a locus for familial melanoma, MLM, to chromosome 9p13-p22. Science 1992;258:1148-1152.

Serrano M, Hannon GJ, Beach D. A new regulatory motif in cell-cycle control causing specific inhibition of cyclin D/CDK4. Nature 1993;366:704-707.

Hussussian CJ, Struewing JP, Goldstein AM, Higgins PA, Ally DS, Sheahan MD, Clark WH Jr, Tucker MA, Dracopoli NC. Germline p16 mutations in familial melanoma. Nat Genet 1994;8:15-21.

Kamb A, Gruis NA, Weaver-Feldhaus J, Liu Q, Harshman K, Tavtigian SV, Stockert E, Day RS 3rd, Johnson BE, Skolnick MH. A cell cycle regulator potentially involved in genesis of many tumor types. Science 1994 264:436-440.

Kamb A, Shattuck-Eidens D, Eeles R, Liu Q, Gruis NA, Ding W, Hussey C, Tran T, Miki Y, Weaver-Feldhaus J, McClure M, Aitken JF, Anderson DE, Bergman W, Frants R, Goldgar DE, Green A, MacLennan R, Martin NG, Meyer LJ, Youl P, Zone JJ, Skolnick MH, Cannon-Albright LA. Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus. Nat Genet 1994;8:22-26.

Nobori T, Miura K, Wu DJ, Lois A, Takabayashi K, Carson D. Deletions of the cyclin-dependent kinase-4 inhibitor gene in multiple human cancers. Nature 1994;368:753-756.

Bishop DT, Demenais F, Goldstein AM, Bergman W, Newton Bishop J, Bressac-de Paillerets B, Chompret A, Ghiorzo P, Gruis N, Hansson J, Harland M, Hayward N, Holland EA, Mann GJ, Mantelli M, Nancarrow D, Platz A, Tucker MA, The Melanoma Genetics Consortium. Geographical variation in the penetrance of CDKN2A mutations for melanoma. J Natl Cancer Inst 2002;94:894-903.

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