Definition
Cyclin-dependent kinase inhibitor 2A gene (CDKN2A), the first identified melanoma predisposition gene, encodes the tumor suppressor proteins p16 and ARF.
Characteristics
Identification of CDKN2A
The 9p21-22 chromosomal region was originally implicated in the development of melanomas through a combination of cytogenetic and loss of heterozygosity (LOH) studies. Subsequent linkage analysis in melanoma families indicated that this region harbored a melanoma predisposition locus. Homozygous deletions in cell lines derived from several different tumor types narrowed down the region significantly. This led to the isolation, by two independent groups, of the cell cycle regulatory gene encoding the cyclin-dependent kinase (CDK) inhibitor, p16, which had been previously identified in a yeast two-hybrid screen to identify proteins that bound to CDK4 (Fig. 1).
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References
Bishop JN, Harland M, Randerson-Moor J et al (2007) Management of familial melanoma. Lancet Oncol 8(1):46–54
Goldstein AM, Chan M, Harland M et al (2007) Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents. J Med Genet 44(2):99–106
Hayward NK (2003) Genetics of melanoma predisposition. Oncogene 22(20):3053–3056
Sharpless E, Chin L (2003) The INK4a/ARF locus and melanoma. Oncogene 22(20):3092–3098
Sharpless NE (2005) INK4a/ARF: a multifunctional tumor suppressor locus. Mutat Res 576(1–2):22–38
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© 2011 Springer-Verlag Berlin Heidelberg
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(2011). CDKN2A. In: Schwab, M. (eds) Encyclopedia of Cancer. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-16483-5_966
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DOI: https://doi.org/10.1007/978-3-642-16483-5_966
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Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-642-16482-8
Online ISBN: 978-3-642-16483-5
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