Genetic variations of patients with familial or multiple melanoma in Southern Brazil

Journal of the European Academy of Dermatology and Venereology

Volumn 27, Issue 2, 2013, Pages

  Grazziotin, T C ^a   Rey, M C W ^a   Bica, C G ^a   Pinto, L A ^b   Bonamigo, R R ^a   Puig Butille, J A ^c,d   Cuellar, F ^c,e   Puig, S ^c,d  

^a UNIVERSIDADE FEDERAL DE CIÊNCIAS DA SAÚDE DE PORTO ALEGRE   (Brazil)

^b PONTIFICAL CATHOLIC UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^c UNIVERSITY OF BARCELONA   (Spain)

^d CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^e Jalisco   (Mexico)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE 4; CYCLIN DEPENDENT KINASE INHIBITOR 2A; MELANOCORTIN 1 RECEPTOR;

ARTICLE; CONTROLLED STUDY; FAMILIAL MELANOMA; FEMALE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MELANOMA; MULTIPLE PRIMARY MELANOMA; POLYMERASE CHAIN REACTION; POLYMORPHIC LOCUS; PRIORITY JOURNAL;

BRAZIL; CASE-CONTROL STUDIES; CYCLIN-DEPENDENT KINASE 4; FEMALE; GENES, P16; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HUMANS; MALE; MELANOMA; RECEPTOR, MELANOCORTIN, TYPE 1;

EID: 84872684625     PISSN: 09269959     EISSN: 14683083     Source Type: Journal    
DOI: 10.1111/j.1468-3083.2012.04567.x     Document Type: Article

References (31)

1. Larre Borges A, Cuellar F, Puig-Butille JA, et al. CDKN2A mutations in melanoma families from Uruguay. Br J Dermatol 2009; 161: 536-541.
2. Huber J, Ramos ES,. The P48T germline mutation and polymorphism in the CDKN2A gene of patients with melanoma. Braz J Med Biol Res 2006; 39: 237-241.
3. Ashton-Prolla P, Bakos L, Junqueira G Jr, et al. Clinical and molecular characterization of patients at risk for hereditary melanoma in southern Brazil. J Invest Dermatol 2008; 128: 421-425.
4. Ibrahim N, Haluska FG,. Molecular pathogenesis of cutaneous melanocytic neoplasms. Annu Rev Pathol 2009; 4: 551-579.
5. Leachman SA, Carucci J, Kohlmann W, et al. Selection criteria for genetic assessment of patients with familial melanoma. J Am Acad Dermatol 2009; 61: 677. 1-14.
6. Nelson AA, Tsao H,. Melanoma and genetics. Clin Dermatol 2009; 27: 46-52.
7. Bishop JN, Harland M, Bishop DT,. The genetics of melanoma. Br J Hosp Med (Lond) 2006; 67: 299-304.
8. Puig S, Ruiz A, Castel T, et al. 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 1997; 101: 359-364.
9. Mantelli M, Barile M, Ciotti P, et al. High prevalence of the G101W germline mutation in the CDKN2A (P16(ink4a)) gene in 62 Italian malignant melanoma families. Am J Med Genet 2002; 107: 214-221.
10. Hayward NK,. Genetics of melanoma predisposition. Oncogene 2003; 22: 3053-3062.
11. Palmer JS, Duffy DL, Box NF, et al. Melanocortin-1 receptor polymorphisms and risk of melanoma: is the association explained solely by pigmentation phenotype? Am J Hum Genet 2000; 66: 176-186.
12. Gillanders E, Juo SH, Holland EA, et al. Localization of a novel melanoma susceptibility locus to 1p22. Am J Hum Genet 2003; 73: 301-313.
13. Kennedy C, ter Huurne J, Berkhout M, et al. 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 2001; 117: 294-300.
14. Goldstein AM, Landi MT, Tsang S, et al. Association of MC1R variants and risk of melanoma in melanoma-prone families with CDKN2A mutations. Cancer Epidemiol Biomarkers Prev 2005; 14: 2208-2212.
15. Dwyer T, Stankovich JM, Blizzard L, et al. Does the addition of information on genotype improve prediction of the risk of melanoma and nonmelanoma skin cancer beyond that obtained from skin phenotype? Am J Epidemiol 2004; 159: 826-833.
16. Landi MT, Kanetsky PA, Tsang S, et al. MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population. J Natl Cancer Inst 2005; 97: 998-1007.
17. Kanetsky PA, Panossian S, Elder DE, et al. Does MC1R genotype convey information about melanoma risk beyond risk phenotypes? Cancer 2010; 116: 2416-2428.
18. Liu L, Dilworth D, Gao L, et al. Mutation of the CDKN2A 5′ UTR creates an aberrant initiation codon and predisposes to melanoma. Nat Genet 1999; 21: 128-132.
19. Harland M, Mistry S, Bishop DT, et al. A deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees. Hum Mol Genet 2001; 10: 2679-2686.
20. Mao L, Merlo A, Bedi G, et al. A novel p16INK4A transcript. Cancer Res 1995; 55: 2995-2997.
21. Soufir N, Avril MF, Chompret A, et al. 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: 209-216.
22. Badenas C, Torra R, San Millan JL, et al. Mutational analysis within the 3′ region of the PKD1 gene. Kidney Int 1999; 55: 1225-1233.
23. Kanetsky PA, Ge F, Najarian D, et al. Assessment of polymorphic variants in the melanocortin-1 receptor gene with cutaneous pigmentation using an evolutionary approach. Cancer Epidemiol Biomarkers Prev 2004; 13: 808-819.
24. Kumar R, Smeds J, Berggren P, et al. A single nucleotide polymorphism in the 3′untranslated region of the CDKN2A gene is common in sporadic primary melanomas but mutations in the CDKN2B, CDKN2C, CDK4 and p53 genes are rare. Int J Cancer 2001; 95: 388-393.
25. Debniak T, Gorski B, Huzarski T, et al. A common variant of CDKN2A (p16) predisposes to breast cancer. J Med Genet 2005; 42: 763-765.
26. Bakos L, Masiero NC, Bakos RM, et al. European ancestry and cutaneous melanoma in Southern Brazil. J Eur Acad Dermatol Venereol 2009; 23: 304-307.
27. Diffey BL, Elwood JN,. Tables of ambient solar ultraviolet radiation for use in epidemiological studies of malignant melanomas and other diseases. In, Gallagher RP, Elwood JM, eds. Epidemiological Aspects of Cutaneous Malignant Melanoma. Kluwer, Boston, 1994: 81-105.
28. Angeli C, Mallmann L, Amoretti R, et al. Estudo comparativo sobre o conhecimento e comportamento de adolescentes e adultos frente à exposição solar. An Bras Dermatol 1997; 72: 241-245.
29. Bakos L, Wagner M, Bakos RM, et al. Sunburn, sunscreens, and phenotypes: some risk factors for cutaneous melanoma in southern Brazil. Int J Dermatol 2002; 41: 557-562.
30. Bakos RM, Besch R, Zoratto GG, et al. The CDKN2A p.A148T variant is associated with cutaneous melanoma in Southern Brazil. Exp Dermatol 2011; 20: 890-893.
31. Bishop JN, Harland M, Randerson-Moor J, et al. Management of familial melanoma. Lancet Oncol 2007; 8: 46-54.