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Diseases of DNA Repair pp 134–145Cite as

Familial Cutaneous Melanoma

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Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 685))

Abstract

Approximately 5–10% of all cutaneous melanomas occur in families with hereditary melanoma predisposition. Worldwide, approximately 20–40% of kindreds with familial melanoma harbor germline mutations in the CDKN2A gene, located on chromosome 9p21, which encodes two different proteins, p16INK4 and p14ARF, both involved in regulation of cell cycle progression and induction of senescence. In different populations several recurring CDKN2A founder mutations have been described. The risk of melanoma in CDKN2A mutations carriers varies between populations and is higher in regions with high sun exposure and high incidence of melanoma in the general population. Some CDKN2A mutations have been associated not only with melanoma but also with increased risk of other malignancies—most notably pancreatic carcinoma. A much smaller number of families have germline mutations in the CDK4 gene on chromosome 12q14, encoding a cyclin dependent kinase which normally interacts with p16INK4A. The management of families with hereditary melanoma is dis

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Authors and Affiliations

  1. Department of Oncology-Pathology, Karolinska Institutet, Karolinska University Hospital Solna, S-171 76, Stockholm, Sweden

    Johan Hansson

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  1. Johan Hansson
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  1. School of Science and Technology, Nottingham Trent University, Nottingham, UK

    Shamim I. Ahmad BSc, MSc, PhD

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Hansson, J. (2010). Familial Cutaneous Melanoma. In: Ahmad, S.I. (eds) Diseases of DNA Repair. Advances in Experimental Medicine and Biology, vol 685. Springer, New York, NY. https://doi.org/10.1007/978-1-4419-6448-9_13

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