Familial Malignant Melanoma - Overview

Hereditary Cancer in Clinical Practice

Tadeusz Dębniak¹ 

[1] International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland

关键词: genetic factors;    familial melanoma;   

Others  :  812508
DOI  :  10.1186/1897-4287-2-3-123

 received in 2004-05-20, accepted in 2004-07-19,  发布年份 2004

【 摘 要 】

Approximately 3-15% of all malignant melanomas (MM) are familial cases. MM is a highly heterogeneous tumour type from a genetic perspective. Pedigrees with disease confined to a single generation of siblings or MM occurring among second- or third-degree relatives suggest multifactorial polygenic inheritance. However, not infrequently, within large families aggregations of MM are consistent with autosomal dominant inheritance, suggesting a hereditary syndrome caused by germline alterations of a single gene. Several different genes are involved in the development of MM. However, even when taken together they are responsible for less than 20% of all MM cases. It is thus necessary to perform association studies focused on genetic markers that could be used in identifying patients with a high risk of MM. Evaluation of aggregations of MM and other malignancies, like breast cancer, could be essential in identifying relatives of MM probands being at high risk of developing malignancies other than MM. The ultimate goal is to apply in these cases prevention recommendations and surveillance protocols to reduce the disease risk.

   

【 图 表 】

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【 参考文献 】

• [1]Marret LD, Nguyen HL, Armstrong BK: Trends in the incidence of cutaneous malignant melanoma in New South Wales, 1983-1996. Int J Cancer 2001, 92(3):457-462.
• [2]Jemal A, Devesa SS, Hartge P, Tucker MA: Recent trends in cutaneous melanoma incidence among whites in the United States. J Natl Cancer Inst 2001, 93(9):678-683.
• [3]Micheli A, Mugno E, Krogh V, Quinn MJ, Coleman M, Hakulinen T, Gatta G, Berrino F, Capocaccia R, EUROPREVAL Working Group: Cancer prevalence in European registry areas. Ann Oncol 2002, 13(6):840-845.
• [4]Armstrong BK, Kricker A: Cutaneous melanoma. Cancer Survey 1994, 19:219-240.
• [5]Weinstock MA: Issues in the epidemiology of melanoma. Hematol Oncol Clin North Am 1998, 12:681-698.
• [6]English DR, Armstrong BK, Kricker A, Fleming C: Sunlight and cancer. Review Cancer Causes Control 1997, 8(3):271-283.
• [7]Armstrong BK, Kricker A: How much melanoma is caused by sun exposure? Melanoma Res 1993, 3:395-401.
• [8]Whiteman DC, Whiteman AC, Green AC: Childhood sun exposure as a risk factor for melanoma: a systematic review of epidemiological studies. Cancer Causes Control 2001, 12:69-82.
• [9]Bataille V: Genetic epidemiology of melanoma. Eur J Cancer 2003, 39:1341-1347.
• [10]Hemminki K, Li X, Plna K, Granstrom C, Vaittinen P: The nation-wide Swedish family-cancer database-updated structure and familial rates. Acta Oncol 2001, 40(6):772-777.
• [11]Goldgar DE, Easton DF, Cannon-Albright LA, Skolnick MH: Systematic population-based assessment of cancer risk in first-degree relatives of cancer probands. J Natl Cancer Inst 1994, 86(21):1600-1608.
• [12]Hemminki K, Zhang H, Czene K: Familial and attributable risks in cutaneous melanoma: effects of proband and age. J Invest Dermat 2002, 120:217-223.
• [13]Swerdlow AJ, De Stavola B, Maconochie N, Siskind V: A population-based study of cancer risk in twins: relationships to birth order and sexes of the twin pair. Int J Cancer 1996, 67(4):472-478.
• [14]Hemminki K, Li X: Cancer risks in twins: results from the Swedish family-cancer database. Int J Cancer 2002, 99(6):873-878.
• [15]Milan T, Verkasalo PK, Kaprio J, Koskenvuo M, Pukkala E: Malignant skin cancers in the Finnish Twin Cohort: a population-based study, 1976-97. Br J Dermatol 2002, 147(3):509-512.
• [16]Czene K, Lichtenstein P, Hemminki K: Environmental and heritable causes of cancer among 9.6 million individuals in the Swedish Family-Cancer Database. Int J Cancer 2002, 99(2):260-266.
• [17]Greene MH, Fraumeni JF: The hereditary variant of familial melanoma. Edited by Clarh WH, Goldman LI, Mastrangelo MJ. Human Malignant Melanoma, Grune and Stratton, New York;
• [18]Holman CD, Armstrong BK: Pigmentary traits, ethnic origin, benign nevi, and family history as risk factors for cutaneous malignant melanoma. J Natl Cancer Inst 1984, 72(2):257-266.
• [19]Cristofolini M, Franceschi S, Tasin L, Zumiani G, Piscioli F, Talamini R, La Vecchia C: Risk factors for cutaneous malignant melanoma in a northern Italian population. Int J Cancer 1987, 39(2):150-154.
• [20]Osterlind A, Tucker MA, Hou-Jensen K, Stone BJ, Engholm G, Jensen OM: The Danish case-control study of cutaneous malignant melanoma. I. Importance of host factors. Int J Cancer 1988, 42(2):200-206.
• [21]de Snoo FA, Bergman W, Gruis NA: Familial melanoma: a complex disorder leading to controversy on DNA testing. Fam Cancer 2003, 2:109-116.
• [22]Tsao H: Update on familial cancer syndromes and the skin. J Am Acad Dermatol 2000, 42:939-971.
• [23]Anderson DE, Smith JL Jr, McBride CM: Hereditary aspects of malignant melanoma. JAMA 1967, 200(9):741-746.
• [24]Lynch HT, Krush AJ: Heredity and malignant melanoma: implications for early cancer detection. Canad Med Assoc J 1968, 99(1):17-21.
• [25]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. New Eng J Med 1995, 33:975-977.
• [26]Parker JF, Florell SR, Alexander A, DiSario JA, Shami PJ, Leachman SA: Pancreatic carcinoma surveillance in patients with familial melanoma. Arch Dermatol 2003, 139(8):1019-1025.
• [27]Borg A, Sandberg T, Nilsson K, Johannsson O, Klinker M, Masback A, Westerdahl J, Olsson H, Ingvar C: High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-positive melanoma families. J Natl Cancer Inst 2000, 92(15):1260-1266.
• [28]Weston B, Grufferman S, Kostvu D, Burton CS, Grant J: Familial aggregation of melanoma, basal cell carcinoma and gastric adenocarcinoma. Cancer 1986, 57:2230-2234.
• [29]Kaufman DK, Kimmel DW, Parisi JE, Michels VV: A familial syndrome with cutaneous malignant melanoma and cerebral astrocytoma. Neurology 1993, 43:1728-1731.
• [30]Wassberg C, Thorn M, Yuen J, Hakulinen T, Ringborg U: Cancer risk in patients with earlier diagnosis of cutaneous melanoma in situ. Int J Cancer 1999, 83:314-317.
• [31]Schmid-Wendter MH, Baumert J, Wendterb CM, Plewig G, Volkenandt M: Risk of second primary malignancies in patients with cutaneous melanoma. Br J Dermatol 2001, 145:981-985.
• [32]Debniak T, Gorski B, Cybulski C, Jakubowska A, Kurzawski G, Kladny J, Zaluga E, Fiedorowicz J, Debniak B, Lubinski J: Increased risk of breast cancer in relatives of malignant melanoma patients from families with strong cancer familial aggregation. Eur J Cancer Prev 2003, 12:241-245.
• [33]Hussussian CJ, Struewing JP, Goldstein AM, Higgins PA, Ally DS, Sheahan MD, Clark WH Jr, Tucker MA, Dracopoli NC: Germline p16 mutations in familial melanoma. Nat Genet 1994, 8:15-21.
• [34]Kamb A, Shattuck-Eidens D, Eeles R, Liu Q, Gruis NA, Ding W, Hussey C, Tran T, Miki Y, Weaver-Feldhaus J, et al.: Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus. Nat Genet 1994, 8:23-26.
• [35]Serrano M, Hannon GJ, Beach D: A new regulatory motif in cell-cycle control causing specific inhibition of cyclin D/CDK4. Nature 1993, 366:704-707.
• [36]Soufir N, Avril MF, Chompret A, Demenais F, Bombled J, Spatz A, Stoppa-Lyonnet D, Benard J, Bressac-de Paillerets B: Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group. Hum Mol Genet 1998, 7:941.
• [37]FitzGerald MG, Harkin DP, Silva-Arrieta S, MacDonald DJ, Lucchina LC, Unsal H, O'Neill E, Koh J, Finkelstein DM, Isselbacher KJ, Sober AJ, Haber DA: Prevalence of germ-line mutations in p16, p19ARF, and CDK4 in familial melanoma: analysis of a clinic-based population. Proc Natl Acad Sci USA 1996, 93:8541-8545.
• [38]Platz A, Hansson J, Ringborg U: Screening of germline mutations in the CDK4, CDKN2C and TP53 genes in familial melanoma: a clinic-based population study. Int J Cancer 1998, 25:13-15.
• [39]Platz A, Hansson J, Mansson-Brahme E, Lagerlof B, Linder S, Lundqvist E, Sevigny P, Inganas M, Ringborg U: Screening of germline mutations in the CDKN2A and CDKN2B genes in Swedish families with hereditary cutaneous melanoma. J Natl Cancer Inst 1997, 89:697-702.
• [40]Debniak T, Gorski B, Scott RJ, Cybulski C, Medrek K, Zowocka E, Kurzawski G, Debniak B, Kadny J, Bielecka-Grzela S, Maleszka R, Lubinski J: Germline mutation and large deletion analysis of the CDKN2A and ARF genes in families with multiple melanoma or an aggregation of malignant melanoma and breast cancer. Int J Cancer 2004, 110:558-562.
• [41]Lamperska K, Karezewska A, Kwiatkowska E, Mackiewicz A: Analysis of mutations in the p16/CDKN2A gene in sporadic and familial melanoma in the Polish population. Acta Biochim Pol 2002, 49:369-376.
• [42]Bressac-de-Paillerets B, Avril MF, Chompret A, Demenais F: Genetic and environmental factors in cutaneous malignant melanoma. Biochemie 2002, 84:67-74.
• [43]Whiteman DC, Miligan A, Welch J, Green AC, Hayward NK: Germline CDKN2A mutations in childhood melanoma. J Natl Cancer Inst 1997, 89:1460-1465.
• [44]Vasen HF, Gruis NA, Frants RR, Velden PA, Hille ET, Bergman W: Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden). Int J Cancer 2000, 87:809-811.
• [45]Goldstein AM, Fraser MC, Struewing JP, Hussussian CJ, Ranade K, Zametkin DP, Fontaine LS, Organic SM, Dracopoli NC, Clark WH Jr, et al.: Increased risk of pancreatic cancer in melanoma-prone families with p16INK4 mutations. New Engl J Med 1995, 333:970-974.
• [46]Borg A, Sandberg T, Nilsson K, Johannsson O, Klinker M, Masback A, Westerdahl J, Olsson H, Ingvar C: High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-positive melanoma families. J Natl Cancer Inst 2000, 92:1260-1266.
• [47]Bishop DT, Demenais F, Goldstein AM, Bergman W, Bishop JN, Bressac-de Paillerets B, Chompret A, Ghiorzo P, Gruis N, Hansson J, Harland M, Hayward N, Holland EA, Mann GJ, Mantelli M, Nancarrow D, Platz A, Tucker MA, Melanoma Genetics Consortium: Geographical variation in the penetrance of CDKN2A mutations for melanoma. J Natl Cancer Inst 2002, 94:894-903.
• [48]Duro D, Bernard O, Della Valle V, Berger R, Larsen CJ: A new type of p16INK4/MTS1 gene transcript expressed in B-cell malignancies. Oncogene 1995, 11:21-29.
• [49]Stone S, Jiang P, Dayananth P, Tavtigian SV, Katcher H, Parry D, Peters G, Kamb A: Complex structure and regulation of the P16 (MTS1) locus. Cancer Res 1995, 55:2988-2994.
• [50]Eymin B, Karayan L, Seite P, Brambilla C, Brambilla E, Larsen CJ, Gazzeri S: Human ARF binds E2F1 and inhibits its transcriptional activity. Oncogene 2001, 20:1033-1041.
• [51]Randerson-Moor JA, Harland M, Williams S, Cuthbert-Heavens D, Sheridan E, Aveyard J, Sibley K, Whitaker L, Knowles M, Bishop JN, Bishop DT: A germline deletion of p14 (ARF) but not CDKN2A in a melanoma-neural system tumour syndrome family. Hum Mol Genet 2001, 10:55-62.
• [52]Hewitt C, Lee Wu C, Evans G, Howell A, Elles RG, Jordan R, Sloan P, Read AP, Thakker N: Germline mutation of ARF in a melanoma kindred. Hum Mol Genet 2002, 11:1273-1279.
• [53]Zuo L, Weger J, Yang Q, Goldstein AM, Tucker MA, Walker GJ, Hayward N, Dracopoli NC: Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma. Nat Genet 1996, 12:97-9.
• [54]Goldstein AM, Chidambaram A, Halpern A, Holly EA, Guerry D IV, Sagebiel R, Elder DE, Tucker MA: Rarity of CDK4 germline mutations in familial melanoma. Melanoma Res 2002, 12:51-55.
• [55]The Breast Cancer Linkage Consortium: Cancer risks in BRCA2 mutation carriers. The Breast Cancer Linkage Consortium. J Natl Cancer Inst 1999, 91:1310-1316.
• [56]Scott RJ, Vajdic CM, Armstrong BK, Ainsworth CJ, Meldrum CJ, Aitken JF, Kricker A: BRCA2 mutations in a population-based series of patients with ocular melanoma. Int J Cancer 2002, 102:188-191.
• [57]Johannsson O, Loman N, Moller T, Kristoffersson U, Borg A, Olsson H: Incidence of malignant tumours in relatives of BRCA1 and BRCA2 germline mutation carriers. Eur J Cancer 1999, 35:1248-1257.
• [58]Varon R, Vissinga C, Platzer M, Cerosaletti KM, Chrzanowska KH, Saar K, Beckmann G, Seemanova E, Cooper PR, Nowak NJ, Stumm M, Weemaes CM, Gatti RA, Wilson RK, Digweed M, Rosenthal A, Sperling K, Concannon P, Reis A: Nibrin a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell 1998, 93:467-476.
• [59]Carney JP, Maser RS, Olivares H, Davis EM, Le Beau M, Yates JR, Hays L, Morgan WF, Petrini JH: The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response. Cell 1998, 93:477-486.
• [60]Debniak T, Gorski B, Cybulski C, Jakubowska A, Kurzawski G, Lener M, Mierzejewski M, Masojc B, Medrek K, Kladny J, Zaluga E, Maleszka R, Chosia M, Lubinski J: Germline 657del5 mutation in the NBS1 gene in patients with malignant melanoma of the skin. Melanoma Res 2003, 13:365-370.
• [61]Blasina A, de Weyer IV, Laus MC, Luyten WH, Parker AE, McGowan CH: A human homologue of the checkpoint kinase Cds1 directly inhibits Cdc25 phosphatase. Curr Biol 1999, 14:1-10.
• [62]Chaturvedi P, Eng WK, Zhu Y, Mattern MR, Mishra R, Hurle MR, Zhang X, Annan RS, Lu Q, Faucette LF, Scott GF, Li X, Carr SA, Johnson RK, Winkler JD, Zhou BB: Mammalian Chk2 is a downstream effector of the ATM-dependent DNA damage checkpoint pathway. Oncogene 1999, 18:4047-4054.
• [63]Vahteristo P, Tamminen A, Karvinen P, Eerola H, Eklund C, Aaltonen LA, Blomqvist C, Aittomaki K, Nevanlinna H: p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition. Cancer Res 2001, 61:5718-5722.
• [64]Debniak T, Gorski B, Cybulski C, Kurzawski G, Zlowocka E, Kladny J, Chosia M, Lubinski J: Rarity of germline 1100delC mutation in CHK2 in patients with malignant melanoma of the skin. Melanoma Res 2004, 14:121-124.
• [65]Castiglia D, Pagani E, Alvino E, Vernole P, Marra G, Cannavo E, Jiricny J, Zambruno G, D'Atri S: Biallelic somatic inactivation of the mismatch repair gene MLH1 in a primary skin melanoma. Genes Chromosomes Cancer 2003, 37:165-175.
• [66]Baccarelli A, Calista D, Minghetti P, Marinelli B, Albetti B, Tseng T, Hedayati M, Grossman L, Landi G, Struewing JP, Landi MT: XPD gene polymorphism and host characteristics in the association with cutaneous malignant melanoma risk. Br J Cancer 2004, 90:497-502.
• [67]Tomescu D, Kavanagh G, Ha T, Campbell H, Melton DW: Nucleotide excision repair gene XPD polymorphisms and genetic predisposition to melanoma. Carcinogenesis 2001, 22:403-408.
• [68]Valverde P, Healy E, Jackson I, Rees JL, Thody AJ: Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans. Nat Genet 1995, 11:328-330.
• [69]Palmer JS, Duffy DL, Box NF, Aitken JF, O'Gorman LE, Green AC, Hayward NK, Martin NG, Sturm RA: Melanocortin-1 receptor polymorphisms and risk of melanoma: is the association explained solely by pigmentation phenotype? Am J Hum Genet 2000, 66:176-186.
• [70]Box NF, Wyeth JR, O'Gorman LE, Martin NG, Sturm RA: Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair. Hum Mol Genet 1997, 6:1891-1897.
• [71]Box NF, Duffy DL, Chen W, Stark M, Martin NG, Sturm RA, Hayward NK: MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations. Am J Hum Genet 2001, 69:765-773.
• [72]Velden PA, Sandkuijl LA, Bergman W, Pavel S, van Mourik L, Frants RR, Gruis NA: Melanocortin-1 receptor variant R151C modifies melanoma risk in Dutch families with melanoma. Am J Hum Genet 2001, 69:774-779.
• [73]Bataille V, Bishop JA, Sasieni P, Swerdlow AJ, Pinney E, Griffiths K, Cuzick J: Risk of cutaneous melanoma in relation to the numbers, types and sites of naevi: a case-control study. Br J Cancer 1996, 73(12):1605-1611.
• [74]Briollais L, Chompret A, Guilloud-Bataille M, Feingold N, Avril MF, Demenais F: Genetic and epidemiological risk factors for a malignant melanoma-predisposing phenotype: the great number of nevi. Genet Epidemiol 1996, 13(4):385-402.
• [75]Wachsmuth RC, Harland M, Bishop JA: The atypical-mole syndrome and predisposition to melanoma. N Engl J Med 1998, 339(5):348-349.
• [76]Bataille V, Snieder H, MacGregor AJ, Sasieni P, Spector TD: Genetics of risk factors for melanoma: an adult twin study of nevi and freckles. J Natl Cancer Inst 2000, 92(6):457-463.
• [77]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(23):1726-1733.
• [78]Grange F, Chompret A, Guilloud-Bataille M, Guillaume JC, Margulis A, Prade M, Demenais F, Avril MF: Comparison between familial and nonfamilial melanoma in France. Arch Dermatol 1995, 131(10):1154-1159.