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Genetic Predisposition to Cancer pp 333–343Cite as

Familial melanoma and its management

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Abstract

Cutaneous malignant melanoma (CMM) is a potentially fatal form of skin cancer whose incidence is rising in many regions of the world [1–4]. Data from the Scottish Melanoma Group showed that in Scotland the incidence of CMM increased 82% over an 11-year period from 3.4 per 100 000 in 1979 to 7.1 per 100 000 in 1989 for men and from 6.6 per 100 000 to 10.4 per 100 000 for women [4]. In Queensland, Australia, which has the highest incidence of cutaneous melanoma in both men and women, the cumulative risks of invasive melanoma have increased to 1 in 19 for men and to 1 in 25 for women. The incidence of CMM increased from 25.3 per 100 000 in 1979–1980 to 55.8 per 100 000 in 1987 for men and from 27.1 per 100 000 to 42.9 per 100 000 in women [1]. In the US, over the period 1973–1990, the incidence of malignant melanoma among whites increased nearly 95%, more than that of any other cancer. The overall age-adjusted incidence rate of invasive melanoma for 1986–1990 was 10.9 per 100 000, 12.1 per 100 000 in whites and 0.8 per 100 000 in blacks. For white men, the overall age-adjusted incidence was 14.1 per 100 000, and for white women, 10.6 per 100 000 [3].

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References

  1. MacLennan, R., Green, A.C., McLeod, G.R.C. and Martin, N.G. (1992) Increasing incidence of cutaneous melanoma in Queensland. Australia. J. Natl Cancer Inst., 84, 1427–32.

    Article  PubMed  CAS  Google Scholar 

  2. Osterlind, A., Hou-Jensen, K. and Moller Jensen, O. (1988) Incidence of cutaneous malignant melanoma in Denmark 1978-1982. Anatomic site distribution, histologic types, and comparison with non-melanoma skin cancer. Br. J. Cancer, 58, 385–91.

    Article  PubMed  CAS  Google Scholar 

  3. Miller, B.A., Gloeckler Ries, L.A., Hankey, B.F. et al. (eds) (1993) Cancer Statistics Review 1973-1990. US Department of Health and Human Services, NIH Publication No. 93-2789.

    Google Scholar 

  4. MacKie, R., Hunter, J.A.A., Aitchison, T.C. et al. (1992) Cutaneous malignant melanoma, Scotland, 1979-89. Lancet, 339, 971–5.

    Article  PubMed  CAS  Google Scholar 

  5. Greene, M.H. and Fraumeni, J.F. Jr (1979) The Hereditary Variant of Malignant Melanoma, Grune and Stratton, New York.

    Google Scholar 

  6. Tucker, M. A. (1988) Individuals at high risk of melanoma. Pigment Cell, 9, 95–109.

    Google Scholar 

  7. Osterlind, A., Tucker, M.A., Stone, B.J. and Jensen, O.M. (1988) The Danish case-control study of cutaneous malignant melanoma II. Importance of UV-light exposure. Int. J. Cancer, 42, 319–24.

    Article  PubMed  CAS  Google Scholar 

  8. Zanetti, R., Franceschi, S., Rosso, S. et al. (1992) Cutaneous melanoma and sunburns in childhood in a Southern European population. Eur. J. Cancer, 28A, 1172–6.

    Article  PubMed  CAS  Google Scholar 

  9. Holly, E.A., Kelly, J.W., Shpall, S.N. and Chiu, S.-H. (1987) Number of melanocytic nevi as a major risk factor for malignant melanoma. J. Am. Acad. Dermatol., 17, 459–68.

    Article  PubMed  CAS  Google Scholar 

  10. Swerdlow, A.J., English, J., MacKie, R.M. et al. (1986) Benign melanocytic naevi as a risk factor for malignant melanoma. Br. Med. J., 292, 1555–9.

    Article  CAS  Google Scholar 

  11. Reimer, R.R., Clark, W.H. Jr, Greene, M.H. et al. (1978) Precursor lesions in familial melanoma: a new genetic preneoplastic syndrome. JAMA, 239, 744–6.

    Article  PubMed  CAS  Google Scholar 

  12. Greene, M.H., Clark, W.H. Jr, Tucker, M.A. et al. (1985) Acquired precursors of cutaneous malignant melanoma: the familial dysplastic nevus syndrome. N. Engl. J. Med., 312, 91–7.

    Article  PubMed  CAS  Google Scholar 

  13. Tucker, M.A., Fraser, M.C., Goldstein, A.M. et al. (1993) The risk of melanoma and other cancers in melanoma-prone families. J. Invest. Dermatol., 100, S350–5.

    Article  Google Scholar 

  14. Halpern, A.C., Guerry, D. IV, Elder, D.E. et al. (1991) Dysplastic nevi as risk markers of sporadic (nonfamilial) melanoma. Arch. Dermatol., 127, 995–9.

    Article  PubMed  CAS  Google Scholar 

  15. Rousch, G.C., Nordlund, J.J., Forget, B., et al. (1988) Independence of dysplastic nevi from total nevi in determining risk for nonfamilial melanoma. Prev. Med., 17, 273–9.

    Article  Google Scholar 

  16. Goldstein, A.M., Fraser, M.C. and Tucker, M.A. (1993) Risk factors for familial melanoma. Am. J. Hum. Genet., 53 (Suppl.), 808.

    Google Scholar 

  17. Elwood, J.M., Whitehead, S.M., Davison, J. et al. (1990) Malignant melanoma in England: risks associated with naevi, freckles, social class, hair colour, and sunburn. Int. J. Epidemiol. 19, 801–10.

    Article  PubMed  CAS  Google Scholar 

  18. Osterlind, A., Tucker, M.A., Hou-Jensen, K. et al. (1988) The Danish case-control study of cutaneous melanoma. I. Importance of host factors. Int. J. Cancer, 42, 200–6.

    Article  PubMed  CAS  Google Scholar 

  19. Barnhill, R.L., Rousch, G.C. and Titus-Ernstoff, L. (1992) Comparison of nonfamilial and familial melanoma. Dermatology, 184, 2–7.

    Article  PubMed  CAS  Google Scholar 

  20. Kopf, A.W., Hellman, L.J., Rogers, G.S. et al. (1986) Familial malignant melanoma. JAMA, 256, 1951–9.

    Article  Google Scholar 

  21. Kefford, R.F., Salmon, J., Shaw, H.M. et al. (1991) Hereditary melanoma in Australia. Variable association with dysplastic nevi and absence of genetic linkage to chromosome 1p. Cancer Genet. Cytogenet., 51, 45–55.

    Article  PubMed  CAS  Google Scholar 

  22. Li, F.P., Fraumeni, J.F.-Jr, Mulvihill, J.J. et al. (1988) A cancer family syndrome in twenty-four kindreds. Cancer Res., 48, 5358–61.

    PubMed  CAS  Google Scholar 

  23. Lynch, H.T., Fusaro, R.M., Kimberling, K.J. et al. (1983) Familial atypical multiple mole melanoma (FAMMM) syndrome: segregation analysis. J. Med. Genet., 20, 342–4.

    Article  PubMed  CAS  Google Scholar 

  24. Bergman, W., Watson, P., deJong, J. et al. (1990) Systemic cancer and the FAMMM syndrome. Br. J. Cancer, 61, 932–6.

    Article  PubMed  CAS  Google Scholar 

  25. Goldstein, A.M., Fraser, M.C., Struewing, J.P. et al. (1995) Increased risk of pancreatic cancer in melanoma-prone kindreds with p16INK4 mutations. N. Engl. J. Med., 333, 970–4.

    Article  PubMed  CAS  Google Scholar 

  26. NIH Consensus Statement: Diagnosis and treatment of early melanoma. NIH Consensus Development Conference, January 27-29, 1992, Vol.10, no. 1.

    Google Scholar 

  27. Clark, W.H. Jr, Elder, D.E., Guerry, D. IV et al. (1989) Model predicting survival in stage I melanoma based on tumor progression. J. Natl Cancer Inst., 81, 1893–904.

    Article  PubMed  Google Scholar 

  28. Tokar, I.P., Fraser, M.C. and Bale, S.J. (1992) Genodermatoses with profound malignant potential. Semin. Oncol. Nursing, 8, 272–80.

    Article  CAS  Google Scholar 

  29. Mackie, R.M., McHenry, P. and Hole, D. (1993) Accelerated detection with prospective surveillance for cutaneous malignant melanoma in high-risk groups. Lancet, 341, 1618–20.

    Article  PubMed  CAS  Google Scholar 

  30. Masri, G.D., Clark, W.H. Jr, Guerry, D. IV et al. (1990) Screening and surveillance of patients at high risk for malignant melanoma result in detection of earlier disease. J. Am. Acad. Dermatol., 22, 1042–8.

    Article  PubMed  CAS  Google Scholar 

  31. Crutcher, W.A. and Cohen, P.J. (1990) Dysplastic nevi and malignant melanoma. Am. Family Physician, 42, 372–85.

    CAS  Google Scholar 

  32. Friedman, R.J., Rigel, D.S., Silverman, M.K. et al. (1991) Malignant melanoma in the 1990’s: the continued importance of early detection and the role of physician and self-examination of the skin. Cancer J. Clin., 41, 201–26.

    Article  CAS  Google Scholar 

  33. Halpern, A.C., Guerry, D. IV, Elder, D.E. et al. (1993) Natural history of dysplastic nevi. J. Am. Acad. Dermatol., 29, 51–7.

    Article  PubMed  CAS  Google Scholar 

  34. Young, J.L., Percy, C.L. and Asire, A.J. (eds) (1981) Surveillance, Epidemiology, and End Results: Incidence and Mortality Data 1973-77. NIH Publication 81-2330, Department of Health and Human Services, Bethesda, MD.

    Google Scholar 

  35. National Cancer Institute. NIH. US Department of Health and Human Services. (1990) What you need to know about dysplastic nevi. NIH Publication No. 91-3133.

    Google Scholar 

  36. Fountain, J.W., Bale, S.J., Housman, D.E. and Dracopoli, N.C. (1990) Genetics of melanoma. Cancer Surv., 9, 645–71.

    PubMed  CAS  Google Scholar 

  37. Bale, S.J., Dracopoli, N.C, Tucker, M.A. et al. (1989) Mapping the gene for hereditary cutaneous malignant melanoma-dysplastic nevus to chromosome 1p. N. Engl. J. Med., 320, 1367–72.

    Article  PubMed  CAS  Google Scholar 

  38. van Haeringen, A., Bergman, W., Nelen, M.R. et al. (1989) Exclusion of the dysplastic nevus syndrome (DNS) locus from the short arm of chromosome 1 by linkage studies in Dutch families. Genomics, 5, 61–4.

    Article  PubMed  Google Scholar 

  39. Cannon-Albright, L.A., Goldgar, D.E., Wright, E.C. et al. (1990) Evidence against the reported linkage of the cutaneous melanoma-dysplastic nevus syndrome locus to chromosome 1p36. Am. J. Hum. Genet., 46, 912–8.

    PubMed  CAS  Google Scholar 

  40. Nancarrow, DJ., Palmer, J.M., Walters, N.K. et al. (1992) Exclusion of the familial melanoma locus (MLM) from the PND/D1S47 and MYCL1 regions of chromosome arm lp in 7 Australian pedigrees. Genomics, 12, 18–25.

    Article  PubMed  CAS  Google Scholar 

  41. Goldstein, A.M., Dracopoli, N.C, Ho, E.C. et al. (1993) Further evidence for a locus for cutaneous malignant melanoma-dysplastic nevus (CMM/DN) on chromosome lp and evidence for genetic heterogeneity. Am. J. Hum. Genet., 52, 537–50.

    PubMed  CAS  Google Scholar 

  42. Hawkins, B.R., Dawkins, R.L., Hockey, A. et al. (1981) Evidence for linkage between HLA and malignant melanoma. Tissue Antigens, 17, 540–1.

    Article  PubMed  CAS  Google Scholar 

  43. Pellegris, G., Illeni, M.T., Rovini, D. et al. (1982) HLA complex and familial malignant melanoma. Int. J. Cancer, 29, 621–3.

    Article  PubMed  CAS  Google Scholar 

  44. Demenais, F., Cesarini, J.P., Daveau, M. et al. (1984) A linkage study between HLA and cutaneous malignant melanoma or precursor lesions or both. J. Med. Genet., 21, 429–35.

    Article  PubMed  CAS  Google Scholar 

  45. Mueller-Eckhardt, G., Schendel, D.J., Hundeiker, M. et al. (1984) Possible association between HLA-DR5 and superficial spreading melanoma (SSM). Int. J. Cancer, 34, 751–5.

    Article  PubMed  CAS  Google Scholar 

  46. Bale, S.J., Greene, M.H., Murray, C. et al. (1985) Hereditary malignant melanoma is not linked to the HLA complex on chromosome 6. Int. J. Cancer, 36, 439–43.

    Article  PubMed  CAS  Google Scholar 

  47. Cowan, J.M., Halaban, R. and Francke, U. (1988) Cytogenetic analysis of melanocytes from premalignant nevi and melanomas. J. Natl Cancer Inst., 80, 1159–64.

    Article  PubMed  CAS  Google Scholar 

  48. Dracopoli, N.C., Alhadeff, B., Houghton, A.N. and Old, L. J. (1987) Loss of heterozygosity at autosomal and X-linked loci during tumor progression in a patient with melanoma. Cancer Res., 47, 3995–4000.

    PubMed  CAS  Google Scholar 

  49. Petty, E.M., Gibson, L.H., Fountain, J.W. et al. (1993) Molecular definition of a chromosome 9p21 germ-line deletion in a woman with multiple melanomas and a plexiform neurofibroma: implications for 9p tumor suppressor gene(s). Am. J. Hum. Genet., 53, 96–104.

    PubMed  CAS  Google Scholar 

  50. Pedersen, M.I. and Wang, N. (1989) Chromosomal evolution in the progression and metastasis of human malignant melanoma. Cancer Genet. Cytogenet., 41, 185–201.

    Article  PubMed  CAS  Google Scholar 

  51. Fountain, J.W., Karayiorgou, M., Ernstoff, M.S. et al. (1992) Homozygous deletions within human chromosome band 9p21 in melanoma. Proc. Natl Acad. Sci. USA, 89, 10557–61.

    Article  PubMed  CAS  Google Scholar 

  52. Cannon-Albright, L.A., Goldgar, D.E., Meyer, L J. et al. (1992) Assignment of a locus for familial melanoma, MLM, to chromosome 9p13-p22. Science, 258, 1148–52.

    Article  PubMed  CAS  Google Scholar 

  53. Nancarrow, D.J., Mann, G.J., Holland, E.A. et al. (1993) Confirmation of chromosome 9p linkage in familial melanoma. Am. J. Hum. Genet., 53, 936–42.

    PubMed  CAS  Google Scholar 

  54. Goldstein, A.M., Dracopoli, N.C., Engelstein, M. et al. (1994) Linkage of cutaneous malignant melanoma/dysplastic nevus (CMM/DN) to chromosome 9p and evidence for genetic heterogeneity. Am. J. Hum. Genet., 54, 489–96.

    PubMed  CAS  Google Scholar 

  55. Serrano, M., Hannon, G.J. and Beach, D. (1993) A new regulatory motif in cell-cycle control causing specific inhibition of cyclin D/ CDK4. Nature, 366, 704–7.

    Article  PubMed  CAS  Google Scholar 

  56. Kamb, A., Gruis, N.A., Weaver-Feldhaus, J. et al. (1994) A cell cycle regulator potentially involved in genesis of many tumor types. Science, 264, 436–40.

    Article  PubMed  CAS  Google Scholar 

  57. Nobori, T., Miura, K., Wu, D.J. et al. (1994) Deletions of the cyclin-dependent kinase-4 inhibitor gene in multiple human cancers. Nature, 368, 753–6.

    Article  PubMed  CAS  Google Scholar 

  58. Hussussian, C.J., Struewing, J.P., Goldstein, A.M. et al. (1994) Germline p16 mutations in familial melanoma. Nature Genet., 8, 15–21.

    Article  PubMed  CAS  Google Scholar 

  59. Kamb, A., Shattuck-Eidens, D., Eeles, R. et al. (1994) Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus. Nature Genet., 8, 22–6.

    Article  CAS  Google Scholar 

  60. MacGeoch, C, Newton Bishop, J.A., Bataille, V. et al. (1994) Genetic heterogeneity in familial malignant melanoma. Hum. Mol. Genet., 3, 2195–200.

    Article  PubMed  CAS  Google Scholar 

  61. Gruis, N.A., van der Velden, P.A., Sandkuijl, L.A., et al. (1995) Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds. Nature Genet., 10, 351–3.

    Article  PubMed  CAS  Google Scholar 

  62. Ohta, M., Nagai, H., Shimizu, M. et al. (1994) Rarity of somatic and germline mutations of the cyclin-dependent kinase 4 inhibitor gene, CDK4I, in melanoma. Cancer Res., 54, 5269–272.

    PubMed  CAS  Google Scholar 

  63. Liu, L., Lassam, N.J., Slingerland, J.M. et al. (1995) Germline p16INK4A mutation and protein dysfunction in a family with inherited melanoma. Oncogene, 11, 405–12.

    PubMed  CAS  Google Scholar 

  64. Walker, G.J., Hussussian, C.J., Flores, J.F. et al. (1995) Mutations of the CDKN2/p16INK4 gene in Australian melanoma kindreds. Hum. Mol. Genet., 4, 1845–52.

    Article  PubMed  CAS  Google Scholar 

  65. Ranadi, K., Hussussian, C.J., Sikorski, R.S. et al. (1995) Mutations associated with familial melanoma impair p16INK4 function. Nature Genet., 10, 114–16.

    Article  Google Scholar 

  66. Millikin, O., Meese, E. and Vogelstein, B. (1991) Loss of heterozygosity for loci on the long arm of chromosome 6 in human malignant melanoma. Cancer Res., 51, 5449–53.

    PubMed  CAS  Google Scholar 

  67. Parmiter, A.H. and Nowell, P.C. (1993) Cytogenetics of melanocytic tumors. J. Invest. Dermatol., 100, S254–8.

    Article  Google Scholar 

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Authors
  1. Alisa M. Goldstein
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  2. Margaret A. Tucker
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Editors and Affiliations

  1. Cancer Genetics and Clinical Oncology, Institute of Cancer Research and Royal Marsden Hospital, Surrey, UK

    Rosalind A. Eeles (Senior Lecturer and Honorary Consultant) (Senior Lecturer and Honorary Consultant)

  2. CRC Human Cancer Genetics Research Group, University of Cambridge, UK

    Bruce A. J. Ponder (Director) (Director)

  3. CRC Genetic Epidemiology Unit, University of Cambridge, UK

    Douglas F. Easton (Director) (Director)

  4. Academic Unit of Radiotherapy and Oncology, Institute of Cancer Research and Royal Marsden Hospital, Surrey, UK

    Alan Horwich (Director of Clinical Research) (Director of Clinical Research)

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Goldstein, A.M., Tucker, M.A. (1996). Familial melanoma and its management. In: Eeles, R.A., Ponder, B.A.J., Easton, D.F., Horwich, A. (eds) Genetic Predisposition to Cancer. Springer, Boston, MA. https://doi.org/10.1007/978-1-4899-4501-3_23

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  • DOI: https://doi.org/10.1007/978-1-4899-4501-3_23

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  • Print ISBN: 978-0-412-56580-9

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