Analysis of MC1R variants in Indian oculocutaneous albinism patients: Highlighting the risk of skin cancer among albinos

Journal of Genetics

Volumn 92, Issue 2, 2013, Pages 305-308

  Sengupta, Mainak ^a,d   Sarkar, Devroop ^a   Mondal, Maitreyee ^a   Samanta, Swapan ^b   Sil, Asim ^c   Ray, Kunal ^a  

^a INDIAN INSTITUTE OF CHEMICAL BIOLOGY   (India)

^b CALCUTTA NATIONAL MEDICAL COLLEGE   (India)

^c Netra Niramay Niketan   (India)

^d UNIVERSITY OF CALCUTTA   (India)

Author keywords

albinism; MC1R; melanin; melanoma; OCA; skin cancer

Indexed keywords

MELANOCORTIN 1 RECEPTOR;

ADOLESCENT; ADULT; ARTICLE; CASE CONTROL STUDY; FEMALE; GENETIC PREDISPOSITION; GENETICS; HUMAN; INDIA; MALE; MIDDLE AGED; NUCLEOTIDE SEQUENCE; OCULOCUTANEOUS ALBINISM; RISK FACTOR; SKIN TUMOR; YOUNG ADULT;

ADOLESCENT; ADULT; ALBINISM, OCULOCUTANEOUS; CASE-CONTROL STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INDIA; MALE; MIDDLE AGED; RECEPTOR, MELANOCORTIN, TYPE 1; RISK FACTORS; SKIN NEOPLASMS; YOUNG ADULT;

EID: 84883773821     PISSN: 00221333     EISSN: 09737731     Source Type: Journal    
DOI: 10.1007/s12041-013-0250-2     Document Type: Article

References (20)

1. Asuquo M. E., Otei O. O., Omotoso J. and Bassey E. E. 2010 Letter: Skin cancer in albinos at the University of Calabar Teaching Hospital, Calabar, Nigeria. Dermatol. Online J. 16, 14.
2. Bastiaens M. T., ter Huurne J. A., Kielich C., Gruis N. A., Westendorp R. G., Vermeer B. J. et al. 2001 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.
3. Beaumont K. A., Newton R. A., Smit D. J., Leonard J. H., Stow J. L. and Sturm R. A. 2005 Altered cell surface expression of human MC1R variant receptor alleles associated with red hair and skin cancer risk. Hum. Mol. Genet. 14, 2145-2154.
4. Berger E., Hunt R., Tzu J., Patel R. and Sanchez M. 2011 Squamous-cell carcinoma in situ in a patient with oculocutaneous albinism. Dermatol. Online J. 17, 22.
5. Chaki M., Sengupta M., Mukhopadhyay A., Subba Rao I., Majumder P. P., Das M. et al. 2006 OCA1 in different ethnic groups of India is primarily due to founder mutations in the tyrosinase gene. Ann. Hum. Genet. 70, 623-630.
6. Chaki M., Sengupta M., Mondal M., Bhattacharya A., Mallick S., Bhadra R. et al. 2011 Molecular and functional studies of tyrosinase variants among Indian oculocutaneous albinism type 1 patients. J. Invest. Dermatol. 131, 260-262.
7. de Vijlder H. C., de Vijlder J. J. and Neumann H. A. 2013 Oculocutaneous albinism and skin cancer risk. J. Eur. Acad. Dermatol. Venereol. 27, e433-e434.
8. Helsing P., Nymoen D. A., Rootwelt H., Vårdal M., Akslen L. A., Molven A. et al. 2012 MC1R, ASIP, TYR, and TYRP1 gene variants in a population-based series of multiple primary melanomas. Genes Chromosomes Cancer51, 654-661.
9. King R. A., Willaert R. K., Schmidt R. M., Pietsch J., Savage S., Brott M. J. et al. 2003 MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2). Am. J. Hum. Genet. 73, 638-645.
10. Mondal M., Sengupta M., Samanta S., Sil A. and Ray K. 2012 Molecular basis of albinismin India: Evaluation of seven potential candidate genes and some new findings. Gene511, 470-474.
11. Opara K. O. and Jiburum B. C. 2010 Skin cancers in albinos in a teaching Hospital in eastern Nigeria-presentation and challenges of care. World J. Surg. Oncol. 8, 73.
12. Palmer J. S., Duffy D. L., Box N. F., Aitken J. F., O'Gorman L. E., Green A. C. et al. 2000 Melanocortin-1 receptor polymorphisms and risk of melanoma: is the association explained solely by pigmentation phenotype? Am. J. Hum. Genet. 66, 176-186.
13. Raimondi S., Sera F., Gandini S., Iodice S., Caini S., Maisonneuve P. et al. 2008 MC1R variants, melanoma and red hair color phenotype: a meta-analysis. Int. J. Cancer122, 2753-2760.
14. Ramalingam V. S., Sinnakirouchenan R. and Thappa D. M. 2009 Malignant transformation of actinic keratoses to squamous cell carcinoma in an albino. Indian J. Dermatol. 54, 46-48.
15. Rana B. K., Hewett-Emmett D., Jin L., Chang B. H., Sambuughin N., Lin M. et al. 1999 High polymorphism at the human melanocortin 1 receptor locus. Genetics151, 1547-1557.
16. Ringholm A., Klovins J., Rudzish R., Phillips S., Rees J. L. and Schioth H. B. 2004 Pharmacological characterization of loss of function mutations of the human melanocortin 1 receptor that are associated with red hair. J. Invest. Dermatol. 123, 917-923.
17. Scherer D. and Kumar R. 2010 Genetics of pigmentation in skin cancer-a review. Mutat. Res. 705, 141-153.
18. Scherer D., Bermejo J. L., Rudnai P., Gurzau E., Koppova K., Hemminki K. et al. 2008 MC1R variants associated susceptibility to basal cell carcinoma of skin: interaction with host factors and XRCC3 polymorphism. Int. J. Cancer122, 1787-1793.
19. Sengupta M., Chaki M., Arti N. and Ray K. 2007 SLC45A2 variations in Indian oculocutaneous albinism patients. Mol. Vis. 13, 1406-1411.
20. Sengupta M., Mondal M., Jaiswal P., Sinha S., Chaki M., Samanta S. et al. 2010 Comprehensive analysis of the molecular basis of oculocutaneous albinism in Indian patients lacking a mutation in the tyrosinase gene. Br. J. Dermatol. 163, 487-494.