Polymorphisms in nevus-associated genes MTAP, PLA2G6, and IRF4 and the risk of invasive cutaneous melanoma

Twin Research and Human Genetics

Volumn 14, Issue 5, 2011, Pages 422-432

  Kvaskoff, Marina ^a,b,c   Whiteman, David C ^c   Zhao, Zhen Z ^c   Montgomery, Grant W ^c   Martin, Nicholas G ^c   Hayward, Nicholas K ^c   Duffy, David L ^c  

^a INSTITUT GUSTAVE ROUSSY   (France)

^b UNIVERSITÉ PARIS SACLAY   (France)

^c QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

Author keywords

Cutaneous melanoma; Epidemiology; Genes; Nevi; Polymorphisms

Indexed keywords

5' METHYLTHIOADENOSINE PHOSPHORYLASE; INTERFERON REGULATORY FACTOR 4; PHOSPHOLIPASE A2 GROUP VI;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CANCER INVASION; CANCER RISK; CHILD; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; LOGISTIC REGRESSION ANALYSIS; MAJOR CLINICAL STUDY; MALE; MELANOMA; NEVUS; ONSET AGE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AUSTRALIA; CASE-CONTROL STUDIES; CHILD; DNA, NEOPLASM; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GROUP VI PHOSPHOLIPASES A2; HUMANS; INTERFERON REGULATORY FACTORS; MALE; MELANOMA; MIDDLE AGED; NEOPLASM INVASIVENESS; NEVUS, PIGMENTED; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; PURINE-NUCLEOSIDE PHOSPHORYLASE; RISK FACTORS; SKIN NEOPLASMS; YOUNG ADULT;

EID: 80053548444     PISSN: 18324274     EISSN: None     Source Type: Journal    
DOI: 10.1375/twin.14.5.422     Document Type: Article

References (31)

1. Baxter, A. J., Hughes, M. C., Kvaskoff, M., Siskind, V., Shekar, S., Aitken, J. F., Green, A. C., Duffy, D. L., Hayward, N. K., Martin, N. G., & Whiteman, D. C. (2008). The Queensland Study of Melanoma: Environmental and genetic associations (Q-MEGA); study design, baseline characteristics, and repeatability of phenotype and sun exposure measures. Twin Research and Human Genetics, 11, 183-196. (Pubitemid 351507001)
2. Bishop, D. T., Demenais, F., Iles, M. M., Harland, M., Taylor, J. C., Corda, E., Randerson-Moor, J., Aitken, J. F., Avril, M. F., Azizi, E., Bakker, B., Bianchi-Scarrà, G., Bressac-de Paillerets, B., Calista, D., Cannon-Albright, L. A., Chin-AWoeng, T., Debniak, T., Galore-Haskel, G., Ghiorzo, P., Gut, I., Hansson, J., Hocevar, M., Höiom, V., Hopper, J. L., Ingvar, C., Kanetsky, P. A., Kefford, R. F., Landi, M. T., Lang, J., Lubi ski, J., Mackie, R., Malvehy, J., Mann, G. J., Martin, N. G., Montgomery, G. W., van Nieuwpoort, F. A., Novakovic, S., Olsson, H., Puig, S., Weiss, M., van Workum, W., Zelenika, D., Brown, K. M., Goldstein, A. M., Gillanders, E. M., Boland, A., Galan, P., Elder, D. E., Gruis, N. A., Hayward, N. K., Lathrop, G. M., Barrett, J. H., & Bishop, J. A. (2009). Genome-wide association study identifies three loci associated with melanoma risk. Nature Genetics, 41, 920-925.
3. Broekaert, S. M., Roy, R., Okamoto, I., van den Oord, J., Bauer, J., Garbe, C., Barnhill, R. L., Busam, K. J., Cochran, A. J., Cook, M. G., Elder, D. E., McCarthy, S. W., Mihm, M. C., Schadendorf, D., Scolyer, R. A., Spatz, A., & Bastian, B. C. (2010). Genetic and morphologic features for melanoma classification. Pigment Cell and Melanoma Research, 23, 763-770.
4. Curtin, J. A., Fridlyand, J., Kageshita, T., Patel, H. N., Busam, K. J., Kutzner, H., Cho, K. H., Aiba, S., Brocker, E. B., LeBoit, P. E., Pinkel, D., & Bastian, B. C. (2005). Distinct sets of genetic alterations in melanoma. New England Journal of Medicine, 353, 2135-2147. (Pubitemid 41653105)
5. Duffy, D. L., Zhao, Z. Z., Sturm, R. A., Hayward, N. K., Martin, N. G., & Montgomery, G. W. (2010a). Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. Journal of Investigative Dermatology, 130, 520-528.
6. Duffy, D. L., Iles, M. M., Glass, D., Zhu, G., Barrett, J. H., Hoiom, V., Zhao, Z. Z., Sturm, R. A., Soranzo, N., Hammond, C., Kvaskoff, M., Whiteman, D. C., Mangino, M., Hansson, J., Newton-Bishop, J. A., GenoMEL, Bataille, V., Hayward, N. K., Martin, N. G., Bishop, D. T., Spector, T. D., & Montgomery, G. W. (2010b). IRF4 variants have age-specific effects on nevus count and predispose to melanoma. American Journal of Human Genetics, 87, 6-16.
7. Duncan, L. M. (2009). The classification of cutaneous melanoma. Hematology and Oncology Clinics of North America, 23, 501-513, ix.
8. Edlundh-Rose, E., Egyhazi, S., Omholt, K., Mansson-Brahme, E., Platz, A., Hansson, J., & Lundeberg, J. (2006). NRAS and BRAF mutations in melanoma tumors in relation to clinical characteristics: A study based on mutation screening by pyrosequencing. Melanoma Research, 16, 471-478. (Pubitemid 44934704)
9. Falchi, M., Bataille, V., Hayward, N. K., Duffy, D. L., Bishop, J. A., Pastinen, T., Cervino, A., Zhao, Z. Z., Deloukas, P., Soranzo, N., Elder, D. E., Barrett, J. H., Martin, N. G., Bishop, D. T., Montgomery, G. W., & Spector, T. D. (2009). Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi. Nature Genetics, 41, 915-919.
10. Gandini, S., Sera, F., Cattaruzza, M. S., Pasquini, P., Picconi, O., Boyle, P., & Melchi, C. F. (2005). Meta-analysis of risk factors for cutaneous melanoma: II. Sun exposure. European Journal of Cancer, 41, 45-60. (Pubitemid 40029658)
11. Han, J., Kraft, P., Nan, H., Guo, Q., Chen, C., Qureshi, A., Hankinson, S. E., Hu, F. B., Duffy, D. L., Zhao, Z. Z., et al. (2008). A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. PLoS Genetics, 4, e1000074.
12. Hosmer, D. W., & Lemeshow, S. (2000). Applied logistic regression. New York: John Wiley & Sons Inc.
13. IARC (International Agency for Research on Cancer). (1992). IARC Monographs on the evaluation of carcinogenic risks to humans: Solar and ultraviolet radiation (Vol. 55). London: World Health Organization.
14. Lachiewicz, A. M., Berwick, M., Wiggins, C. L., & Thomas, N. E. (2008). Epidemiologic support for melanoma heterogeneity using the surveillance, epidemiology, and end results program. Journal of Investigative Dermatology, 128, 1340-1342.
15. Lang, J., & MacKie, R. M. (2005). Prevalence of exon 15 BRAF mutations in primary melanoma of the superficial spreading, nodular, acral, and lentigo maligna subtypes. Journal of Investigative Dermatology, 125, 575-579.
16. Lens, M. B., & Dawes, M. (2004). Global perspectives of contemporary epidemiological trends of cutaneous malignant melanoma. British Journal of Dermatology, 150, 179-185. (Pubitemid 38352453)
17. MacKie, R. M., Hauschild, A., & Eggermont, A. M. (2009). Epidemiology of invasive cutaneous melanoma. Annals of Oncology, 20, vi1-7.
18. Maldonado, J. L., Fridlyand, J., Patel, H., Jain, A. N., Busam, K., Kageshita, T., Ono, T., Albertson, D. G., Pinkel, D., & Bastian, B. C. (2003). Determinants of BRAF mutations in primary melanomas. Journal of the National Cancer Institute, 95, 1878-1890.
19. Miller, A. J., & Mihm, M. C., Jr. (2006). Melanoma. New England Journal of Medicine, 355, 51-65.
20. Nelemans, P. J., Rampen, F. H., Ruiter, D. J., & Verbeek, A. L. (1995). An addition to the controversy on sunlight exposure and melanoma risk: A meta-analytical approach. Journal of Clinical Epidemiology, 48, 1331-1342.
21. Newton-Bishop, J. A., Chang, Y. M., Iles, M. M., Taylor, J. C., Bakker, B., Chan, M., Leake, S., Karpavicius, B., Haynes, S., Fitzgibbon, E., Elliott, F., Kanetsky, P. A., Harland, M., Barrett, J. H., & Bishop, D. T. (2010). Melanocytic nevi, nevus genes, and melanoma risk in a large case-control study in the United Kingdom. Cancer Epidemiology, Biomarkers and Prevention, 19, 2043-2054.
22. Oliveria, S. A., Saraiya, M., Geller, A. C., Heneghan, M. K., & Jorgensen, C. (2006). Sun exposure and risk of melanoma. Archives of Diseases in Childhood, 91, 131-138. (Pubitemid 43362517)
23. Thomas, N. E., Edmiston, S. N., Alexander, A., Millikan, R. C., Groben, P. A., Hao, H., Tolbert, D., Berwick, M., Busam, K., Begg, C. B., Mattingly, D., Ollila, D. W., Tse, C. K., Hummer, A., Lee-Taylor, J., & Conway, K. (2007). Number of nevi and early-life ambient UV exposure are associated with BRAF-mutant melanoma. Cancer Epidemiology, Biomarkers and Prevention, 16, 991-997. (Pubitemid 46910102)
24. Veierod, M. B., Parr, C. L., Lund, E., & Hjartaker, A. (2008). Reproducibility of self-reported melanoma risk factors in a large cohort study of Norwegian women. Melanoma Research, 18, 1-9. (Pubitemid 351628049)
25. Viros, A., Fridlyand, J., Bauer, J., Lasithiotakis, K., Garbe, C., Pinkel, D., & Bastian, B. C. (2008). Improving melanoma classification by integrating genetic and morphologic features. PLoS Medicine, 5, e120.
26. Wachsmuth, R. C., Gaut, R. M., Barrett, J. H., Saunders, C. L., Randerson-Moor, J. A., Eldridge, A., Martin, N. G., Bishop, T. D., & Newton Bishop, J. A. (2001). Heritability and gene-environment interactions for melanocytic nevus density examined in a U.K. adolescent twin study. Journal of Investigative Dermatology, 117, 348-352. (Pubitemid 34205721)
27. Whiteman, D. C., Stickley, M., Watt, P., Hughes, M. C., Davis, M. B., & Green, A. C. (2006). Anatomic site, sun exposure, and risk of cutaneous melanoma. Journal of Clinical Oncology, 24, 3172-3177. (Pubitemid 46638956)
28. Whiteman, D. C., Watt, P., Purdie, D. M., Hughes, M. C., Hayward, N. K., & Green, A. C. (2003). Melanocytic nevi, solar keratoses, and divergent pathways to cutaneous melanoma. Journal of the National Cancer Institute, 95, 806-812. (Pubitemid 36798427)
29. Yang, X. R., Liang, X., Pfeiffer, R. M., Wheeler, W., Maeder, D., Burdette, L., Yeager, M., Chanock, S., Tucker, M. A., & Goldstein, A. M. (2010). Associations of 9p21 variants with cutaneous malignant melanoma, nevi, and pigmentation phenotypes in melanoma-prone families with and without CDKN2A mutations. Familial Cancer, 9, 625-633.
30. Zhu, G., Duffy, D. L., Eldridge, A., Grace, M., Mayne, C., O'Gorman, L., Aitken, J. F., Neale, M. C., Hayward, N. K., Green, A. C., & Martin, N. G. (1999). A major quantitative- trait locus for mole density is linked to the familial melanoma gene CDKN2A: A maximum-likelihood combined linkage and association analysis in twins and their sibs. American Journal of Human Genetics, 65, 483-492. (Pubitemid 30463006)
31. Zhu, G., Montgomery, G. W., James, M. R., Trent, J. M., Hayward, N. K., Martin, N. G., & Duffy, D. L. (2007). A genome-wide scan for nevus count: Linkage to CDKN2A and to other chromosome regions. European Journal of Human Genetics, 15, 94-102. (Pubitemid 44921672)