Clinics in Dermatology
Volume 27, Issue 1 , Pages 46-52 , January 2009

Melanoma and genetics

  • Andrew A. Nelson, MD

      Affiliations

    • Department of Dermatology, Harvard Medical School, Boston, MA 02114, USA
    • ,
  • Hensin Tsao, MD, PhD

      Affiliations

    • Department of Dermatology, Harvard Medical School, Boston, MA 02114, USA
    • Wellman Center for Photomedicine, Harvard Medical School, Boston, MA 02114, USA
    • Massachusetts General Hospital Melanoma and Pigmented Lesion Center, Boston, MA 02114, USA
    • Corresponding Author InformationCorresponding author: Tel.: +1 617 724 6082; fax: +1 617 724 2745.

References 

  1. Watson JD, Crick FH. Molecular structure of nucleic acids; a structure for deoxyribose nucleic acid. Nature. 1953;171:737–738
  2. Lander ES, Linton LM, Birren B, et al. Initial sequencing and analysis of the human genome. Nature. 2001;409:860–921
  3. McCarroll SA, Altshuler DM. Copy-number variation and association studies of human disease. Nat Genet. 2007;39(7 Suppl):S37–S42
  4. Clark WH, Reimer RR, Greene M, Ainsworth AM, Mastrangelo MJ. Origin of familial malignant melanomas from heritable melanocytic lesions. ‘The B-K mole syndrome.’. Arch Dermatol. 1978;114:732–738
  5. Lynch HT, Frichot BC, Lynch JF. Familial atypical multiple mole-melanoma syndrome. J Med Genet. 1978;15:352–356
  6. Kamb A, Gruis N, Weaver-Feldhaus J, et al. A cell cycle regulator potentially involved in genesis of many tumor types. Science. 1994;264:436
  7. Nobori T, Miura K, Wu DJ, Lois A, Takabayashi K, Carson DA. Deletions of the cyclin-dependent kinase-4 inhibitor gene in multiple human cancers. Nature. 1994;368:753
  8. Goldstein AM, Chan M, Harland M, et al. Features associated with germline CDKN2a mutations: a GenoMEL study of melanoma-prone families from three continents. J Med Genet. 2007;44:99–106
  9. Berwick M, Orlow I, Hummer AJ, et al. The prevalence of CDKN2A germ-line mutations and relative risk for cutaneous malignant melanoma: an international population-based study. Cancer Epidemiol Biomarkers Prev. 2006;15:1520–1525
  10. Quelle DE, Zindy F, Ashmun RA, Sherr CJ. Alternative reading frames of the INK4a tumor suppressor gene encode two unrelated proteins capable of inducing cell cycle arrest. Cell. 1995;83:993–1000
  11. Sherr CJ. The INK4a/ARF network in tumour suppression. Nat Rev Mol Cell Biol. 2001;2:731–737
  12. Lilischkis R, Sarcevic B, Kennedy C, Warlters A, Sutherland RL. Cancer-associated mis-sense and deletion mutations impair p16INK4 CDK inhibitory activity. Int J Cancer. 1996;66:249–254
  13. Bothner B, Lewis WS, DiGiammarino EL, et al. Defining the molecular basis of Arf and Hdm2 interactions. J Mol Biol. 2001;314:263–277
  14. Serrano M, Lee H, Chin L, Cordon-Cardo C, Beach D, DePinho RA. Role of the INK4a locus in tumor suppression and cell mortality. Cell. 1996;85:27–37
  15. Chin L, Pomerantz J, Polsky D, et al. Cooperative effects of INK4a and ras in melanoma susceptibility in vivo. Genes Dev. 1997;11:2822–2834
  16. Sharpless E, Chin L. The INK4a/ARF locus and melanoma. Oncogene. 2003;22:3092–3098
  17. Bishop DT, Demenais F, Goldstein AM, et al. Geographical variation in the penetrance of CDKN2A mutations for melanoma. J Natl Cancer Inst. 2002;94:894–903
  18. Begg CB, Orlow I, Hummer AJ, et al. Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample. J Natl Cancer Inst. 2005;97:1507–1515
  19. Soufir N, Avril MF, Chompret A, et al. Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group. Hum Mol Genet. 1998;7:209–216
  20. Zuo L, Weger J, Yang Q, et al. Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma. Nat Genet. 1996;12:97–99
  21. Chin L, Garraway LE, Fisher D. Malignant melanoma: genetics and therapeutics in the genomic era. Genes Dev. 2006;20:2149–2182
  22. Rouzaud F, Kadekaro AL, Abdel-Malek ZA, Hearing VJ. MC1R and the response of melanocytes to ultraviolet radiation. Mutat Res. 2005;571:133–152
  23. Valverde P, Healy E, Jackson I, Rees JL, Thody AJ. Variants of the melanocytestimulating hormone receptor gene are associated with red hair and fair skin in humans. Nat Genet. 1995;11:328–330
  24. Raimondi S, Sera F, Gandini S, et al. MC1R variants, melanoma and red hair color phenotype: a meta-analysis. Int J Cancer. 2008;122:2753–2760
  25. Box NF, Duffy DL, Chen W, et al. MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations. Am J Hum Genet. 2001;69:765–773
  26. Kefford R, Bishop JN, Tucker M, et al. Genetic testing for melanoma. Lancet Oncol. 2002;3:653–654
  27. Kefford RF, Newton Bishop JA, Bergman W, Tucker MA. Counseling and DNA testing for individuals perceived to be genetically predisposed to melanoma: A consensus statement of the Melanoma Genetics Consortium. J Clin Oncol. 1999;17:3245–3251

☆ Dr Tsao is supported in part by a agrant from the American Cancer Society and by donations to the Massachusetts General Hospital.

PII: S0738-081X(08)00182-X

doi: 10.1016/j.clindermatol.2008.09.005

Clinics in Dermatology
Volume 27, Issue 1 , Pages 46-52 , January 2009

Article Tools

* Image Usage & Resolution