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References

These sources were used to develop the Genetics Home Reference gene summary on the MC1R gene.

Duffy DL, Box NF, Chen W, Palmer JS, Montgomery GW, James MR, Hayward NK, Martin NG, Sturm RA. Interactive effects of MC1R and OCA2 on melanoma risk phenotypes. Hum Mol Genet. 2004 Feb 15;13(4):447-61. Epub 2004 Jan 6. PubMed citation
Entrez Gene
García-Borrón JC, Sánchez-Laorden BL, Jiménez-Cervantes C. Melanocortin-1 receptor structure and functional regulation. Pigment Cell Res. 2005 Dec;18(6):393-410. Review. PubMed citation
Ha T, Naysmith L, Waterston K, Oh C, Weller R, Rees JL. Defining the quantitative contribution of the melanocortin 1 receptor (MC1R) to variation in pigmentary phenotype. Ann N Y Acad Sci. 2003 Jun;994:339-47. Review. PubMed citation
Healy E. Melanocortin 1 receptor variants, pigmentation, and skin cancer susceptibility. Photodermatol Photoimmunol Photomed. 2004 Dec;20(6):283-8. Review. PubMed citation
Kanetsky PA, Rebbeck TR, Hummer AJ, Panossian S, Armstrong BK, Kricker A, Marrett LD, Millikan RC, Gruber SB, Culver HA, Zanetti R, Gallagher RP, Dwyer T, Busam K, From L, Mujumdar U, Wilcox H, Begg CB, Berwick M. Population-based study of natural variation in the melanocortin-1 receptor gene and melanoma. Cancer Res. 2006 Sep 15;66(18):9330-7. PubMed citation
King RA, Willaert RK, Schmidt RM, Pietsch J, Savage S, Brott MJ, Fryer JP, Summers CG, Oetting WS. MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2). Am J Hum Genet. 2003 Sep;73(3):638-45. Epub 2003 Jul 22. PubMed citation
Landi MT, Bauer J, Pfeiffer RM, Elder DE, Hulley B, Minghetti P, Calista D, Kanetsky PA, Pinkel D, Bastian BC. MC1R germline variants confer risk for BRAF-mutant melanoma. Science. 2006 Jul 28;313(5786):521-2. Epub 2006 Jun 29. PubMed citation
Mumm CD, Draznin M. Melanocortin-1 receptor: loss of function mutations and skin cancer. Dermatol Online J. 2006 Sep 8;12(5):13. Review. PubMed citation
Rees JL. Genetics of hair and skin color. Annu Rev Genet. 2003;37:67-90. Review. PubMed citation
Rees JL. The genetics of sun sensitivity in humans. Am J Hum Genet. 2004 Nov;75(5):739-51. Epub 2004 Sep 15. Review. PubMed citation
Rouzaud F, Kadekaro AL, Abdel-Malek ZA, Hearing VJ. MC1R and the response of melanocytes to ultraviolet radiation. Mutat Res. 2005 Apr 1;571(1-2):133-52. Epub 2005 Jan 26. Review. PubMed citation
Sturm RA. Skin colour and skin cancer - MC1R, the genetic link. Melanoma Res. 2002 Oct;12(5):405-16. Review. PubMed citation


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