Melanoma susceptibility genes and risk assessment

Methods in Molecular Biology

Volumn 1102, Issue , 2014, Pages 381-393

  Marzuka Alcalá, Alexander ^a   Gabree, Michele Jacobs ^b   Tsao, Hensin ^c  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL CANCER CENTER   (United States)

Author keywords

BAP1; Cancer risk assessment; CDKN2A; COMMON syndrome; Familial melanoma; Genome wide association studies; Hereditary melanoma; MC1R; MelaPRO; MITF; P14ARF; p16INK4a

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 2A; EUMELANIN; MELANOCORTIN 1 RECEPTOR; MICROPHTHALMIA ASSOCIATED TRANSCRIPTION FACTOR; PHEOMELANIN; PROTEIN P53;

ARTICLE; CANCER RISK; CANCER SUSCEPTIBILITY; CELL CYCLE PROGRESSION; DNA DAMAGE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC TRANSCRIPTION; HUMAN; MELANOMA; METASTASIS POTENTIAL; PRIORITY JOURNAL; PROTEIN DEGRADATION; RADIATION EXPOSURE; RISK ASSESSMENT; RISK MANAGEMENT; SIGNAL TRANSDUCTION; SUMOYLATION; TUMOR GENE; UVEA MELANOMA;

GENES, NEOPLASM; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MELANOMA; RISK ASSESSMENT; SKIN NEOPLASMS;

EID: 84891816869     PISSN: 10643745     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-62703-727-3_20     Document Type: Article

References (56)

1. Goldstein AM, Tucker MA (2004) Familial melanoma and its management. In: Eeles R, Easton D, Eng C, Ponder B (eds) Genetic predisposition to cancer, 2nd edn. Arnold Publishers Ltd, London
2. Kamb A, Shattuck-Eidens D, Eeles R et al (1994) Analysis of the p16 gene (CDKN2A) as a candidate for the chromosome 9p melanoma susceptibility locus. Nat Genet 8:23-26
3. Hussussian CJ, Struewing JP, Goldstein AM et al (1994) Germline p16 mutations in familial melanoma. Nat Genet 8:15-21
4. Goldstein AM, Tucker MA (2001) Genetic epidemiology of cutaneous melanoma: A global perspective. Arch Dermatol 137:1493-1496
5. Goldstein AM, Chan M, Harland M et al (2007) Features associated with germline CDKN2A mutations: A GenoMEL study of melanomaprone families from three continents. J Med Genet 44:99-106
6. Hashemi J, Platz A, Ueno T et al (2000) CDKN2A germ-line mutations in individuals with multiple cutaneous melanomas. Cancer Res 60:6864-6867
7. Monzon J, Liu L, Brill H et al (1998) CDKN2A mutations in multiple primary melanomas. N Engl J Med 338:879-887
8. Koh J, Enders GH, Dynlacht BD et al (1995) Tumour-derived p16INK4a alleles encoding proteins defective in cell-cycle inhibition. Nature 375:506-510
9. Lukas J, Parry D, Aagaard L et al (1995) Retinoblastoma-protein-dependent cell-cycle inhibition by the tumour suppressor p16. Nature 375:503-506
10. Tsao H, Chin L, Garraway LA et al (2012) Melanoma: From mutations to medicine. Genes Dev 26(11):1131-1135
11. Udayakumar D, Mahato B, Gabree M et al (2010) Genetic determinants of cutaneous melanoma predisposition. Semin Cutan Med Surg 29(3):190-195
12. Pomerantz J, Schreiber-Agus N, Liegeois NJ et al (1998) The Ink4a tumor suppressor gene product, p19Arf, interacts with MDM2 and neutralizes MDM2's inhibition of p53. Cell 92:713-723
13. Stott FJ, Bates S, James MC et al (1998) The alternative product from the human CDKN2A locus, p14(ARF), participates in a regulatory feedback loop with p53 and MDM2. EMBO J 17:5001-5014
14. Zhang Y, Xiong Y, Yarbrough WG et al (1998) ARF promotes MDM2 degradation and stabilizes p53: ARF-INK4a locus deletion impairs both the Rb and p53 tumor suppression pathways. Cell 92:725-734
15. Bishop DT, Demenais F, Goldstein AM et al (2002) Geographical variation in the penetrance of CDKN2A mutations for melanoma. J Natl Cancer Inst 19:894-903
16. Begg CB, Orlow I, Hummer AJ et al (2005) Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample. J Natl Cancer Inst 97(20):1507-1515
17. Whiteman DC, Milligan A, Welch J et al (1997) Germline CDKN2A mutations in childhood melanoma. J Natl Cancer Inst 89:1460
18. Tsao H, Zhang X, Kwitkiwski K et al (2000) Low prevalence of germline CDKN2A and CDK4 mutations in patients with early-onset melanoma. Arch Dermatol 136:1118-1122
19. Foulkes WD, Flanders TY, Pollock PM et al (1997) The CDKN2A (p16) gene and human cancer. Mol Med 3(1):5-20
20. Tucker MA, Halpern A, Holly EA et al (1997) Clinically recognized dysplastic nevi. A central risk factor for cutaneous melanoma. JAMA 277:1439-1444
21. Puig S, Ruiz A, Castel T et al (1997) Inherited susceptibility to several cancers but absence of linkage between dysplastic nevus syndrome and CDKN2A in a melanoma family with a mutation in the CDKN2A (P16INK4A) gene. Hum Genet 101:359-364
22. Goldstein AM, Fraser MC, Struewing JP et al (1995) Increased risk of pancreatic cancer in melanoma-prone kindreds with p16INK4 mutations. N Engl J Med 333:970-974
23. Leachman SA, Carucci J, Kohlman W et al (2009) Selection criteria for genetic assessment of patients with melanoma. J Am Acad Dermatol 61(4):677
24. Wang W, Niendorf KB, Patel D et al (2010) Estimating CDKN2A carrier probability and personalizing cancer risk assessments in hereditary melanoma using MelaPRO. Cancer Res 70(2):552-559
25. Nikolaou V, Kang X, Stratigos A et al (2011) Comprehensive mutational analysis of CDKN2A and CDK4 in Greek patients with cutaneous melanoma. Br J Dermatol 165(6): 1219-1222
26. Zuo L, Weger J, Yang Q et al (1996) Germline mutations in p16INK4a binding domain of CDK4 in familial melanoma. Nat Genet 12:97-99
27. Fitzgerald MG, Harkin DP, Silva-Arrieta S et al (1996) Prevalence of germline mutations in p16, p19ARF, and CDK4 in familial melanoma: Analysis of a clinic-based population. Proc Natl Acad Sci 93:8541-8545
28. Soufi r N, Avril MF, Chompret A et al (1998) Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group. Hum Mol Genet 7:209-216
29. Harbour JW, Onken MD, Roberson ED et al (2010) Frequent mutation of BAP1 in metastasizing uveal melanomas. Science 330(6009):1410-1413
30. Wiesner T, Obenauf AC, Murali R et al (2011) Germline mutations in BAP1 predispose to melanocytic tumors. Nat Genet 43(10):1018-1021
31. Testa JR, Cheung M, Pei J et al (2011) Germline BAP1 mutations predispose to malignant mesothelioma. Nat Genet 43(10): 1022-1025
32. Njauw CN, Kim I, Piris A et al (2012) Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families. PLoS One 7(4):e35295
33. Carbone M, Korb FL, Baumann F et al (2012) BAP1 cancer syndrome: Malignant mesothelioma, uveal and cutaneous melanoma, and MBAITs. J Transl Med 10(1):179
34. Wadt K, Choi J, Chung JY et al (2012) A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma. Pigment Cell Melanoma Res. doi: 10.1111/ pcmr.12006
35. Gandini S, Sera F, Cattaruzza MS et al (2005) Meta-analysis of risk factors for cutaneous melanoma. I. Common and atypical naevi. Eur J Cancer 41:28-44
36. Gandini S, Sera F, Cattaruzza MS et al (2005) Meta-analysis of risk factors for cutaneous melanoma. III. Family history, actinic damage, and phenotypic factors. Eur J Cancer 41:2040-2059
37. Miller AJ, Tsao H (2010) New insights into pigmentary pathways and skin cancer. Br J Dermatol 162(1):22-28
38. Valverde F, Healy E, Jackson I et al (1995) Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans. Nat Genet 11:328-330
39. Kennedy C, ter Huurne J, Berkhout M et al (2001) Melanocortin 1 receptor (MC1R) gene variants are associated with an increased risk of cutaneous melanoma which is largely independent of skin type and hair color. J Invest Dermatol 117:294-300
40. Raimondi S, Sera F, Gandini S et al (2008) MC1R variants, melanoma, and red hair color phenotype: A meta-analysis. Int J Cancer 122: 2753-2760
41. Kraemer KH, Lee MM, Andrews AD et al (1994) The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer. The xeroderma pigmentosum paradigm. Arch Dermatol 130(8):1018-1021
42. Mitra D, Luo X, Wargo J et al (2011) Why redheads are at increased risk of melanoma: A novel BRAF mutant mouse model. Pigm Cell Melanoma R 24:1016
43. Levy C, Khaled M, Fisher DE et al (2006) MITF: Master regulator of melanocyte development and melanoma oncogene. Trends Mol Med 12(9):406-413
44. Yokoyama S, Woods S, Boyle GM et al (2011) A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma. Nature 480:99-103
45. Bertolotto C, Lesueur F, Giuliano S et al (2011) A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. Nature 480:94-98
46. Barrett JH, Iles MM, Harland M et al (2011) Genome-wide association study identifi es three new melanoma susceptibility loci. Nat Genet 43(11):1108-1113
47. Amos CI, Wang LE, Lee JE et al (2011) Genome-wide association study identifi es novel loci predisposing to cutaneous melanoma. Hum Mol Genet 20(24):5012-5023
48. Macgregor S, Montgomery GW, Liu JZ et al (2011) Genome-wide association study identifi es a new melanoma susceptibility locus at 1q21.3. Nat Genet 43(11):1114-1118
49. Falchi M, Bataille V, Hayward NK et al (2009) Genome-wide association study identifi es variants at 9p21 and 22q13 associated with development of cutaneous nevi. Nat Genet 41(8):915-919
50. Bishop DT, Demenais F, Iles MM et al (2009) Genome-wide association study identifi es three loci associated with melanoma risk. Nat Genet 41(8):920-925
51. Niendorf KB, Goggins W, Yang G et al (2006) MELPREDICT: A logistic regression model to estimate CDKN2A carrier probability. J Med Genet 43:501-506
52. Robson ME, Storm CD, Weitzel J et al (2010) Policy statement update: Genetic and genomic testing for cancer susceptibility. J Clin Oncol 28:893-901
53. Kefford R, Bishop JN, Tucker M et al (2002) Genetic testing for melanoma. Lancet Oncol 3:653-654
54. Kefford RF, Newton Bishop JA, Bergman W et al (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
55. Niendorf KB, Tsao H (2006) Cutaneous melanoma: Family screening and genetic testing. Dermatol Ther 19:1-8
56. Rulyak SJ, Kimmey MB, Veenstra DL et al (2003) Cost-effectiveness of pancreatic cancer screening in familial pancreatic cancer kindreds. Gastrointest Endosc 57:23-29