Genetics of cutaneous melanoma and nevi

Mayo Clinic Proceedings

Volumn 72, Issue 5, 1997, Pages 467-474

  Greene, Mark H ^a  

^a MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CASE CONTROL STUDY; CHROMOSOME 1; CHROMOSOME 12; CHROMOSOME 9; DYSPLASTIC NEVUS; GENETIC PREDISPOSITION; GENETICS; HUMAN; MELANOMA; MUTATION; NEVUS; PRECANCER; REVIEW; SKIN TUMOR; AUTOSOMAL DOMINANT INHERITANCE; CANCER RISK; CHROMOSOME 9P; CONFERENCE PAPER; GENE MUTATION; GENETIC RISK; MALIGNANT TRANSFORMATION; RISK FACTOR; SKIN CARCINOGENESIS;

CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 12; CHROMOSOMES, HUMAN, PAIR 9; DYSPLASTIC NEVUS SYNDROME; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; MELANOMA; NEVUS; PRECANCEROUS CONDITIONS; SKIN NEOPLASMS;

EID: 0030609949     PISSN: 00256196     EISSN: None     Source Type: Journal    
DOI: 10.4065/72.5.467     Document Type: Article

References (75)

1. Norris W. Case of fungoid disease. Edinburgh Med Surg J 1820; 16:562-565
2. CawleyEP. Genetic aspects of malignant melanoma. ArchDermatol Syph 1952; 65:440-450
3. Greene MH, Fraumeni JF Jr. The hereditary variant of malignant melanoma. In: Clark WH Jr, Goldman LI, Mastrangelo MJ, editors. Human Malignant Melanoma. New York: Grune & Stratton, 1979: 139-166
4. Greene MH, Clark WH Jr, Tucker MA, Kraemer KH, Elder DE, Fraser MC. High risk of malignant melanoma in melanoma-prone families with dysplastic nevi. Ann Intern Med 1985; 102:458465
5. Greene MH, Clark WH Jr, Tucker MA, Elder DE, Kraemer KH, Guerry D IV, et al. Acquired precursors of cutaneous malignant melanoma: the familial dysplastic nevus syndrome. N Engl J Med 1985:312:91-97
6. Greene MH, Goldin LR, Clark WH Jr, Lovrien E, Kraemer KH, Tucker MA, et al. Familial cutaneous malignant melanoma: autosomal dominant trait possibly linked to the Rh locus. Proc Natl Acad Sci U S A 1983:80:6071-6075
7. Lynch HT, Fusaro RM, Kimberling WJ, Lynch JF, Danes BS. Familial atypical multiple mole-melanoma (FAMMM) syndrome: segregation analysis. J Med Genet 1983; 20:342-344
8. Bale SJ, Chakravarti A, Greene MH. Cutaneous malignant melanoma and familial dysplastic nevi: evidence for autosomal dominance and pleiotropy. Am J Hum Genet 1986; 38:188-196
9. Risch N, Sherman S. Genetic Analysis Workshop 7: summary of the melanoma workshop. Cytogenet Cell Genet 1992:59:148-158
10. Bale SJ, Dracopoli NC. Tucker MA, Clark WH Jr. Fraser MC. Stanger BZ. et al. Mapping the gene for hereditary cutaneous malignant melanoma-dysplastic nevus to chromosome 1p. N Engl J Med 1989:320:1367-1372
11. Goldstein AM. Dracopoli NC, Ho EC, Fräser MC, Kearns KS, Bale SJ. et al. 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 1993; 52:537-550
12. Tucker MA, Fraser MC, Goldstein AM, Elder DE. Guerry D IV, Organic SM. Risk of melanoma and other cancers in melanomaprone families. J Invest Dermatol 1993; 100(Suppl):350S-355S
13. van Haeringen A. Bergman W, Nelen MR, van der Kooij-Meijs E, Hendrikse I, Wijnen JT, et al. Exclusion of the dysplastic nevus syndrome (DNS) locus from the short arm of chromosome 1 by linkage studies in Dutch families. Genomics 1989:5:61-64
14. Cannon-Albright LA, Goldgar DE. Wright EC, Turco A, Jost M. Meyer LJ, et al. Evidence against the reported linkage of the cutaneous melanoma-dysplastic nevus syndrome locus to chromosome 1 p36. Am J Hum Genet 1990; 46:912-918
15. Kefford RF, Salmon J. Shaw HM, Donald JA, McCarthy WH. Hereditary melanoma in Australia: variable association with dysplastic nevi and absence of genetic linkage to chromosome lp. Cancer Genet Cytogenet 1991: 51:45-55
16. Nancarrow DJ, Palmer JM. Walters MK, Kerr BM, Hafner GJ, Garske L, et al. Exclusion of the familial melanoma locus (MLM) from the PND/D1S47 and MYCL1 regions of chromosome arm lp in 7 Australian pedigrees. Genomics 1992:12:18-25
17. Gruis NA, Bergman W. Frants RR. Locus for susceptibility to melanoma on chromosome lp [letter]. N Engl J Med 1990; 322:853854
18. Bergman W, Gruis N A, Sandkuijl LA, Frants RR. Genetics of seven Dutch familial atypical multiple mole-melanoma syndrome families: a review of linkage results including chromosomes 1 and 9. J Invest Dermatol 1994; 103(Suppl 5):122S-125S
19. Cannon-Albright LA, Goldgar DE, Meyer LJ, Lewis CM, Anderson DE, Fountain JW. et al. Assignment of a locus for familial melanoma. MLM, to chromosome 9pl3-p22. Science 1992:258:11481152
20. Cannon-Albright LA, Goldgar DE, Neuhausen S, Gruis NA, Anderson DE, Lewis CM. et al. Localization of the 9p melanoma susceptibility locus (MLM) toa2-cM region between D9S736 and D9S171. Genomics 1994:23:265-268
21. Cannon-Albright LA, Meyer LJ. Goldgar DE, Lewis CM. McWhorter WP, Jost M, et al. Penetrance and expressivity of the chromosome 9p melanoma susceptibility locus (MLM). Cancer Res 1994:54:6041-6044
22. Nancarrow DJ, Mann GJ, Holland EA. Walker GJ, Beaton SC. Walters MK, et al. Confirmation of chromosome 9p linkage in familial melanoma. Am J Hum Genet 1993:53:936-942
23. Gruis NA, Sandkuijl LA, Weber JL, van der Zee A, Borgstein AM, Bergman W. et al. Linkage analysis in Dutch familial atypical multiple mole-melanoma (FAMMM) syndrome families: effect of naevus count. Melanoma Res 1993; 3:271-277
24. MacGeoch C, Bishop JA, Bataille V, Bishop DT, Frischauf AM, Meloni R, et al. Genetic heterogeneity in familial malignant melanoma. Hum Mol Genet 1994:3:2195-2200
25. Kamb A. Gruis NA, Weaver-Feldhaus J, Liu Q, Harshman K. Tavtigian SV, et al. A cell cycle regulator potentially involved in genesis of many tumor types. Science 1994; 264:436-440
26. Hussussian CJ, Struewing JP, Goldstein AM, Higgins PA, Ally DS, Sheahan MD, et al. Germline p!6 mutations in familial melanoma. Nat Genet 1994:8:15-21
27. Ranade K, Hussussian CJ, Sikorski RS, Varmus HE, Goldstein AM, Tucker MA, et al. Mutations associated with familial melanoma impair p 16INK4 function. Nat Genet 1995; 10:114-116
28. Kamb A, Shattuck-Eidens D, Eeles R, Liu Q, Gruis NA, Ding W, et al. Analysis of the p 16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus. Nat Genet 1994; 8:22-26
29. Greene MH, Tucker MA, Clark WH Jr. Kraemer KH. Elder DE. Fraser MC. Hereditary melanoma and the dysplastic nevus syndrome: the risk of cancers other than melanoma. J Am Acad Dermatol 1987: 16:792-797
30. Lynch HT. Fusaro RM. Pester J, Oosterhuis JA, Went LN, Rumke P, et al. Tumour spectrum in the FAMMM syndrome. Br J Cancer 1981:44:553-560
31. Bergman W. Watson P. de Jong J, Lynch HT, Fusaro RM. Systemic cancer and the FAMMM syndrome. Br J Cancer 1990; 61:932936
32. Goldstein AM, Fräser MC, Struewing JP, Hussussian CJ, Ranade K, Zametkin DP, et al. Increased risk of pancreatic cancer in melanoma-prone kindreds with p!6INK4 mutations. N Engl J Med 1995:333:970-974
33. Whelan AJ, Bartsch D. Goodfellow PJ. Brief report: a familial syndrome of pancreatic cancer and melanoma with a mutation in the CDKN2 tumor-suppressor gene. N Engl J Med 1995; 333:975977
34. Zuo L, Weger J. Yang Q, Goldstein AM, Tucker MA, Walker GJ, et al. Germline mutations in the pl6INK4a binding domain of CDK4 in familial melanoma. Nat Genet 1996; 12:97-99
35. Bale SJ. Greene MH, Murray C, Goldin LR, Johnson AH, Mann D. Hereditary malignant melanoma is not linked to the HLA complex on chromosome 6. Int J Cancer 1985; 36:439-443
36. Walker GJ. Nancarrow DJ. Walters MK, Palmer JM. Weber JL, Hayward NK. Linkage analysis in familial melanoma kindreds to markers on chromosome 6p. Int J Cancer 1994; 59:771-775
37. Albino AP. Genes involved in melanoma susceptibility and progression. Curr Opin Oncol 1995:7:162-169
38. Easton DF. Cox GM, Macdonald AM, Ponder BA. Genetic susceptibility to naevi-a twin study. BrJ Cancer 1991:64:1164-1167
39. Goldgar DE. Cannon-Albright LA, Meyer LJ, Piepkorn MW, Zone JJ. Skolnick MH. Inheritance of nevus number and size in melanoma and dysplastic nevus syndrome kindreds. J Natl Cancer Inst 1991; 83:1726-1733
40. Newton Bishop JA, Bataille V, Pinney E. Bishop DT. Family studies in melanoma: identification of the atypical mole syndrome (AMS) phenotype. Melanoma Res 1994:4:199-206
41. de Wit PE. van't Hof-Grootenboer B, Ruiter DJ, Bondi R, Brocker EB, Cesarini JP, et al. Validity of the histopathological criteria used for diagnosing dysplastic naevi: an interobserver study by the pathology subgroup of the EORTC Malignant Melanoma Cooperative Group. EurJ Cancer 1993: 29A:831-839
42. Crutcher WA. Sagebiel RW. Prevalence of dysplastic naevi in a community practice [letter]. Lancet 1984; 1:729
43. Tucker MA. Crutcher WA. Hartge P, Sagebiel RW. Familial and cutaneous features of dysplastic nevi: a case-control study. J Am AcadDermatol 1993; 28:558-564
44. Goldstein AM, Tucker MA, Crutcher WA, Hartge P, Sagebiel RW. The inheritance pattern of dysplastic naevi in families of dysplastic naevus patients. Melanoma Res 1993; 3:15-22
45. Crijns MB, Vink J, Van Hees CL, Bergman W, Vermeer BJ. Dysplastic nevi: occurrence in first- and second-degree relatives of patients with 'sporadic' dysplastic nevus syndrome. Arch Dermatol 1991; 127:1346-1351
46. Newton JA, Bataille V, Griffiths K, Squire JM, Sasieni P, Cuzick J, et al. How common is the atypical mole syndrome phenotype in apparently sporadic melanoma? J Am Acad Dermatol 1993; 29:989-996
47. Greene MH. The prevention of cutaneous malignant melanoma: high-risk groups, chemoprevention, education and screening. In: Nathanson L, editor. Current Research and Clinical Management of Melanoma. Boston: Kluwer Academic Publishers, 1993: 104-140
48. Greene MH. Rashomon and the procrustean bed: a tale of dysplastic nevi. J Natl Cancer Inst 1991 ; 83:1720-1724
49. Swerdlow AJ, English J, MacKie RM, O'Doherty CJ, Hunter JA, Clark J. Benign naevi associated with high risk of melanoma [letter]. Lancet 1984; 2:168
50. Nordlund JJ, Kirkwood J, Forget BM, Scheibner A, Albert DM, Lerner E, et al. Demographic study of clinically atypical (dysplastic) nevi in patients with melanoma and comparison subjects. Cancer Res 1985; 45:1855-1861
51. Cristofolini M, Franceschi S, Tasin L, Zumiani G, Piscioli F, Talamini R, et al. Risk factors for cutaneous malignant melanoma in a northern Italian population. Int J Cancer 1987; 39:150-154
52. Holly EA, Kelly JW, Shpall SN, Chiu SH. Number of melanocytic nevi as a major risk factor for malignant melanoma. J Am Acad Dermatol 1987; 17:459-468
53. Swerdlow AJ, English J, MacKie RM, O'Doherty CJ, Hunter JA, Clark J, et al. Benign melanocytic naevi as a risk factor for malignant melanoma. BMJ 1986; 292:1555-1559
54. Kelly JW, Holly EA, Shpall SN, Ahn DK. The distribution of melanocytic naevi in melanoma patients and control subjects. Australas J Dermatol 1989; 30:1 -8
55. Grob JJ, Gouverne! J, Aymar D, Mostaque A, Romano MH, Collet AM, et al. Count of benign melanocytic nevi as a major indicator of risk of nonfamilial nodular and superficial spreading melanoma. Cancer 1990; 66:387-395
56. Halpern AC, Guerry D IV, Elder DE, Clark WH Jr, Synnestvedt M, Norman S, et al. Dysplastic nevi as risk markers of sporadic (nonfamilial) melanoma: a case-control study. Arch Dermatol 1991; 127:995-999
57. Stierner U, Augustsson A, Rosdahll, SuurkulaM. Regional distribution of common and dysplastic naevi in relation to melanoma site and sun exposure: a case-control study. Melanoma Res 1992; 1:367-375
58. Garbe C, Büttner P, Weiss J, Soyer HP, Stocker U, Krüger S, et al. Risk factors for developing cutaneous melanoma and criteria for identifying persons at risk: multicenter case-control study of the central malignant melanoma registry of the German Dermatological Society. J Invest Dermatol 1994; 102:695-699
59. Holly EA, Aston DA, Cress RD, Ahn DK, Kristiansen JJ. Cutaneous melanoma in women. II. Phenotypic characteristics and other host-related factors. Am J Epidemiol 1995; 141:934-942
60. RoushGC, NordlundJJ, Forget B, Gruber SB, KirkwoodJM. Independence of dysplastic nevi from total nevi in determining risk for nonfamilial melanoma. Prev Med 1988; 17:273-279
61. Vasen HFA, Bergman W, Van Haeringen A, Scheffer E, Van Slooten EA. The familial dysplastic nevus syndrome: natural history and the impact of screening on prognosis; a study of nine families in the Netherlands. Eur J Cancer Clin Oncol 1989; 25:337-341
62. Rigel DS, Rivers JK, Kopf AW, Friedman RJ, Vinokur AF, Heilman ER, étal. Dysplastic nevi: markers for increased risk for melanoma. Cancer 1989; 63:386-389
63. Masri GD, Clark WH Jr, Guerry D IV, Halpern A, Thompson CJ, Elder DE. Screening and surveillance of patients at high risk for malignant melanoma result in detection of earlier disease. J Am Acad Dermatol 1990; 22:1042-1048
64. MacKie RM, McHenry P, Hole D. Accelerated detection with prospective surveillance for cutaneous malignant melanoma in high-risk groups. Lancet 1993:341:1618-1620
65. Carey WP Jr, Thompson CJ, Synnestvedt M, Guerry D IV, Halpern A, Schultz D, et al. Dysplastic nevi as a melanoma risk factor in patients with familial melanoma. Cancer 1994; 74:31183125
66. Tiersten AD, Grin CM, Kopf AW, Gottlieb GJ, Bart RS, Rigel DS, et al. Prospective follow-up for malignant melanoma in patients with atypical-mole (dysplastic-nevus) syndrome. J Dermatol Surg Oncol 1991; 17:44-48
67. Halpern AC, Guerry D IV, Elder DE, Trock B, Synnestvedt M. A cohort study of melanoma in patients with dysplastic nevi. J Invest Dermatol 1993; 100(SuppI):346S-349S
68. Kang S, Barnhill RL, Mihm MC Jr, Fitzpatrick TB, Sober AJ. Melanoma risk in individuals with clinically atypical nevi. Arch Dermatol 1994; 130:999-1001
69. Marghoob AA, Kopf AW, Rigel DS, Bart RS, Friedman RJ, Yadav S, et al. Risk of cutaneous malignant melanoma in patients with 'classic' atypical-mole syndrome: a case-control study. Arch Dermatol 1994; 130:993-998
70. Schneider JS, Moore DH II, Sagebiel RW. Risk factors for melanoma incidence in prospective follow-up: the importance of atypical (dysplastic) nevi. Arch Dermatol 1994; 130:1002-1007
71. Slade J, Marghoob AA, Salopek TG, Rigel DS, Kopf AW, Bart RS. Atypical mole syndrome: risk factor for cutaneous malignant melanoma and implications for management. J Am Acad Dermatol 1995; 32:479-494
72. Clark WH. Tumour progression and the nature of cancer. Br J Cancer 1991; 64:631-644
73. NIH Consensus Development Panel on Early Melanoma. Diagnosis and treatment of early melanoma. JAMA 1992; 268:1314-1319
74. Clark WH Jr, Evans HL, Everett MA, Farmer ER, Freeman RG, Graham JH, et al. Early melanoma: histologie terms. Am J Dermatopathol 1991; 13:579-582
75. Weinstock MA. Dysplastic nevi revisited [editorial]. J Am Acad Dermatol 1994; 30:807-810