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CDKN2A

  • Living reference work entry
  • First Online:
Encyclopedia of Cancer

  • 35 Accesses

Synonyms

CDK4I; CDKN2; CMM2; Cyclin-dependent kinase inhibitor 2A; INK4A; MTS1; p16; p16INK4 ; p16INK4A ; p16INK4a

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).

Fig. 1
figure 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

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  • 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

    Article  CAS  PubMed  Google Scholar 

  • Hayward NK (2003) Genetics of melanoma predisposition. Oncogene 22(20):3053–3056

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  • Sharpless NE (2005) INK4a/ARF: a multifunctional tumor suppressor locus. Mutat Res 576(1–2):22–38

    Article  CAS  PubMed  Google Scholar 

  • Sharpless E, Chin L (2003) The INK4a/ARF locus and melanoma. Oncogene 22(20):3092–3098

    Article  CAS  PubMed  Google Scholar 

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Author information

Authors and Affiliations

  1. Section of Epidemiology and Biostatistics, Cancer Research UK Clinical Centre, Leeds Institute of Molecular Medicine, St. James’s University Hospital, Leeds, UK

    Mark Harland

Authors
  1. Mark Harland
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Corresponding author

Correspondence to Mark Harland .

Editor information

Editors and Affiliations

  1. Abt. Tumorgenetik, Deutsches Krebsforschungszentrum, Heidelberg, Germany

    Manfred Schwab

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© 2015 Springer-Verlag Berlin Heidelberg

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Harland, M. (2015). CDKN2A. In: Schwab, M. (eds) Encyclopedia of Cancer. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-27841-9_966-2

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  • DOI: https://doi.org/10.1007/978-3-642-27841-9_966-2

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Online ISBN: 978-3-642-27841-9

  • eBook Packages: Springer Reference Biomedicine and Life SciencesReference Module Biomedical and Life Sciences

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