ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma
10.1038/ng.161
Crossref journal-article
Springer Science and Business Media LLC
Nature Genetics (297)
Bibliography

Gudbjartsson, D. F., Sulem, P., Stacey, S. N., Goldstein, A. M., Rafnar, T., Sigurgeirsson, B., Benediktsdottir, K. R., Thorisdottir, K., Ragnarsson, R., Sveinsdottir, S. G., Magnusson, V., Lindblom, A., Kostulas, K., Botella-Estrada, R., Soriano, V., Juberías, P., Grasa, M., Saez, B., Andres, R., … Stefansson, K. (2008). ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma. Nature Genetics, 40(7), 886–891.

Authors 38
  1. Daniel F Gudbjartsson (first)
  2. Patrick Sulem (additional)
  3. Simon N Stacey (additional)
  4. Alisa M Goldstein (additional)
  5. Thorunn Rafnar (additional)
  6. Bardur Sigurgeirsson (additional)
  7. Kristrun R Benediktsdottir (additional)
  8. Kristin Thorisdottir (additional)
  9. Rafn Ragnarsson (additional)
  10. Steinunn G Sveinsdottir (additional)
  11. Veronica Magnusson (additional)
  12. Annika Lindblom (additional)
  13. Konstantinos Kostulas (additional)
  14. Rafael Botella-Estrada (additional)
  15. Virtudes Soriano (additional)
  16. Pablo Juberías (additional)
  17. Matilde Grasa (additional)
  18. Berta Saez (additional)
  19. Raquel Andres (additional)
  20. Dominique Scherer (additional)
  21. Peter Rudnai (additional)
  22. Eugene Gurzau (additional)
  23. Kvetoslava Koppova (additional)
  24. Lambertus A Kiemeney (additional)
  25. Margret Jakobsdottir (additional)
  26. Stacy Steinberg (additional)
  27. Agnar Helgason (additional)
  28. Solveig Gretarsdottir (additional)
  29. Margaret A Tucker (additional)
  30. José I Mayordomo (additional)
  31. Eduardo Nagore (additional)
  32. Rajiv Kumar (additional)
  33. Johan Hansson (additional)
  34. Jon H Olafsson (additional)
  35. Jeffrey Gulcher (additional)
  36. Augustine Kong (additional)
  37. Unnur Thorsteinsdottir (additional)
  38. Kari Stefansson (additional)
References 30 Referenced 282
  1. Jemal, A. et al. Cancer statistics, 2007. CA Cancer J. Clin. 57, 43–66 (2007). (10.3322/canjclin.57.1.43) / CA Cancer J. Clin. by A Jemal (2007)
  2. Miller, D.L. & Weinstock, M.A. Nonmelanoma skin cancer in the United States: incidence. J. Am. Acad. Dermatol. 30, 774–778 (1994). (10.1016/S0190-9622(08)81509-5) / J. Am. Acad. Dermatol. by DL Miller (1994)
  3. Markovic, S.N. et al. Malignant melanoma in the 21st century, part 1: epidemiology, risk factors, screening, prevention, and diagnosis. Mayo Clin. Proc. 82, 364–380 (2007). (10.1016/S0025-6196(11)61033-1) / Mayo Clin. Proc. by SN Markovic (2007)
  4. Oliveria, S.A., Saraiya, M., Geller, A.C., Heneghan, M.K. & Jorgensen, C. Sun exposure and risk of melanoma. Arch. Dis. Child. 91, 131–138 (2006). (10.1136/adc.2005.086918) / Arch. Dis. Child. by SA Oliveria (2006)
  5. Madan, V., Hoban, P., Strange, R.C., Fryer, A.A. & Lear, J.T. Genetics and risk factors for basal cell carcinoma. Br. J. Dermatol. 154 Suppl 1, 5–7 (2006). (10.1111/j.1365-2133.2006.07229.x) / Br. J. Dermatol. by V Madan (2006)
  6. Han, J., Colditz, G.A. & Hunter, D.J. Risk factors for skin cancers: a nested case-control study within the Nurses' Health Study. Int. J. Epidemiol. 35, 1514–1521 (2006). (10.1093/ije/dyl197) / Int. J. Epidemiol. by J Han (2006)
  7. Valverde, P. et al. The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma. Hum. Mol. Genet. 5, 1663–1666 (1996). (10.1093/hmg/5.10.1663) / Hum. Mol. Genet. by P Valverde (1996)
  8. Bastiaens, M.T. et al. Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair. Am. J. Hum. Genet. 68, 884–894 (2001). (10.1086/319500) / Am. J. Hum. Genet. by MT Bastiaens (2001)
  9. Han, J., Kraft, P., Colditz, G.A., Wong, J. & Hunter, D.J. Melanocortin 1 receptor variants and skin cancer risk. Int. J. Cancer 119, 1976–1984 (2006). (10.1002/ijc.22074) / Int. J. Cancer by J Han (2006)
  10. Palmer, J.S. et al. Melanocortin-1 receptor polymorphisms and risk of melanoma: is the association explained solely by pigmentation phenotype? Am. J. Hum. Genet. 66, 176–186 (2000). (10.1086/302711) / Am. J. Hum. Genet. by JS Palmer (2000)
  11. Kennedy, C. 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. 117, 294–300 (2001). (10.1046/j.0022-202x.2001.01421.x) / J. Invest. Dermatol. by C Kennedy (2001)
  12. Box, N.F. et al. Melanocortin-1 receptor genotype is a risk factor for basal and squamous cell carcinoma. J. Invest. Dermatol. 116, 224–229 (2001). (10.1046/j.1523-1747.2001.01224.x) / J. Invest. Dermatol. by NF Box (2001)
  13. Sulem, P. et al. Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat. Genet. 39, 1443–1452 (2007). (10.1038/ng.2007.13) / Nat. Genet. by P Sulem (2007)
  14. Sulem, P. et al. Two new genetic determinants of pigmentation in Europeans. Nat. Genet. advance online publication, doi:10.1038/ng.160 (25 May 2008). (10.1038/ng.160)
  15. Scherer, D. et al. MC1R variants associated susceptibility to basal cell carcinoma of skin: interaction with host factors and XRCC3 polymorphism. Int. J. Cancer 122, 1787–1793 (2008). (10.1002/ijc.23257) / Int. J. Cancer by D Scherer (2008)
  16. Voisey, J. & van Daal, A. Agouti: from mouse to man, from skin to fat. Pigment Cell Res. 15, 10–18 (2002). (10.1034/j.1600-0749.2002.00039.x) / Pigment Cell Res. by J Voisey (2002)
  17. Suzuki, I. et al. Agouti signaling protein inhibits melanogenesis and the response of human melanocytes to alpha-melanotropin. J. Invest. Dermatol. 108, 838–842 (1997). (10.1111/1523-1747.ep12292572) / J. Invest. Dermatol. by I Suzuki (1997)
  18. Kanetsky, P.A. et al. A polymorphism in the agouti signaling protein gene is associated with human pigmentation. Am. J. Hum. Genet. 70, 770–775 (2002). (10.1086/339076) / Am. J. Hum. Genet. by PA Kanetsky (2002)
  19. Landi, M.T. et al. MC1R, ASIP and DNA repair in sporadic and familial melanoma in a Mediterranean population. J. Natl. Cancer Inst. 97, 998–1007 (2005). (10.1093/jnci/dji176) / J. Natl. Cancer Inst. by MT Landi (2005)
  20. Meziani, R. et al. Association study of the g.8818A>G polymorphism of the human agouti gene with melanoma risk and pigmentary characteristics in a French population. J. Dermatol. Sci. 40, 133–136 (2005). (10.1016/j.jdermsci.2005.08.001) / J. Dermatol. Sci. by R Meziani (2005)
  21. King, R.A. et al. Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism. J. Clin. Invest. 87, 1046–1053 (1991). (10.1172/JCI115064) / J. Clin. Invest. by RA King (1991)
  22. Frudakis, T. et al. Sequences associated with human iris pigmentation. Genetics 165, 2071–2083 (2003). (10.1093/genetics/165.4.2071) / Genetics by T Frudakis (2003)
  23. Wong, T.H. & Rees, J.L. The relation between melanocortin 1 receptor (MC1R) variation and the generation of phenotypic diversity in the cutaneous response to ultraviolet radiation. Peptides 26, 1965–1971 (2005). (10.1016/j.peptides.2004.11.021) / Peptides by TH Wong (2005)
  24. Rees, J. Plenty new under the sun. J. Invest. Dermatol. 126, 1691–1692 (2006). (10.1038/sj.jid.5700345) / J. Invest. Dermatol. by J Rees (2006)
  25. Stacey, S.N. et al. Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. Nat. Genet. 39, 865–869 (2007). (10.1038/ng2064) / Nat. Genet. by SN Stacey (2007)
  26. Kutyavin, I.V. et al. A novel endonuclease IV post-PCR genotyping system. Nucleic Acids Res. 34, e128 (2006). (10.1093/nar/gkl679) / Nucleic Acids Res. by IV Kutyavin (2006)
  27. Gretarsdottir, S. et al. The gene encoding phosphodiesterase 4D confers risk of ischemic stroke. Nat. Genet. 35, 131–138 (2003). (10.1038/ng1245) / Nat. Genet. by S Gretarsdottir (2003)
  28. Grant, S.F. et al. Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. Nat. Genet. 38, 320–323 (2006). (10.1038/ng1732) / Nat. Genet. by SF Grant (2006)
  29. Sturm, R.A. & Frudakis, T.N. Eye colour: portals into pigmentation genes and ancestry. Trends Genet. 20, 327–332 (2004). (10.1016/j.tig.2004.06.010) / Trends Genet. by RA Sturm (2004)
  30. Duffy, D.L. et al. A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation. Am. J. Hum. Genet. 80, 241–252 (2007). (10.1086/510885) / Am. J. Hum. Genet. by DL Duffy (2007)
Dates
Type When
Created 17 years, 3 months ago (May 18, 2008, 3:01 p.m.)
Deposited 2 years, 3 months ago (May 18, 2023, 4:44 p.m.)
Indexed 3 weeks, 2 days ago (Aug. 3, 2025, 6:47 p.m.)
Issued 17 years, 3 months ago (May 18, 2008)
Published 17 years, 3 months ago (May 18, 2008)
Published Online 17 years, 3 months ago (May 18, 2008)
Published Print 17 years, 1 month ago (July 1, 2008)
Funders 0

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@article{Gudbjartsson_2008, title={ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma}, volume={40}, ISSN={1546-1718}, url={http://dx.doi.org/10.1038/ng.161}, DOI={10.1038/ng.161}, number={7}, journal={Nature Genetics}, publisher={Springer Science and Business Media LLC}, author={Gudbjartsson, Daniel F and Sulem, Patrick and Stacey, Simon N and Goldstein, Alisa M and Rafnar, Thorunn and Sigurgeirsson, Bardur and Benediktsdottir, Kristrun R and Thorisdottir, Kristin and Ragnarsson, Rafn and Sveinsdottir, Steinunn G and Magnusson, Veronica and Lindblom, Annika and Kostulas, Konstantinos and Botella-Estrada, Rafael and Soriano, Virtudes and Juberías, Pablo and Grasa, Matilde and Saez, Berta and Andres, Raquel and Scherer, Dominique and Rudnai, Peter and Gurzau, Eugene and Koppova, Kvetoslava and Kiemeney, Lambertus A and Jakobsdottir, Margret and Steinberg, Stacy and Helgason, Agnar and Gretarsdottir, Solveig and Tucker, Margaret A and Mayordomo, José I and Nagore, Eduardo and Kumar, Rajiv and Hansson, Johan and Olafsson, Jon H and Gulcher, Jeffrey and Kong, Augustine and Thorsteinsdottir, Unnur and Stefansson, Kari}, year={2008}, month=may, pages={886–891} }