Melanocortin-1 receptor genotype is a risk factor for basal and squamous cell carcinoma

The Journal of Investigative Dermatology
N F BoxR A Sturm

Abstract

MC1R gene variants have previously been associated with red hair and fair skin color, moreover skin ultraviolet sensitivity and a strong association with melanoma has been demonstrated for three variant alleles that are active in influencing pigmentation: Arg151Cys, Arg160Trp, and Asp294His. This study has confirmed these pigmentary associations with MC1R genotype in a collection of 220 individuals drawn from the Nambour community in Queensland, Australia, 111 of whom were at high risk and 109 at low risk of basal cell carcinoma and squamous cell carcinoma. Comparative allele frequencies for nine MC1R variants that have been reported in the Caucasian population were determined for these two groups, and an association between prevalence of basal cell carcinoma, squamous cell carcinoma, solar keratosis and the same three active MC1R variant alleles was demonstrated [odds ratio = 3.15 95% CI (1.7, 5.82)]. Three other commonly occurring variant alleles: Val60Leu, Val92Met, and Arg163Gln were identified as having a minimal impact on pigmentation phenotype as well as basal cell carcinoma and squamous cell carcinoma risk. A significant heterozygote effect was demonstrated where individuals carrying a single MC1R variant allele were mo...Continue Reading

References

May 20, 2008·Nature Genetics·Daniel F GudbjartssonKari Stefansson
Sep 29, 2011·Nature Genetics·Simon N StaceyKari Stefansson
Sep 25, 2008·Nature Reviews. Cancer·Ervin H Epstein
Dec 7, 2006·Journal of Cosmetic Dermatology·Thomas Ha, J L Rees
Mar 5, 2002·Genome Research·Pauline C Ng, Steven Henikoff
Jun 16, 2010·Pigment Cell & Melanoma Research·Meg R GerstenblithMaria Teresa Landi
Oct 16, 2009·Journal of Translational Medicine·Giuseppe PalmieriPaolo A Ascierto
Aug 1, 2006·Vojnosanitetski pregled. Military-medical and pharmaceutical review·Natasa MaksimovićJanko Janković
Jun 1, 2014·Archives of Pathology & Laboratory Medicine·Stefan Kraft, Scott R Granter
Jan 19, 2016·Journal of the American Academy of Dermatology·Aneta SitekBogusław Antoszewski
Apr 10, 2012·Seminars in Oncology·Ragini KudchadkarRene Gonzalez
Dec 15, 2007·The Journal of Investigative Dermatology·Tomonori MotokawaTakayuki Katagiri
Jan 5, 2011·European Journal of Pharmacology·Kimberley A BeaumontR A Sturm
Nov 26, 2009·International Journal of Radiation Oncology, Biology, Physics·Gerald B FogartyMichael J McKay
Jun 2, 2009·Medical Hypotheses·Katy Sterling-Levis, Katrina Williams
Dec 14, 2011·The Journal of Investigative Dermatology·Leah M FerrucciSusan T Mayne
Nov 20, 2009·The Journal of Investigative Dermatology·Anissa ElfakirChristiane Guinot
Mar 20, 2010·The Journal of Investigative Dermatology·Samantha RobinsonEugene Healy
Jan 22, 2003·The Journal of Investigative Dermatology·Eric AlamartineFrançois Berthoux
Apr 8, 2006·The Journal of Investigative Dermatology·Alexander J StratigosAndreas D Katsambas
Apr 29, 2006·The Journal of Investigative Dermatology·Muriel LiboutetNadem Soufir
Mar 11, 2004·The Journal of Investigative Dermatology·L NaysmithJ L Rees
Jun 10, 2008·European Journal of Medical Genetics·Yann Le Brun KerisJames Lespinasse
Sep 22, 2007·Journal of Genetics and Genomics = Yi Chuan Xue Bao·Guiling DunLanhui Li
Feb 2, 2016·The Journal of Investigative Dermatology·Maryam M AsgariAlice S Whittemore
Nov 10, 2004·Photodermatology, Photoimmunology & Photomedicine·Eugene Healy
May 13, 2005·The British Journal of Dermatology·A AsplundF Pontén
Sep 3, 2003·Pigment Cell Research·Jesús Sánchez MásJosé Carlos García-Borrón
Jul 10, 2003·Annals of the New York Academy of Sciences·Ana Luisa KadekaroZ Abdel-Malek
Aug 7, 2009·Photochemistry and Photobiology·Geneviève GarcinLaurent Meunier
May 20, 2003·Pigment Cell Research·R A SturmN G Martin

Citations

Jul 9, 1991·International Journal of Cancer. Journal International Du Cancer·A KrickerP J Heenan
Apr 1, 1990·The British Journal of Dermatology·R Marks
Jul 1, 1990·The British Journal of Dermatology·A Green, N G Martin
Sep 15, 1990·International Journal of Cancer. Journal International Du Cancer·A Green, D Battistutta
Dec 1, 1988·Journal of the American Academy of Dermatology·A GreenD Staines
Feb 11, 1988·Nucleic Acids Research·S A MillerH F Polesky
Mar 1, 1985·Proceedings of the National Academy of Sciences of the United States of America·W I WoodR M Lawn
Aug 1, 1994·Journal of Clinical Epidemiology·Q WeiL Grossman
May 8, 1998·Biochemical and Biophysical Research Communications·P A FrändbergV Chhájlani
Jun 4, 1998·International Journal of Cancer. Journal International Du Cancer·D R EnglishP L Randell
Jul 15, 1998·International Journal of Cancer. Journal International Du Cancer·D R EnglishP L Randell
Jul 17, 1998·The Journal of Investigative Dermatology·R SmithJ L Rees
Nov 20, 1998·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·R A SturmM Ramsay
Jan 7, 1999·Pigment Cell Research·A J Thody, A Graham
May 11, 1999·Brain Research. Brain Research Protocols·S O Suzuki, T Iwaki
May 18, 1999·QJM : Monthly Journal of the Association of Physicians·J L Rees, N Flanagan
May 26, 1999·Clinica Chimica Acta; International Journal of Clinical Chemistry·F I JonesR C Strange
Jul 15, 1999·Biochemical and Biophysical Research Communications·H B SchiöthJ L Rees
Oct 28, 1999·The Journal of Investigative Dermatology. Symposium Proceedings·I SuzukiZ Abdel-Malek
Nov 30, 1999·Pigment Cell Research·M T BastiaensJ N Bavinck
Jan 11, 2000·QJM : Monthly Journal of the Association of Physicians·I J Loefler
Aug 22, 2000·The Journal of Investigative Dermatology·C FrostA Green
May 1, 1996·Environmental Monitoring and Assessment·O Roots, L Saare

Related Concepts

Malignant Neoplasm of Skin
MC1R Protein
Keratosis
Basal Cell Carcinoma Pathway
Corticotropin Receptors
Pigmented Basal Cell Carcinoma
Melanoma vaccine
Squamous Cell Carcinoma
Melanocortin receptor
Carcinoma

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