The contribution of melanocortin 1 receptor gene polymorphisms and the agouti signalling protein gene 8818A>G polymorphism to cutaneous melanoma and basal cell carcinoma in a Polish population

Experimental Dermatology
Urszula BrudnikPiotr Kanas

Abstract

In this study, we assessed the role of melanocortin-1 receptor (MC1R) and agouti signalling protein (ASIP) polymorphisms in cutaneous melanoma and basal cell carcinoma (BCC) development in a Polish population. We enrolled 108 patients with skin malignant melanoma (MM) and 102 patients with BCC. The control group consisted of 93 non-red haired patients, without history of skin cancers and 30 healthy individuals with red hair colour (RHC) phenotype. The complete MC1R exon was sequenced and the A8818G polymorphism of the ASIP gene was analysed using the SnaPshot protocol. Selected MC1R mutations were additionally examined using a convenient minisequencing assay. The study confirmed the important role of MC1R R variants in determining physiological variation in hair and skin colour. Our data show that individuals with R mutations had a 3.7-fold increase in melanoma risk and a 3.3-fold increase in BCC risk. Especially, variant R151C significantly increased the risk of both MM and BCC. The studied ASIP polymorphism was found not to be associated with MM or BCC. Stratified analysis showed that the association between MC1R mutations and the risk of MM and BCC was not significantly influenced by subjects' pigmentation characteristics or...Continue Reading

References

Sep 23, 2008·Journal of Human Genetics·Wojciech BranickiAnna Wojas-Pelc
Feb 12, 2009·Annals of Human Genetics·Wojciech BranickiAnna Wojas-Pelc
Jan 5, 2011·Human Genetics·Wojciech BranickiM Kayser
Jul 6, 2010·Mutation Research·Dominique Scherer, R Kumar
Mar 27, 2009·Experimental Dermatology·Lara P FernandezGloria Ribas
Apr 20, 2012·The Journal of Dermatology·Agnieszka Kosiniak-KamyszWojciech Branicki
May 26, 2012·International Journal of Cancer. Journal International Du Cancer·Livia MaccioniR Kumar
Nov 26, 2010·Animal Genetics·R R Bellone
Dec 4, 2010·International Journal of Cancer. Journal International Du Cancer·Patricia F WilliamsDavid C Whiteman
Mar 13, 2014·The Journal of Dermatology·Junko YoshizawaTamio Suzuki
Jun 16, 2010·The Australasian Journal of Dermatology·Sally E de Zwaan, Nikolas K Haass
Jan 26, 2010·Actas dermo-sifiliográficas·M G KosmadakiA Katsambas
Jun 12, 2014·International Journal of Cancer. Journal International Du Cancer·Elena PasqualiM-SKIP Study Group
Jun 24, 2015·British Journal of Cancer·E TagliabueM-SKIP Study Group
Jul 2, 2014·BioMed Research International·Hui-Han HuNadem Soufir
Jan 22, 2011·Photochemical & Photobiological Sciences : Official Journal of the European Photochemistry Association and the European Society for Photobiology·M NorvalJ C van der Leun

Citations

Mar 1, 1986·The Journal of Investigative Dermatology·N S RanadiveI A Menon
Oct 1, 1996·Human Molecular Genetics·P ValverdeJonathan Laurence Rees
Jun 1, 1997·The Journal of Investigative Dermatology·I SuzukiZ A Abdel-Malek
Jul 17, 1998·The Journal of Investigative Dermatology·R SmithJonathan Laurence Rees
Aug 12, 1998·The Journal of Investigative Dermatology·F Ichii-JonesR C Strange
Apr 25, 2000·Journal of the American Academy of Dermatology·M Piepkorn
Jul 8, 2000·Pigment Cell Research·Jonathan Laurence Rees
Aug 5, 2000·Cancer·G Cohn-CedermarkU Ringborg
Oct 13, 2000·Human Molecular Genetics·N FlanaganJonathan Laurence Rees
Feb 17, 2001·The Journal of Investigative Dermatology·N F BoxR A Sturm
Mar 20, 2001·American Journal of Human Genetics·M BastiaensLeiden Skin Cancer Study Team
Aug 14, 2001·American Journal of Human Genetics·N F BoxNicholas K Hayward
Feb 8, 2002·American Journal of Human Genetics·P A KanetskyTimothy Rebbeck
Feb 12, 2002·Pigment Cell Research·Joanne Voisey, Angela van Daal
Jun 20, 2002·Journal of the National Cancer Institute·D Timothy BishopMelanoma Genetics Consortium
Oct 24, 2002·Melanoma Research·R A Sturm
Jul 10, 2003·Annals of the New York Academy of Sciences·R A SturmN G Martin
Jul 24, 2003·Annals of Epidemiology·Andreas Stang, Karl Heinz Jöckel
Mar 11, 2004·The Journal of Investigative Dermatology·Hensin TsaoFrank G Haluska
Jun 29, 2004·Human Mutation·Lorenza PastorinoGiovanna Bianchi Scarra
Oct 7, 2004·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Kenneth Y Tsai, Hensin Tsao
Nov 3, 2004·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·Esther de Vries, Jan Willem Coebergh
Jan 20, 2005·The British Journal of Dermatology·J ReifenbergerG Reifenberger
Apr 29, 2005·Journal of the European Academy of Dermatology and Venereology : JEADV·T NijstenM Garmyn
May 11, 2005·Drugs of Today·Julia A Newton Bishop, D Timothy Bishop
May 17, 2005·Pigment Cell Research·Alison HennessyJonathan Laurence Rees
Jul 7, 2005·Journal of the National Cancer Institute·M T LandiRuth M Pfeiffer
Apr 8, 2006·The Journal of Investigative Dermatology·Alexander StratigosA Katsambas
Feb 24, 2007·Journal of Forensic Sciences·Wojciech BranickiAnna Wojas-Pelc

Related Concepts

Malignant Neoplasm of Skin
Gene Polymorphism
Melanoma, Cutaneous Malignant,1
MC1R Protein
Exons
ASIP protein, human
Cutaneous Melanoma
Basal Cell Carcinoma Pathway
Gene Products, Protein
PARD3 gene

Related Feeds

Carcinoma, Basal Cell

Basal cell carcinoma is a form of malignant skin cancer found on the head and neck regions and has low rates of metastasis. Discover the latest research on basal cell carcinoma here.