Chapter 24. Malignant Melanoma

  1. Prof. Dr. Heike Allgayer PhD3,
  2. Prof. Dr. Helga Rehder4 and
  3. Prof. Dr. Simone Fulda5
  1. Carola Berking1 and
  2. Anja Katrin Bosserhoff2

Published Online: 21 AUG 2009

DOI: 10.1002/9783527627523.ch24

Hereditary Tumors: From Genes to Clinical Consequences

Hereditary Tumors: From Genes to Clinical Consequences

How to Cite

Berking, C. and Bosserhoff, A. K. (2008) Malignant Melanoma, in Hereditary Tumors: From Genes to Clinical Consequences (eds H. Allgayer, H. Rehder and S. Fulda), Wiley-VCH Verlag GmbH & Co. KGaA, Weinheim, Germany. doi: 10.1002/9783527627523.ch24

Editor Information

  1. 3

    University of Heidelberg and DKFZ (German Cancer Research Center) Heidelberg, Medical Faculty Mannheim, Chair of Experimental Surgery, Theodor-Kutzer-Ufer 1–3, 68167 Mannheim, Germany

  2. 4

    Medical University Vienna, Department of Medical Genetics, Währinger Strasse 10, 1090 Wien, Austria

  3. 5

    Ulm University Children's Hospital, Eythstrasse 24, 89075 Ulm, Germany

Author Information

  1. 1

    Ludwig-Maximilians-Universität München, Klinik und Poliklinik für Dermatologie und Allergologie, Frauenlobstrasse 9–11, 80337 München, Germany

  2. 2

    University of Regensburg, Institute of Pathology, Molecular Pathology, Franz-Josef-Strauss-Allee 11, 93053 Regensburg, Germany

Publication History

  1. Published Online: 21 AUG 2009
  2. Published Print: 17 DEC 2008

ISBN Information

Print ISBN: 9783527320288

Online ISBN: 9783527627523



  • comparative genomic hybridization;
  • utaneous melanoma;
  • dysplastic nevi;
  • germline mutations;
  • penetrance genes;
  • pigmentation;
  • retinoblastoma;
  • sporadic melanoma;
  • ultraviolet radiation


Familial melanoma represents approximately 10% of all melanomas. In patients with hereditary melanoma, the onset of the disease is at a young age (below 40), and the incidence of multiple melanomas is relatively high (30%). The most commonly mutated gene in familial melanoma is the cdkn2a gene (germline mutations in 30–50%), which encodes for two different proteins, P16INK4a and P14ARF, and is a key regulator of the cell cycle. Another high penetrance gene identified in melanoma is cdk4, which is involved in cell cycle progression. However, cdk4 germline mutations are rare and play a minor role in hereditary melanoma.

Some low penetrance genes have been described in melanoma, including DNA repair genes such as ercc1 or xrcc3, and pigmentation genes such as mc1r. While specific variants of the mc1r gene have been associated with an increased risk for melanoma, conflicting data exist on other potential low penetrance genes regarding their role in the susceptibility to melanoma. Genetic testing of familial melanoma patients is generally not recommended.