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Management des Melanoms pp 3–11Cite as

Genetik des familiären Melanoms

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Literatur

  • Auroy S, Avril MF, Chompret A, Pham D, Goldstein AM, Bianchi-Scarra G, Frebourg T, Joly P, Spatz A, Rubino C, Demenais F, Bressac-de Paillerets B; French Hereditary Melanoma Study Group (2001) Sporadic multiple primary melanoma cases: CDKN2A germline mutations with a founder effect. Genes Chromosomes Cancer 32: 195–202

    Article  PubMed  CAS  Google Scholar 

  • Bale SJ, Dracopoli NC, Tucker MA, Clark WH Jr, Fraser MC, Stanger BZ, Green P, Donis-Keller H, Housman DE, Greene MH (1989) Mapping the gene for hereditary cutaneous malignant melanoma-dysplastic nevus to chromosome 1p. N Engl J Med 320: 1367–1372

    Article  PubMed  CAS  Google Scholar 

  • Bastiaens M, ter Huurne J, Gruis N, Bergman W, Westendorp R, Vermeer BJ, Bouwes Bavinck JN (2001) The melanocortin-1 receptor is the major freckle gene. Hum Mol Genet 10: 1701–1708

    Article  PubMed  CAS  Google Scholar 

  • Becker TM, Rizos H, Kefford RF, Mann GJ (2001) Functional impairment of melanoma-associated p16INK4a mutants in melanoma cells despite retention of cyclin-dependent kinase 4 binding. Clin Cancer Res 7: 3282–3288

    PubMed  CAS  Google Scholar 

  • Bergman W, Gruis N (1996) Correspondence: familial melanoma and pancreatic cancer. N Engl J Med 334: 471

    PubMed  CAS  Google Scholar 

  • Bergman W, Watson P, deJong J, Lynch HT, Fusaro RM (1990) Systemic cancer and the FAMMM syndrome. Br J Cancer 61: 932–936

    PubMed  CAS  Google Scholar 

  • Bishop DT, Demenais F, Goldstein AM, Bergman W, Bishop JN, Bressacde 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 (2002) Geographical variation in the penetrance of CDKN2A mutations for melanoma. J Natl Cancer Inst 94: 894–903

    PubMed  CAS  Google Scholar 

  • Borg A, Johannsson U, Johannsson O, Johannsson S, Westerdahl J, Masback A, Olsson H, Ingvar C (1996) Novel germline p16 mutation in familial malignant melanoma in southern Sweden. Cancer Res 56: 2497–2500

    PubMed  CAS  Google Scholar 

  • Borg A, Sandberg T, Nilsson K, Johannsson S, Westerdahl J, Masback A, Olsson H, Ingvar C (2000) High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-positive melanoma families. J Natl Cancer Inst 92: 1260–1266

    Article  PubMed  CAS  Google Scholar 

  • Box NF, Duffy DL, Chen W, Stark M, Martin NG, Sturm RA, Hayward NK (2001) MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations. Am J Hum Genet 69: 765–773

    Article  PubMed  CAS  Google Scholar 

  • Cannon-Albright LA, Goldgar DE, Wright EC, Turco A, Jost M, Meyer LJ, Piepkorn M, Zone JJ, Skolnich MH (1990) Evidence against the reported linkage of the cutaneous melanoma-dysplastic nevus syndrome locus to chromosome 1p36. Am J Hum Genet 46: 912–918

    PubMed  CAS  Google Scholar 

  • Cannon-Albright LA, Goldgar DE, Meyer LJ, Lewis CM, Anderson DE, Fountain JW, Hegi ME, Wiseman RW, Petty EM, Bale AE, Olopade OI, Diaz MO et al. (1992) Assignment of a locus for familial melanoma, MLM, to chromosome 9p13-p22. Science 258: 1148–1152

    PubMed  CAS  Google Scholar 

  • Chhajlani V, Wikberg JE (1992) Molecular cloning and expression of the human melanocyte stimulating hormone receptor cDNA. FEBS Lett 309: 417–420

    Article  PubMed  CAS  Google Scholar 

  • Ciotti P, Struewing JP, Mantelli M, Chompret A, Avril MF, Santi PL, Tucker MA, Bianchi-Scarra G, Bressac-de Paillerets B, Goldstein AM (2000) A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families. Am J Hum Genet 67: 311–319

    Article  PubMed  CAS  Google Scholar 

  • Della Torre G, Pasini B, Frigerio S, Donghi R, Rovini D, Delia D, Peters G, Huot TJ, Bianchi-Scarra G, Lantieri F, Rodolfo M, Parmiani G, Pierotti MA (2001) CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation. Br J Cancer 85: 836–844

    Article  PubMed  Google Scholar 

  • Foley Parker J, Florell SR, Alexander A, DiSario JA, Shami PJ, Leachman SA (2003) Pancreatic carcinoma surveillance in patients with familial melanoma. Arch Dermatol 139: 1019–1025

    Article  Google Scholar 

  • Ghiorzo P, Ciotti P, Mantelli M, Heouaine A, Queirolo P, Rainero ML, Ferrari C, Santi PL, De Marchi R, Farris A, Ajmar F, Bruzzi P, Bianchi-Scarr G (1999) Characterization of Ligurian melanoma families and risk of occurrence of other neoplasia. Int J Cancer 83: 441–448

    Article  PubMed  CAS  Google Scholar 

  • Gillanders E, Juo SH, Holland EA, Jones M, Nancarrow D, Freas-Lutz D, Sood R, Park N, Faruque M, Markey C, Kefford RF, Palmer J, Bergman W, Bishop DT, Tucker MA, Bressac-de Paillerets B, Hansson J, Stark M, Gruis N, Bishop JN, Goldstein AM, Bailey-Wilson JE, Mann GJ, Hayward N, Trent J; Lund Melanoma Study Group; Melanoma Genetics Consortium (2003) Localization of a novel melanoma susceptibility locus to 1p22. Am J Hum Genet 73: 301–313

    Article  PubMed  CAS  Google Scholar 

  • Goldstein AM (2004) Familial melanoma, pancreatic cancer and germline CDKN2A mutations. Hum Mutat 23: 630

    Article  PubMed  CAS  Google Scholar 

  • Goldstein AM, Tucker MA (2001a) Genetic epidemiology of cutaneous melanoma: a global perspective. Arch Dermatol 137: 1493–1496

    PubMed  CAS  Google Scholar 

  • Goldstein AM, Dracopoli NC, Ho EC, Fraser MC, Kearns KS, Bale SJ, McBride OW, Clark WH Jr, Tucker MA (1993) Further evidence for a locus for cutaneous malignant melanoma-dysplastic nevus (CMM/DN) on chromosome 1p, and evidence for genetic heterogeneity. Am J Hum Genet 52: 537–550

    PubMed  CAS  Google Scholar 

  • Goldstein AM, Fraser MC, Clark WH Jr, Tucker MA (1994) Age at diagnosis and transmission of invasive melanoma in 23 families with cutaneous malignant melanoma/dysplastic nevi. J Natl Cancer Inst 86: 1385–1390

    PubMed  CAS  Google Scholar 

  • Goldstein AM, Fraser MC, Struewing JP, Hussussian CJ, Ranade K, Zametkin DP, Fontaine LS, Organic SM, Dracopoli NC, Clark WH Jr (1995) Increased risk of pancreatic cancer in melanoma-prone kindreds with p16INK4A mutations. N Engl J Med 333: 970–974

    Article  PubMed  CAS  Google Scholar 

  • Goldstein AM, Struewing JP, Chidambaram A, Fraser MC, Tucker MA (2000) Genotype-phenotype relationships in American melanoma-prone families with CDKN2A and CDK4 mutations. J Natl Cancer Inst 92: 1006–1110

    Article  PubMed  CAS  Google Scholar 

  • Goldstein AM, Liu L, Shennan MG, Hogg D Tucker MA, Struewing JP (2001b) A common founder for the V196D CDKN2A mutation in seven North American melanoma-prone families. Br J Cancer 85: 527–530

    Article  PubMed  CAS  Google Scholar 

  • Goldstein AM, Chidambaram A, Halpern A, Holly EA, Guerry IV D, Sagebiel R, Elder DE, Tucker MA (2002) Rarity of CDK4 germline mutations in familial melanoma. Melanoma Res 12: 51–55

    Article  PubMed  CAS  Google Scholar 

  • Goldstein AM, Struewing JP, Fraser MC, Smith MW, Tucker MA (2004) Prospective risk of cancer in CDKN2A germline mutation carriers. J Med Genet 41: 421–424

    Article  PubMed  CAS  Google Scholar 

  • Greene MH, Goldin LR, Clark WH Jr, Lovrien E, Kraemer KH, Tucker MA, Elder DE, Fraser MC, Rowe S (1983) Segregation analysis of cutaneous melanoma: autosomal dominant trait possibily linked to the Rh locus. Proc Natl Acad Sci USA 80: 6071–6075

    Article  PubMed  CAS  Google Scholar 

  • Gruis NA, van der Velden PA, Sandkuijl LA, Prins DE, Weaver-Feldhaus J, Kamb A, Bergman W, Frants RR (1995a) Homozygotes for CDKN2 (p16) germline mutations in Dutch familial melanoma kindreds. Nat Genet 10: 351–353

    Article  PubMed  CAS  Google Scholar 

  • Gruis NA, Sandkuijl LA, van der Velden PA, Bergman W, Frants RR (1995) CDKN2a explains part of the clinical phenotype in Dutch familial atypical multiple-mole melanoma (FAMMM) syndrome families. Melanoma Res 5: 169–177

    PubMed  CAS  Google Scholar 

  • Hansen CB, Wadge LM, Lowstuter K, Boucher K, Leachman SA (2004) Clinical germline genetic testing for melanoma. Lancet Oncol 5: 314–319

    Article  PubMed  CAS  Google Scholar 

  • Harding RM, Healy E, Ray AJ, Ellis NS, Flanagan N, Todd C, Dixon C, Sajantila A, Jackson IJ, Birch-Machin MA, Rees JL (2000) Evidence for variable selective pressures at MC1R. Am J Hum Genet 66: 1351–1361

    Article  PubMed  CAS  Google Scholar 

  • Hashemi J, Patz A, Ueno T, Stierner U, Ringborg U, Hansson J (2000) CDKN2A germline mutations in individuals with multiple cutaneous melanomas. Cancer Res 60: 6864–6867

    PubMed  CAS  Google Scholar 

  • Hashemi J, Bendahl PO, Sandberg T, Platz A, Linder S, Stierner U, Olsson H, Ingvar C, Hansson J, Borg A (2001) Haplotype analysis and age estimation of the 113insR CDKN2A founder mutation in Swedish melanoma families. Genes Chromosomes Cancer 31: 107–116

    Article  PubMed  CAS  Google Scholar 

  • Healy E, Flannagan N, Ray A, Todd C, Jackson IJ, Matthews JN, Birch-Machin MA, Rees JL (2000) Melanocortin-1 receptor gene and sun sensitivity in individuals without red hair. Lancet 355: 1072–1073

    Article  PubMed  CAS  Google Scholar 

  • Hewitt C, Wu CL, Evans G, Howell A, Elles RG, Jordan R, Sloan P, Read AP, Thakker N (2002) Germline mutation of ARF in a melanoma kindred. Hum Mol Genet 11: 1273–1279

    Article  PubMed  CAS  Google Scholar 

  • Holland EA, Schmid H, Kefford RF, Mann GJ (1999) CDKN2A (p16 (INK4a)) and CDK4 mutation analysis in 131 Australian melanoma probands: effect of family history and multiple primary melanomas. Genes Chromosomes Cancer 25: 339–348

    Article  PubMed  CAS  Google Scholar 

  • Kamb A, Gruis NA, Weaver-Feldhaus J, Liu Q, Harshman K, Tavtigian SV, Stockert E, Day RS 3rd, Johnson BE, Skolnick MH (1994) A cell cycle regulator potentially involved in genesis of many tumor types. Science 264: 436–440

    PubMed  CAS  Google Scholar 

  • Kefford RF, Newton-Bishop JA Bergman W, Ticker MA on Behalf of the Melanoma Genetics Consortium (1999) Counseling and DNA testing for individuals perceived to be genetically predisposed to melanoma: a consensus statement of the Melanoma Genetics Consortium. J Clin Oncol 17: 3245–3251

    PubMed  CAS  Google Scholar 

  • Kennedy C, ter Huurne J, Berkhout M, Gruis N, Bastiaens M, Bergman W, Willemze R, Bavinck JN (2001) Melanocortin 1 receptor (MC1R) gene variants are associated with an increased risk for cutaneous melanoma which is largely independent of skin type and hair color. J Invest Dermatol 117: 294–300

    Article  PubMed  CAS  Google Scholar 

  • Liu L, Dilworth D, Gao L, Monzon J, Summers A, Lassam N, Hogg D (1999) Mutation of the CDKN2A 5’UTR creates an aberrant initiation codon and predisposes to melanoma. Nat Genet 21: 128–132

    Article  PubMed  CAS  Google Scholar 

  • Loo JC, Liu L, Hao A, Gao L, Agatep R, Shennan M, Summers A, Goldstein AM, Tucker MA, Deters C, Fusaro R, Blazer K, Weitzel J, Lassam N, Lynch H, Hogg D (2003) Germline splicing mutations of CDKN2A predispose to melanoma. Oncogene 22: 6387–6394

    Article  PubMed  CAS  Google Scholar 

  • Lynch HT, Brand RE, Hogg D, Deters CA, Fusaro RM, Lynch JF, Liu L, Knezetic J, Lassam NJ, Goggins M, Kern S (2002) Phenotypic variation in eight extended CDKN2A germline mutation familial atypical multiple mole melanoma-pancreatic carcinoma syndrome. Cancer 94: 84–96

    Article  PubMed  CAS  Google Scholar 

  • MacKie RM, Andrew N, Lanyon WG, Connor JM (1998) CDKN2A germline mutations in UK patients with familial melanoma and multiple primary melanomas. J Invest Dermatol 111: 269–272

    Article  PubMed  CAS  Google Scholar 

  • Mantelli M, Pastorino L, Ghiorzo P, Barile M, Bruno W, Gargiulo S, Sormani MP, Gliori S, Vecchio S, Ciotti P, Sertoli MR, Queirolo P, the Italian Melanoma Intergroup, Goldstein AM, Bianchi-Scarr G (2004) Early onset may predict G101W founder mutation carrier status in Ligurian melanoma patients. Melanoma Res 14: 443–448

    Article  PubMed  CAS  Google Scholar 

  • Mao L, Merlo A, Bedi G, Shapiro GI, Edwards CD, Rollins BJ, Sidransky D (1995) A novel p16INK4A transcript. Cancer Res 55: 2995–2997

    PubMed  CAS  Google Scholar 

  • Matichard E, Verpillat P, Meziani R, Gerard B, Descamps V, Legroux E, Burnouf M, Bertrand G, Bouscarat F, Archimbaud A, Picard C, Ollivaud L, Basset-Seguin N, Kerob D, Lanternier G, Lebbe C, Crickx B, Grandchamp B, Soufir N (2004) Melanocortin 1 receptor (MC1R) gene variants may increase the risk of melanoma in France independently of clinical risk factors and UV exposure. J Med Genet 41: e13

    Article  PubMed  CAS  Google Scholar 

  • Monzon J, Liu L, Brill H, Goldstein AM, Tucker MA, From L, McLaughlin J, Hogg D, Lassam NJ (1998) CDKN2A mutations in multiple primary melanomas. N Engl J Med 338: 879–887

    Article  PubMed  CAS  Google Scholar 

  • Mountjoy KG, Robbins LS, Mortrud MT, Cone RD (1992) The cloning of a family of genes that encode the melanocortin receptors. Science 257: 1248–1251

    PubMed  CAS  Google Scholar 

  • Nancarrow DJ, Mann GJ, Holland EA, Walker GJ, Beaton SC, Walters MK, Luxford C, Palmer JM, Donald JA, Weber JL (1993) Confirmation of chromosome 9p linkage in familial melanoma. Am J Hum Genet 53: 936–942

    PubMed  CAS  Google Scholar 

  • Newton Bishop JA, Harland M, Bennett DC, Bataille V, Goldstein AM, Tucker MA, Ponder BA, Cuzick J, Selby P, Bishop DT (1999) Mutation testing in melanoma families: INK4A, CDK4 and INK4D. Br J Cancer 80: 295–300

    Article  PubMed  CAS  Google Scholar 

  • Nielsen GP, Burns KL, Rosenberg AE, Louis DN (1998) CDKN2A gene deletions and loss of p16 expression occur in osteosarcomas that lack RB alterations. Am J Pathol 153: 159–163

    PubMed  CAS  Google Scholar 

  • Nobori T, Liura K, Wu DJ, Lois A, Takabayashi K, Carson DA (1994) Deletions of the cyclin-dependent kinase 4 inhibitor gene, CDK4I, in melanoma. Cancer Res 54: 5269–5272

    Google Scholar 

  • Palmer JS, Duffy DL, Box NF, Aitken JF, O’Gorman LE, Green AC, Hayward NK, Martin NG, Sturm RA (2000) Melanocortin-1 receptor polymorphism and risk of melanoma: is the association explained solely by pigmentation phenotype? Am J Hum Genet 66: 176–186

    Article  PubMed  CAS  Google Scholar 

  • Peris K, Fargnoli MC, Pacifico A, Surrenti T, Stolz W, Wolf P, Soyer HP, Chimenti S (2004) CDKN2A and MC1R mutations in patients with sporadic multiple primary melanoma. J Invest Dermatol 122: 1327–1330

    Article  PubMed  Google Scholar 

  • Piepkorn M (2000). Melanoma genetics: an update with focus on CDKN2A (p16)/ARF tumor suppressors. J Am Acad Dermatol 42: 705–722

    Article  PubMed  CAS  Google Scholar 

  • Platz A, Hansson J, Mansson-Brahme E, Lagerlof B, Linder S, Lundqvist E, Sevigny P, Inganas M, Ringborg U (1997) Screening of germline mutations in the CDKN2A and CDKN2B genes in Swedish families with hereditary cutaneous melanoma. J Natl Cancer Inst 89: 697–702

    Article  PubMed  CAS  Google Scholar 

  • Pollock PM, Spurr N, Bishop T, Newton-Bishop J, Gruis N, van der Velden PA, Goldstein AM, Tucker MA, Foulkes WD, Barnhill R, Haber D, Fountain J, Hayward NK (1998) Haplotype analysis of two recurrent CDKN2A mutations in 10 melanoma families: evidence for common founders and independent mutations. Hum Mutat 11: 424–431

    Article  PubMed  CAS  Google Scholar 

  • Pomerantz J, Schreiber-Agus N, Liegeois NJ, Silverman A, Alland L, Chin L, Potes J, Chen K, Orlow I, Lee HW, Cordon-Cardo C, DePinho RA (1998) The Ink4a tumor suppressor gene product, p19 (Arf ), interacts with MDM2 and neutralizes MDM2’s inhibition of p53. Cell 92: 713–723

    Article  PubMed  CAS  Google Scholar 

  • Quelle DE, Zindy F, Ashmun RA, Scherr CJ (1995) Alternative reading frames of the INK4a tumor suppressor gene encode two unrelated proteins capable of inducing cell cycle arrest. Cell 83: 993–1000

    Article  PubMed  CAS  Google Scholar 

  • Rana BK, Hewett-Emmett D, Jin L, Chang BH, Sambuughin N, Lin M, Watkins S, Bamshad M, Jorde LB, Ramsay M, Jenkins T, Li WH (1999) High polymorphism at the human melanocortin 1 receptor locus. Genetics 151: 1547–1557

    PubMed  CAS  Google Scholar 

  • Ranade K, Hussussian CJ, Sikorski RS, Varmus HE, Goldstein AM, Tucker MA, Serrano M, Hannon GJ, Beach D, Dracopoli NC (1995) Mutations associated with familial melanoma impair p16INK4a function. Nat Genet 10: 114–116

    Article  PubMed  CAS  Google Scholar 

  • Randerson-Moor JA, Harland M, Williams S, Cuthbert-Heavens D, Sheridan E, Aveyard J, Sibley K, Whitaker L, Knowles M, Bishop JN, Bishop DT (2001) A germline deletion of p14ARF but not CDKN2A in a melanoma-neural system tumor syndrome family. Hum Mol Genet 10: 55–62

    Article  PubMed  CAS  Google Scholar 

  • Rees JL (2004) The genetics of sun sensitivity in humans. Am J Hum Genet 75: 739–751

    Article  PubMed  CAS  Google Scholar 

  • Ringholm A, Klovins J, Rudzish R, Phillips S, Rees JL, Schioth HB (2004) Pharmacological characterization of loss of function mutations of the human melanocortin 1 receptor that are associated with red hair. J Invest Dermatol 123: 917–923

    Article  PubMed  CAS  Google Scholar 

  • Risch N, Sherman S (1992) Genetic analysis workshop 7: summary of the melanoma workshop. Cytogenet Cell Genet 59: 148–158

    Article  PubMed  CAS  Google Scholar 

  • Rizos H, Darmanian AP, Holland EA, Mann GJ, Kefford RF (2001) Mutations in the INK4a/ARF melanoma susceptibility locus functionally impair p14ARF. J Biol Chem 276: 41424–41434

    Article  PubMed  CAS  Google Scholar 

  • Robinson SJ, Healy E (2002) Human melanocortin 1 receptor (MC1R) gene variants alter melanoma cell growth and adhesion to extracellular matrix. Oncogene 21: 8037–8046

    Article  PubMed  CAS  Google Scholar 

  • Rulyak SJ, Brentnall TA, Lynch HT, Austin MA (2003) Characterization of the neoplastic phenotype in the familial atypical multiple-mole melanoma-pancreatic carcinoma syndrome. Cancer 98: 798–804

    Article  PubMed  CAS  Google Scholar 

  • Sarkar-Agrawal P, Vergilis I, Sharpless NE, DePinho RA, Rger TM (2004) Impaired processing of DNA photoproducts and ultraviolet hypermutability with loss of p16INK4a or p19ARF. J Natl Cancer Inst 96: 1790–1793

    Article  PubMed  CAS  Google Scholar 

  • Schi?h HB, Phillips SR, Rudzish R, Birch-Machin MA, Wikberg JE, Rees JL (1999) Loss of function mutations of the human melanocortin 1 receptor are common and are associated with the red hair. Biochem Biophys Res Commun 260: 488–491

    Article  Google Scholar 

  • Serrano M, Hannon GJ, Beach D (1993) A new regulatory motif in cellcycle control causing specific inhibition of cyclin D/CDK4. Nature 366: 704–707

    Article  PubMed  CAS  Google Scholar 

  • Soufir N, Avril MF, Chompret A, Demenais F, Bombled J, Spatz A, Stoppa-Lyonnet D, Benard J, Bressac-de Paillerets B (1998) Prevalence of p16 and CDK4 germline mutations in 48 melanomaprone families in France. The French Familial Melanoma Study Group. Hum Mol Genet 7: 209–216

    Article  PubMed  CAS  Google Scholar 

  • Soufir N, Lacapere JJ, Bertrand G, Matichard E, Meziani R, Mirebeau D, Descamps V, Gerard B, Archimbaud A, Ollivaud L, Bouscarat F, Baccard M, Lanternier G, Saiag P, Lebbe C, Basset-Seguin N, Crickx B, Cave H, Grandchamp B (2004) Germline mutations of the INK4a-ARF gene in patients with suspected genetic predisposition to melanoma. Br J Cancer 90: 503–509

    Article  PubMed  CAS  Google Scholar 

  • Tsao H, Zhang X, Kwitkiwski K, Finkelstein DM, Sober AJ, Haluska FG (2000) Low prevalence of germline CDKN2A and CDK4 mutations in patients with early-onset melanoma. Arch Dermatol 136: 1118–1122

    Article  PubMed  CAS  Google Scholar 

  • Valverde P, Healy E, Jackson I, Rees JL, Thody AJ (1995) Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans. Nat Genet 11: 328–330

    Article  PubMed  CAS  Google Scholar 

  • Valverde P, Healy E, Sikkink S, Haldane F, Thody AJ, Carothers A, Jackson IJ, Rees JL (1996) The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma. Hum Mol Genet 5: 1663–1666

    Article  PubMed  CAS  Google Scholar 

  • van der Velden PA, Sandkuijl LA, Bergman W, Pavel S, van Mourik L, Frants RR, Gruis NA (2001) Melanocortin-1 receptor variant R151C modifies melanoma risk in Dutch families with melanoma. Am J Hum Genet 69: 774–779

    Article  PubMed  Google Scholar 

  • van Haeringen A, Bergman W, Nelen MR, van der Kooij-Meijs E, Hendrikse I, Wijnen JT, Khan PM, Klasen EC, Frants RR (1989) Exclusion of the dysplastic nevus syndrome (DNS) locus from the short arm of chromosome 1 by linkage studies in Dutch families. Genomics 5: 61–64

    Article  PubMed  Google Scholar 

  • Vasen HF, Gruis NA, Frants NN, van der Velden PA, Hille ETM, Bergman W (2000) Risk of developing pacreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden). Int J Cancer 87: 809–811

    Article  PubMed  CAS  Google Scholar 

  • Wölfel T, Hauer M, Schneider J, Serrano M, Wolfel C, Klehmann-Hieb E, De Plaen E, Hankeln T, Meyer zum Buschenfelde KH, Beach D (1995) A p16INK4a-insensitive CDK4 mutant targeted cytolytic T lymphocytes in a human melanoma. Science 269: 1281–1284

    PubMed  Google Scholar 

  • Zhang Y, Xiong Y, Yarbrough WG (1998) ARF promotes MDM2 degradation and stabilizes p53: ARF-INK4a locus deletion impairs both the Rb and p53 tumor suppressor pathways. Cell 92: 725–734

    Article  PubMed  CAS  Google Scholar 

  • Zuo L, Weger J, Yang Q, Goldstein AM, Tucker MA, Walker GJ, Hayward N, Dracopoli NC (1996) Germline mutations in the p16INK4A binding domain of CDK4 in familial melanoma. Nat Genet 12: 97–99

    Article  PubMed  CAS  Google Scholar 

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  1. Department of Dermatology, University of l’Aquila, Via Vetoio, Coppilo 2, I-76100, l’Aquila, Italien

    Ketty Peris (Prof. Dr. med.) & Maria Concetta Fargnoli (Dr. med.)

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Peris, K., Fargnoli, M.C. (2006). Genetik des familiären Melanoms. In: Management des Melanoms. Onkologie aktuell. Springer, Berlin, Heidelberg . https://doi.org/10.1007/3-540-28988-7_1

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  • DOI: https://doi.org/10.1007/3-540-28988-7_1

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