Inherited variation at MC1R and ASIP and association with melanoma-specific survival

International Journal of Cancer

Volumn 136, Issue 11, 2015, Pages 2659-2667

  Taylor, Nicholas J ^a   Reiner, Anne S ^b   Begg, Colin B ^b   Cust, Anne E ^c   Busam, Klaus J ^b   Anton Culver, Hoda ^d   Dwyer, Terence ^e   From, Lynn ^f   Gallagher, Richard P ^g   Gruber, Stephen B ^h   Rosso, Stefano ⁱ   White, Kirsten A ^m   Zanetti, Roberto ⁱ   Orlow, Irene ^b   Thomas, Nancy E ^j   Rebbeck, Timothy R ^k,l   Berwick, Marianne ^m   Kanetsky, Peter A ^a  

^a H LEE MOFFITT CANCER CENTER AND RESEARCH INSTITUTE   (United States)

^b MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^c UNIVERSITY OF SYDNEY   (Australia)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e INTERNATIONAL AGENCY FOR RESEARCH ON CANCER   (France)

^f WOMEN S COLLEGE HOSPITAL   (Canada)

^g BRITISH COLUMBIA CANCER AGENCY   (Canada)

^h UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

ⁱ CPO Centre for Epidemiology and Prevention in Oncology in Piedmont   (Italy)

^j UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^k UNIVERSITY OF PENNSYLVANIA   (United States)

^l UNIVERSITY OF PENNSYLVANIA   (United States)

^m UNIVERSITY OF NEW MEXICO SCHOOL OF MEDICINE   (United States)

more..

Author keywords

ASIP; GEM study; MC1R; melanoma; survival

Indexed keywords

AGOUTI PROTEIN; MELANOCORTIN 1 RECEPTOR; ASIP PROTEIN, HUMAN;

ADULT; AGED; AGOUTI GENE; ALLELE; ARTICLE; CANCER SPECIFIC SURVIVAL; CANCER SURVIVAL; CONTROLLED STUDY; FEMALE; GENE LOCUS; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MELANOCORTIN 1 RECEPTOR GENE; MELANOMA; MIDDLE AGED; OVERALL SURVIVAL; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; GENETIC ASSOCIATION STUDY; GENETIC VARIATION; GENETICS; HEREDITY; MORTALITY; PATHOLOGY; PROPORTIONAL HAZARDS MODEL; VERY ELDERLY; YOUNG ADULT;

ADULT; AGED; AGED, 80 AND OVER; AGOUTI SIGNALING PROTEIN; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC VARIATION; GENOTYPE; HEREDITY; HUMANS; MALE; MELANOMA; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; PROPORTIONAL HAZARDS MODELS; RECEPTOR, MELANOCORTIN, TYPE 1; YOUNG ADULT;

EID: 84924897917     PISSN: 00207136     EISSN: 10970215     Source Type: Journal    
DOI: 10.1002/ijc.29317     Document Type: Article

References (29)

1. Raimondi S, Sera F, Gandini S, et al. MC1R variants, melanoma and red hair color phenotype: a meta-analysis. Int J Cancer 2008; 122: 2753-60.
2. Dessinioti C, Antoniou C, Katsambas A, et al. Melanocortin 1 receptor variants: functional role and pigmentary associations. Photochem Photobiol 2011; 87: 978-87.
3. Robinson S, Dixon S, August S, et al. Protection against UVR involves MC1R-mediated non-pigmentary and pigmentary mechanisms in vivo. J Invest Dermatol 2010; 130: 1904-13.
4. Kadekaro AL, Leachman S, Kavanagh RJ, et al. Melanocortin 1 receptor genotype: an important determinant of the damage response of melanocytes to ultraviolet radiation. FASEB J 2010; 24: 3850-60.
5. Davies JR, Randerson-Moor J, Kukalizch K, et al. Inherited variants in the MC1R gene and survival from cutaneous melanoma: a BioGenoMEL study. Pigm Cell Melanoma Res 2012; 25: 384-94.
6. Gudbjartsson DF, Sulem P, Stacey SN, et al. ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma. Nat Genet 2008; 40: 886-91.
7. Brown KM, Macgregor S, Montgomery GW, et al. Common sequence variants on 20q11.22 confer melanoma susceptibility. Nat Genet 2008; 40: 838-40.
8. Nan H, Kraft P, Hunter DJ, et al. Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians. Int J Cancer 2009; 125: 909-17.
9. Helsing P, Nymoen DA, Rootwelt H, et al. MC1R, ASIP, TYR, and TYRP1 gene variants in a population-based series of multiple primary melanomas. Genes, Chromosome Canc 2012; 51: 654-61.
10. 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.
11. Kanetsky PA, Rebbeck TR, Hummer AJ, et al. Population-based study of natural variation in the melanocortin-1 receptor gene and melanoma. Cancer Res 2006; 66: 9330-7.
12. Millikan RC, Hummer A, Begg C, et al. Polymorphisms in nucleotide excision repair genes and risk of multiple primary melanoma: the Genes Environment and Melanoma Study. Carcinogenesis 2006; 27: 610-8.
13. Begg CB, Hummer AJ, Mujumdar U, et al. A design for cancer case-control studies using only incident cases: experience with the GEM study of melanoma. Int J Epidemiol 2006; 35: 756-64.
14. Berwick M, Orlow I, Hummer AJ, et al. The prevalence of CDKN2A germ-line mutations and relative risk for cutaneous malignant melanoma: an international population-based study. Cancer Epidem Biomar 2006; 15: 1520-5.
15. Kricker A, Armstrong BK, Goumas C, et al. Survival for patients with single and multiple primary melanomas: the genes, environment, and melanoma study. JAMA Dermatol 2013; 149: 921-7.
16. Begg CB, Hummer A, Mujumdar U, et al. Familial aggregation of melanoma risks in a large population-based sample of melanoma cases. Cancer Cause Control 2004; 15: 957-65.
17. Sturm RA, Duffy DL, Box NF, et al. The role of melanocortin-1 receptor polymorphism in skin cancer risk phenotypes. Pigm Cell Res 2003; 16: 266-72.
18. 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.
19. Schioth HB, Phillips SR, Rudzish R, et al. Loss of function mutations of the human melanocortin 1 receptor are common and are associated with red hair. Biochem Biophys Res Commun 1999; 260: 488-91.
20. Flanagan N, Healy E, Ray A, et al. Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation. Hum Mol Genet 2000; 9: 2531-7.
21. Maccioni L, Rachakonda PS, Scherer D, et al. Variants at chromosome 20 (ASIP locus) and melanoma risk. Int J Cancer 2013; 132: 42-54.
22. Orlow I, Roy P, Reiner AS, et al. Vitamin D receptor polymorphisms in patients with cutaneous melanoma. Int J Cancer 2012; 130: 405-18.
23. Stephens M, Smith NJ, Donnelly P,. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 2001; 68: 978-89.
24. Stephens M, Scheet P,. Accounting for decay of linkage disequilibrium in haplotype inference and missing-data imputation. Am J Hum Genet 2005; 76: 449-62.
25. Valverde P, Healy E, Jackson I, et al. Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans. Nat Genet 1995; 11: 328-30.
26. Chintala S, Li W, Lamoreux ML, et al. Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cells. Proc Natl Acad Sci USA 2005; 102: 10964-9.
27. Sulem P, Gudbjartsson DF, Stacey SN, et al. Two newly identified genetic determinants of pigmentation in Europeans. Nat Genet 2008; 40: 835-7.
28. Begg CB, Schrag D,. Attribution of deaths following cancer treatment. J Natl Cancer Inst 2002; 94: 1044-5.
29. Surveillance, Epidemiology, and End Results (SEER) Program. SEER Stat Database: Incidence-SEER 18 Regs Research Data + Hurricane Katrina Impacted Louisiana cases, Nov. 2013 Sub (1973-2010 varying), vol. 2013: National Cancer Institute, DCCPS, Surveillance Research Program, Surveillance Systems Branch, 2013: Melanoma stage distribution among Whites (yr of dx. 2004-10), males and females, all ages.