Variant ID: 16-89986117-C-T

NM_002386.3(MC1R):c.451C>T;(p.Arg151Cys)

This variant was identified in 378 publications




Publications:


Familial Melanoma and Susceptibility Genes: A Review of the Most Common Clinical and Dermoscopic Phenotypic Aspect, Associated Malignancies and Practical Tips for Management.

Journal Of Clinical Medicine
L Zocchi, A Lontano, M Merli, E Dika, E Nagore, P Quaglino, S Puig, S Ribero
Publication Date: 2021-08-23

Variant appearance in text: MC1R: R151C
PubMed Link: 34442055
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dermatologic Applications of Polypodium leucotomos: A Literature Review.

The Journal Of Clinical And Aesthetic Dermatology
K Segars, V McCarver, RA Miller
Publication Date: 2021-02

Variant appearance in text: MC1R: R151C
PubMed Link: 34221229
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



The protective role of MC1R in chromosome stability and centromeric integrity in melanocytes.

Cell Death Discovery
X Li, W Mao, J Chen, CR Goding, R Cui, ZX Xu, X Miao
Publication Date: 2021-05-18

Variant appearance in text: MC1R: R151C
PubMed Link: 34001865
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic ancestry, skin pigmentation, and the risk of cutaneous squamous cell carcinoma in Hispanic/Latino and non-Hispanic white populations.

Communications Biology
E Jorgenson, H Choquet, J Yin, TJ Hoffmann, Y Banda, MN Kvale, N Risch, C Schaefer, MM Asgari
Publication Date: 2020-12-14

Variant appearance in text: rs1805007
PubMed Link: 33318654
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Alterations in the INK4a/ARF Locus: Effects on Melanoma Development and Progression.

Biomolecules
Z Ming, SY Lim, H Rizos
Publication Date: 2020-10-15

Variant appearance in text: MC1R: Arg151Cys
PubMed Link: 33076392
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Links between Parkinson's Disease and Cancer.

Biomedicines
M Ejma, N Madetko, A Brzecka, K Guranski, P Alster, M Misiuk-Hojło, SG Somasundaram, CE Kirkland, G Aliev
Publication Date: 2020-10-14

Variant appearance in text: MC1R: R151C
PubMed Link: 33066407
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Iris Colour and the Risk of Developing Uveal Melanoma.

International Journal Of Molecular Sciences
LE Houtzagers, APA Wierenga, AAM Ruys, GPM Luyten, MJ Jager
Publication Date: 2020-09-28

Variant appearance in text: MC1R: Arg151Cys
PubMed Link: 32998469
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



MC1R variants in relation to naevi in melanoma cases and controls: a pooled analysis from the M-SKIP project.

Journal Of The European Academy Of Dermatology And Venereology : Jeadv
I Stefanaki, AJ Stratigos, KP Kypreou, E Evangelou, S Gandini, P Maisonneuve, D Polsky, D Lazovich, J Newton-Bishop, PA Kanetsky, S Puig, NA Gruis, P Ghiorzo, C Pellegrini, A De Nicolo, G Ribas, G Guida, JC Garcia-Borron, MC Fargnoli, H Nan, MT Landi, J Little, F Sera, S Raimondi,
Publication Date: 2020-08-11

Variant appearance in text: MC1R: R151C
PubMed Link: 32780924
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



MC1R variants and associations with pigmentation characteristics and genetic ancestry in a Hispanic, predominately Puerto Rican, population.

Scientific Reports
AK Smit, M Collazo-Roman, ST Vadaparampil, S Valavanis, J Del Rio, B Soto, I Flores, J Dutil, PA Kanetsky
Publication Date: 2020-04-29

Variant appearance in text: MC1R: R151C; rs1805007
PubMed Link: 32350296
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • Supplemental file
View BVdb publication page



Melanoma Risk and Melanocyte Biology.

Acta Dermato-Venereologica
JU Bertrand, E Steingrimsson, F Jouenne, B Bressac-de Paillerets, L Larue
Publication Date: 2020-06-03

Variant appearance in text: MC1R: R151C
PubMed Link: 32346747
PubMed Central Link
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.

Nature Genetics
MT Landi, DT Bishop, S MacGregor, MJ Machiela, AJ Stratigos, P Ghiorzo, M Brossard, D Calista, J Choi, MC Fargnoli, T Zhang, M Rodolfo, AJ Trower, C Menin, J Martinez, A Hadjisavvas, L Song, I Stefanaki, R Scolyer, R Yang, AM Goldstein, M Potrony, KP Kypreou, L Pastorino, P Queirolo, C Pellegrini, L Cattaneo, M Zawistowski, P Gimenez-Xavier, A Rodriguez, L Elefanti, S Manoukian, L Rivoltini, BH Smith, MA Loizidou, L Del Regno, D Massi, M Mandala, K Khosrotehrani, LA Akslen, CI Amos, PA Andresen, MF Avril, E Azizi, HP Soyer, V Bataille, B Dalmasso, LM Bowdler, KP Burdon, WV Chen, V Codd, JE Craig, T Dębniak, M Falchi, S Fang, E Friedman, S Simi, P Galan, Z Garcia-Casado, EM Gillanders, S Gordon, A Green, NA Gruis, J Hansson, M Harland, J Harris, P Helsing, A Henders, M Hočevar, V Höiom, D Hunter, C Ingvar, R Kumar, J Lang, GM Lathrop, JE Lee, X Li, J Lubiński, RM Mackie, M Malt, J Malvehy, K McAloney, H Mohamdi, A Molven, EK Moses, RE Neale, S Novaković, DR Nyholt, H Olsson, N Orr, LG Fritsche, JA Puig-Butille, AA Qureshi, GL Radford-Smith, J Randerson-Moor, C Requena, C Rowe, NJ Samani, M Sanna, D Schadendorf, HJ Schulze, LA Simms, M Smithers, F Song, AJ Swerdlow, N van der Stoep, NA Kukutsch, A Visconti, L Wallace, SV Ward, L Wheeler, RA Sturm, A Hutchinson, K Jones, M Malasky, A Vogt, W Zhou, KA Pooley, DE Elder, J Han, B Hicks, NK Hayward, PA Kanetsky, C Brummett, GW Montgomery, CM Olsen, C Hayward, AM Dunning, NG Martin, E Evangelou, GJ Mann, G Long, PDP Pharoah, DF Easton, JH Barrett, AE Cust, G Abecasis, DL Duffy, DC Whiteman, H Gogas, A De Nicolo, MA Tucker, JA Newton-Bishop, , , , , , , , , , K Peris, SJ Chanock, F Demenais, KM Brown, S Puig, E Nagore, J Shi, MM Iles, MH Law
Publication Date: 2020-05

Variant appearance in text: rs1805007
PubMed Link: 32341527
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association Between Parkinson's Disease and Melanoma: Putting the Pieces Together.

Frontiers In Aging Neuroscience
Q Ye, Y Wen, N Al-Kuwari, X Chen
Publication Date: 2020

Variant appearance in text: MC1R: R151C
PubMed Link: 32210791
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • fnagi-12-00060.pdf
View BVdb publication page



Prostate cancer risk in patients with melanoma: A systematic review and meta-analysis.

Cancer Medicine
P Acharya, M Mathur
Publication Date: 2020-05

Variant appearance in text: rs1805007
PubMed Link: 32175697
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Environmental UVR Levels and Skin Pigmentation Gene Variants Associated with Folate and Homocysteine Levels in an Elderly Cohort.

International Journal Of Environmental Research And Public Health
P Jones, M Lucock, CJ Scarlett, M Veysey, E Beckett
Publication Date: 2020-02-28

Variant appearance in text: rs1805007
PubMed Link: 32121219
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Therapeutic senescence via GPCR activation in synovial fibroblasts facilitates resolution of arthritis.

Nature Communications
T Montero-Melendez, A Nagano, C Chelala, A Filer, CD Buckley, M Perretti
Publication Date: 2020-02-06

Variant appearance in text: MC1R: R151C
PubMed Link: 32029712
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Y-chromosome haplogroups from Hun, Avar and conquering Hungarian period nomadic people of the Carpathian Basin.

Scientific Reports
E Neparáczki, Z Maróti, T Kalmár, K Maár, I Nagy, D Latinovics, Á Kustár, G Pálfi, E Molnár, A Marcsik, C Balogh, G Lőrinczy, SS Gál, P Tomka, B Kovacsóczy, L Kovács, I Raskó, T Török
Publication Date: 2019-11-12

Variant appearance in text: rs1805007
PubMed Link: 31719606
PubMed Central Link
Variant Present in the following documents:
  • 41598_2019_53105_MOESM2_ESM.xlsx
View BVdb publication page



The complementary effect of rs1042522 in TP53 and rs1805007 in MC1R is associated with an elevated risk of cutaneous melanoma in Latvian population.

Oncology Letters
A Ozola, D Ruklisa, D Pjanova
Publication Date: 2019-11

Variant appearance in text: MC1R: 451C>T; Arg151Cys; rs1805007
PubMed Link: 31612033
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • ol-18-05-5225.pdf
View BVdb publication page



Distinct genetic variation and heterogeneity of the Iranian population.

Plos Genetics
Z Mehrjoo, Z Fattahi, M Beheshtian, M Mohseni, H Poustchi, F Ardalani, K Jalalvand, S Arzhangi, Z Mohammadi, S Khoshbakht, F Najafi, P Nikuei, M Haddadi, E Zohrehvand, M Oladnabi, A Mohammadzadeh, MH Jafari, T Akhtarkhavari, ES Gooshki, A Haghdoost, R Najafipour, LM Niestroj, B Helwing, Y Gossmann, MR Toliat, R Malekzadeh, P Nürnberg, K Kahrizi, H Najmabadi, M Nothnagel
Publication Date: 2019-09

Variant appearance in text: rs1805007
PubMed Link: 31550250
PubMed Central Link
Variant Present in the following documents:
  • pgen.1008385.s029.xlsx
View BVdb publication page



"The dead shall be raised": Multidisciplinary analysis of human skeletons reveals complexity in 19th century immigrant socioeconomic history and identity in New Haven, Connecticut.

Plos One
GP Aronsen, L Fehren-Schmitz, J Krigbaum, GD Kamenov, GJ Conlogue, C Warinner, AT Ozga, K Sankaranarayanan, A Griego, DW DeLuca, HT Eckels, RK Byczkiewicz, T Grgurich, NA Pelletier, SA Brownlee, A Marichal, K Williamson, Y Tonoike, NF Bellantoni
Publication Date: 2019

Variant appearance in text: rs1805007
PubMed Link: 31498793
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • pone.0219279.pdf
View BVdb publication page



MC1R Variation in a New Mexico Population.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
KAM White, YT Dailey, DD Guest, K Zielaskowski, E Robers, A Sussman, K Hunley, CR Hughes, MR Schwartz, KA Kaphingst, DB Buller, JL Hay, M Berwick
Publication Date: 2019-11

Variant appearance in text: MC1R: R151C
PubMed Link: 31488411
PubMed Central Link
Variant Present in the following documents:
  • NIHMS1539221-supplement-2.docx
  • Main text
View BVdb publication page



Germline and somatic mutations in patients with multiple primary melanomas: a next generation sequencing study.

Bmc Cancer
M Casula, P Paliogiannis, F Ayala, V De Giorgi, I Stanganelli, M Mandalà, M Colombino, A Manca, MC Sini, C Caracò, PA Ascierto, RR Satta, , A Lissia, A Cossu, G Palmieri,
Publication Date: 2019-08-05

Variant appearance in text: MC1R: R151C
PubMed Link: 31382929
PubMed Central Link
Variant Present in the following documents:
  • 12885_2019_5984_MOESM1_ESM.pdf
  • Main text
  • 12885_2019_Article_5984.pdf
View BVdb publication page



Plasticity of Drug-Naïve and Vemurafenib- or Trametinib-Resistant Melanoma Cells in Execution of Differentiation/Pigmentation Program.

Journal Of Oncology
M Czyz, M Sztiller-Sikorska, A Gajos-Michniewicz, M Osrodek, ML Hartman
Publication Date: 2019

Variant appearance in text: MC1R: R151C; rs1805007
PubMed Link: 31354817
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



On estimating evolutionary probabilities of population variants.

Bmc Evolutionary Biology
R Patel, S Kumar
Publication Date: 2019-06-25

Variant appearance in text: rs1805007
PubMed Link: 31238981
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Protein ensembles link genotype to phenotype.

Plos Computational Biology
R Nussinov, CJ Tsai, H Jang
Publication Date: 2019-06

Variant appearance in text: MC1R: R151C; rs1805007
PubMed Link: 31220071
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genes for Good: Engaging the Public in Genetics Research via Social Media.

American Journal Of Human Genetics
K Brieger, GJM Zajac, A Pandit, JR Foerster, KW Li, AC Annis, EM Schmidt, CP Clark, K McMorrow, W Zhou, J Yang, AM Kwong, AP Boughton, J Wu, C Scheller, T Parikh, A de la Vega, DM Brazel, M Frieser, G Rea-Sandin, LG Fritsche, SI Vrieze, GR Abecasis
Publication Date: 2019-07-03

Variant appearance in text: rs1805007
PubMed Link: 31204010
PubMed Central Link
Variant Present in the following documents:
  • mmc2.xlsx
View BVdb publication page



Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

Human Molecular Genetics
UE Liyanage, MH Law, X Han, J An, JS Ong, P Gharahkhani, S Gordon, RE Neale, CM Olsen, , S MacGregor, DC Whiteman
Publication Date: 2019-09-15

Variant appearance in text: rs1805007
PubMed Link: 31174203
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • ddz121.pdf
View BVdb publication page



Germline Variants Impact Somatic Events during Tumorigenesis.

Trends In Genetics : Tig
JR Ramroop, MM Gerber, AE Toland
Publication Date: 2019-07

Variant appearance in text: MC1R: R151C
PubMed Link: 31128889
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inherited MC1R variants in patients with melanoma are associated with better survival in women.

The British Journal Of Dermatology
FE Lira, S Podlipnik, M Potrony, G Tell-Martí, N Calbet-Llopart, A Barreiro, C Carrera, J Malvehy, S Puig
Publication Date: 2020-01

Variant appearance in text: MC1R: R151C
PubMed Link: 31016712
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • BJD-182-138.pdf
View BVdb publication page



Prediction of skin color, tanning and freckling from DNA in Polish population: linear regression, random forest and neural network approaches.

Human Genetics
K Zaorska, P Zawierucha, M Nowicki
Publication Date: 2019-06

Variant appearance in text: rs1805007
PubMed Link: 30980179
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



MC1R variants in childhood and adolescent melanoma: a retrospective pooled analysis of a multicentre cohort.

The Lancet. Child & Adolescent Health
C Pellegrini, F Botta, D Massi, C Martorelli, F Facchetti, S Gandini, P Maisonneuve, MF Avril, F Demenais, B Bressac-de Paillerets, V Hoiom, AE Cust, H Anton-Culver, SB Gruber, RP Gallagher, L Marrett, R Zanetti, T Dwyer, NE Thomas, CB Begg, M Berwick, S Puig, M Potrony, E Nagore, P Ghiorzo, C Menin, AM Manganoni, M Rodolfo, S Brugnara, E Passoni, LK Sekulovic, F Baldini, G Guida, A Stratigos, F Ozdemir, F Ayala, R Fernandez-de-Misa, P Quaglino, G Ribas, A Romanini, E Migliano, I Stanganelli, PA Kanetsky, MA Pizzichetta, JC García-Borrón, H Nan, MT Landi, J Little, J Newton-Bishop, F Sera, MC Fargnoli, S Raimondi, , ,
Publication Date: 2019-05

Variant appearance in text: MC1R: R151C
PubMed Link: 30872112
PubMed Central Link
Variant Present in the following documents:
  • NIHMS1545862-supplement-1.pdf
  • Main text
  • nihms-1545862.pdf
View BVdb publication page



cAMP-mediated regulation of melanocyte genomic instability: A melanoma-preventive strategy.

Advances In Protein Chemistry And Structural Biology
NC Holcomb, RM Bautista, SG Jarrett, KM Carter, MK Gober, JA D'Orazio
Publication Date: 2019

Variant appearance in text: MC1R: R151C
PubMed Link: 30798934
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Targeting MC1R depalmitoylation to prevent melanomagenesis in redheads.

Nature Communications
S Chen, C Han, X Miao, X Li, C Yin, J Zou, M Liu, S Li, L Stawski, B Zhu, Q Shi, ZX Xu, C Li, CR Goding, J Zhou, R Cui
Publication Date: 2019-02-20

Variant appearance in text: MC1R: R151C
PubMed Link: 30787281
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Familial Melanoma: Diagnostic and Management Implications.

Dermatology Practical & Conceptual
M Rossi, C Pellegrini, L Cardelli, V Ciciarelli, L Di Nardo, MC Fargnoli
Publication Date: 2019-01

Variant appearance in text: MC1R: R151C
PubMed Link: 30775140
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Candidate gene analyses for acute pain and morphine analgesia after pediatric day surgery: African American versus European Caucasian ancestry and dose prediction limits.

The Pharmacogenomics Journal
J Li, Z Wei, J Zhang, H Hakonarson, SD Cook-Sather
Publication Date: 2019-12

Variant appearance in text: MC1R: Arg151Cys; rs1805007
PubMed Link: 30760877
PubMed Central Link
Variant Present in the following documents:
  • nihms-1517353.pdf
  • Main text
  • NIHMS1517353-supplement-1.pdf
View BVdb publication page



Genome-Wide Association Studies Identify Multiple Genetic Loci Influencing Eyebrow Color Variation in Europeans.

The Journal Of Investigative Dermatology
F Peng, G Zhu, PG Hysi, RJ Eller, Y Chen, Y Li, MA Hamer, C Zeng, RL Hopkins, CL Jacobus, PL Wallace, AG Uitterlinden, MA Ikram, T Nijsten, DL Duffy, SE Medland, TD Spector, S Walsh, NG Martin, F Liu, M Kayser,
Publication Date: 2019-07

Variant appearance in text: rs1805007
PubMed Link: 30703357
PubMed Central Link
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Host genetic variants in sepsis risk: a field synopsis and meta-analysis.

Critical Care (London, England)
H Lu, D Wen, X Wang, L Gan, J Du, J Sun, L Zeng, J Jiang, A Zhang
Publication Date: 2019-01-25

Variant appearance in text: rs1805007
PubMed Link: 30683156
PubMed Central Link
Variant Present in the following documents:
  • 13054_2019_2313_MOESM2_ESM.xls
  • 13054_2019_2313_MOESM3_ESM.docx
View BVdb publication page



A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia.

Nature Communications
K Adhikari, J Mendoza-Revilla, A Sohail, M Fuentes-Guajardo, J Lampert, JC Chacón-Duque, M Hurtado, V Villegas, V Granja, V Acuña-Alonzo, C Jaramillo, W Arias, RB Lozano, P Everardo, J Gómez-Valdés, H Villamil-Ramírez, CC Silva de Cerqueira, T Hunemeier, V Ramallo, L Schuler-Faccini, FM Salzano, R Gonzalez-José, MC Bortolini, S Canizales-Quinteros, C Gallo, G Poletti, G Bedoya, F Rothhammer, DJ Tobin, M Fumagalli, D Balding, A Ruiz-Linares
Publication Date: 2019-01-21

Variant appearance in text: rs1805007
PubMed Link: 30664655
PubMed Central Link
Variant Present in the following documents:
  • 41467_2018_8147_MOESM1_ESM.pdf
View BVdb publication page



A study in scarlet: MC1R as the main predictor of red hair and exemplar of the flip-flop effect.

Human Molecular Genetics
K Zorina-Lichtenwalter, RN Lichtenwalter, DV Zaykin, M Parisien, S Gravel, A Bortsov, L Diatchenko
Publication Date: 2019-06-15

Variant appearance in text: MC1R: R151C; rs1805007
PubMed Link: 30657907
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Risk Factors of Subsequent Primary Melanomas in Austria.

Jama Dermatology
C Müller, J Wendt, S Rauscher, R Sunder-Plassmann, E Richtig, I Fae, G Fischer, I Okamoto
Publication Date: 2019-02-01

Variant appearance in text: MC1R: R151C
PubMed Link: 30566178
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.

Nature Communications
MD Morgan, E Pairo-Castineira, K Rawlik, O Canela-Xandri, J Rees, D Sims, A Tenesa, IJ Jackson
Publication Date: 2018-12-10

Variant appearance in text: MC1R: R151C; rs1805007
PubMed Link: 30531825
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Non-genetic and genetic predictors of a superficial first basal cell carcinoma.

Journal Of The European Academy Of Dermatology And Venereology : Jeadv
JAC Verkouteren, LM Pardo, AG Uitterlinden, T Nijsten
Publication Date: 2019-03

Variant appearance in text: rs1805007
PubMed Link: 30520188
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Ancient Fennoscandian genomes reveal origin and spread of Siberian ancestry in Europe.

Nature Communications
TC Lamnidis, K Majander, C Jeong, E Salmela, A Wessman, V Moiseyev, V Khartanovich, O Balanovsky, M Ongyerth, A Weihmann, A Sajantila, J Kelso, S Pääbo, P Onkamo, W Haak, J Krause, S Schiffels
Publication Date: 2018-11-27

Variant appearance in text: rs1805007
PubMed Link: 30479341
PubMed Central Link
Variant Present in the following documents:
  • 41467_2018_7483_MOESM5_ESM.xlsx
View BVdb publication page



Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.

Nature Communications
DL Duffy, G Zhu, X Li, M Sanna, MM Iles, LC Jacobs, DM Evans, S Yazar, J Beesley, MH Law, P Kraft, A Visconti, JC Taylor, F Liu, MJ Wright, AK Henders, L Bowdler, D Glass, MA Ikram, AG Uitterlinden, PA Madden, AC Heath, EC Nelson, AC Green, S Chanock, JH Barrett, MA Brown, NK Hayward, S MacGregor, RA Sturm, AW Hewitt, , M Kayser, DJ Hunter, JA Newton Bishop, TD Spector, GW Montgomery, DA Mackey, GD Smith, TE Nijsten, DT Bishop, V Bataille, M Falchi, J Han, NG Martin
Publication Date: 2018-11-14

Variant appearance in text: rs1805007
PubMed Link: 30429480
PubMed Central Link
Variant Present in the following documents:
  • 41467_2018_6649_MOESM1_ESM.pdf
View BVdb publication page



Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.

International Journal Of Cancer
TP Potjer, S Bollen, AJEM Grimbergen, R van Doorn, NA Gruis, CJ van Asperen, FJ Hes, N van der Stoep,
Publication Date: 2019-05-15

Variant appearance in text: MC1R: 451C>T; R151C
PubMed Link: 30414346
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene expression imputation identifies candidate genes and susceptibility loci associated with cutaneous squamous cell carcinoma.

Nature Communications
NM Ioannidis, W Wang, NA Furlotte, DA Hinds, , CD Bustamante, E Jorgenson, MM Asgari, AS Whittemore
Publication Date: 2018-10-15

Variant appearance in text: rs1805007
PubMed Link: 30323283
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



MC1R gene polymorphisms are associated with dysfunctional immune responses and wound infection after burn injury.

The Journal Of Surgical Research
DW Carter, RF Sood, ME Seaton, LA Muffley, S Honari, AM Hocking, SA Arbabi, NS Gibran
Publication Date: 2018-11

Variant appearance in text: MC1R: R151C; rs1805007
PubMed Link: 30278967
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Protein palmitoylation and cancer.

Embo Reports
PJ Ko, SJ Dixon
Publication Date: 2018-10

Variant appearance in text: MC1R: R151C
PubMed Link: 30232163
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic polymorphisms may influence the vertical growth rate of melanoma.

Journal Of Cancer
M Sikora, L Rudnicka, B Borkowska, A Kardynał, M Słowińska, A Rakowska, O Warszawik-Hendzel, A Wiergowska, I Ługowska, P Rutkowski, T Dębniak, J Lubiński, M Olszewska
Publication Date: 2018

Variant appearance in text: MC1R: R151C; rs1805007
PubMed Link: 30210630
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical and Biological Characterization of Skin Pigmentation Diversity and Its Consequences on UV Impact.

International Journal Of Molecular Sciences
S Del Bino, C Duval, F Bernerd
Publication Date: 2018-09-08

Variant appearance in text: rs1805007
PubMed Link: 30205563
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



MC1R: Front and Center in the Bright Side of Dark Eumelanin and DNA Repair.

International Journal Of Molecular Sciences
VB Swope, ZA Abdel-Malek
Publication Date: 2018-09-08

Variant appearance in text: MC1R: R151C
PubMed Link: 30205559
PubMed Central Link
Variant Present in the following documents:
  • Main text
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Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.

Journal Of Medical Genetics
I Galván-Femenía, M Obón-Santacana, D Piñeyro, M Guindo-Martinez, X Duran, A Carreras, R Pluvinet, J Velasco, L Ramos, S Aussó, JM Mercader, L Puig, M Perucho, D Torrents, V Moreno, L Sumoy, R de Cid
Publication Date: 2018-11

Variant appearance in text: rs1805007
PubMed Link: 30166351
PubMed Central Link
Variant Present in the following documents:
  • Main text
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Pigmentation phototype and prostate and breast cancer in a select Spanish population-A Mendelian randomization analysis in the MCC-Spain study.

Plos One
I Gómez-Acebo, T Dierssen-Sotos, C Palazuelos, P Fernández-Navarro, G Castaño-Vinyals, J Alonso-Molero, C Urtiaga, T Fernández-Villa, E Ardanaz, M Rivas-Del-Fresno, A Molina-Barceló, JJ Jiménez-Moleón, L García-Martinez, P Amiano, P Rodriguez-Cundin, V Moreno, B Pérez-Gómez, N Aragonés, M Kogevinas, M Pollán, J Llorca
Publication Date: 2018

Variant appearance in text: rs1805007
PubMed Link: 30106959
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • pone.0201750.s001.docx
  • pone.0201750.s002.docx
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Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity.

Breast Cancer Research : Bcr
J Penkert, G Schmidt, W Hofmann, S Schubert, M Schieck, B Auber, T Ripperger, K Hackmann, M Sturm, H Prokisch, U Hille-Betz, D Mark, T Illig, B Schlegelberger, D Steinemann
Publication Date: 2018-08-07

Variant appearance in text: rs1805007
PubMed Link: 30086788
PubMed Central Link
Variant Present in the following documents:
  • 13058_2018_1011_MOESM1_ESM.docx
View BVdb publication page



Bayesian Network Construction and Genotype-Phenotype Inference Using GWAS Statistics.

Ieee/Acm Transactions On Computational Biology And Bioinformatics
L Zhang, Q Pan, Y Wang, X Wu, X Shi
Publication Date: 2019

Variant appearance in text: rs1805007
PubMed Link: 29990020
PubMed Central Link
Variant Present in the following documents:
  • Main text
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Contributions by MC1R Variants to Melanoma Risk in Males and Females.

Jama Dermatology
J Wendt, C Mueller, S Rauscher, I Fae, G Fischer, I Okamoto
Publication Date: 2018-07-01

Variant appearance in text: MC1R: R151C
PubMed Link: 29898205
PubMed Central Link
Variant Present in the following documents:
  • Main text
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Assessing the Incremental Contribution of Common Genomic Variants to Melanoma Risk Prediction in Two Population-Based Studies.

The Journal Of Investigative Dermatology
AE Cust, M Drummond, PA Kanetsky, , , AM Goldstein, JH Barrett, S MacGregor, MH Law, MM Iles, M Bui, JL Hopper, M Brossard, F Demenais, JC Taylor, C Hoggart, KM Brown, MT Landi, JA Newton-Bishop, GJ Mann, DT Bishop
Publication Date: 2018-12

Variant appearance in text: MC1R: R151C
PubMed Link: 29890168
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
View BVdb publication page



Adaptive Landscape of Protein Variation in Human Exomes.

Molecular Biology And Evolution
R Patel, LB Scheinfeldt, MD Sanderford, TR Lanham, K Tamura, A Platt, BS Glicksberg, K Xu, JT Dudley, S Kumar
Publication Date: 2018-08-01

Variant appearance in text: rs1805007
PubMed Link: 29846678
PubMed Central Link
Variant Present in the following documents:
  • Main text
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MC1R variants as melanoma risk factors independent of at-risk phenotypic characteristics: a pooled analysis from the M-SKIP project.

Cancer Management And Research
E Tagliabue, S Gandini, R Bellocco, P Maisonneuve, J Newton-Bishop, D Polsky, D Lazovich, PA Kanetsky, P Ghiorzo, NA Gruis, MT Landi, C Menin, MC Fargnoli, JC García-Borrón, J Han, J Little, F Sera, S Raimondi
Publication Date: 2018

Variant appearance in text: MC1R: R151C
PubMed Link: 29795986
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • get_supplementary_file.php?f=155283.pdf
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CDKN2A/CDK4 Status in Greek Patients with Familial Melanoma and Association with Clinico-epidemiological Parameters.

Acta Dermato-Venereologica
F Karagianni, CN Njauw, KP Kypreou, A Stergiopoulou, M Plaka, D Polydorou, V Chasapi, L Pappas, IA Stratigos, G Champsas, P Panagiotou, H Gogas, E Evangelou, H Tsao, AJ Stratigos, I Stefanaki
Publication Date: 2018-10-10

Variant appearance in text: rs1805007
PubMed Link: 29774366
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessment of rosacea symptom severity by genome-wide association study and expression analysis highlights immuno-inflammatory and skin pigmentation genes.

Human Molecular Genetics
JL Aponte, MN Chiano, LM Yerges-Armstrong, DA Hinds, C Tian, A Gupta, C Guo, DJ Fraser, JM Freudenberg, DK Rajpal, MG Ehm, DM Waterworth
Publication Date: 2018-08-01

Variant appearance in text: MC1R: Arg151Cys; rs1805007
PubMed Link: 29771307
PubMed Central Link
Variant Present in the following documents:
  • ddy184_supplmaterials_clean_v3.docx
  • Main text
  • ddy184.pdf
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Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure.

Nature Communications
A Visconti, DL Duffy, F Liu, G Zhu, W Wu, Y Chen, PG Hysi, C Zeng, M Sanna, MM Iles, PA Kanetsky, F Demenais, MA Hamer, AG Uitterlinden, MA Ikram, T Nijsten, NG Martin, M Kayser, TD Spector, J Han, V Bataille, M Falchi
Publication Date: 2018-05-08

Variant appearance in text: MC1R: R151C
PubMed Link: 29739929
PubMed Central Link
Variant Present in the following documents:
  • 41467_2018_4086_MOESM2_ESM.pdf
  • 41467_2018_4086_MOESM1_ESM.pdf
  • Main text
View BVdb publication page



Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability.

Nature Genetics
PG Hysi, AM Valdes, F Liu, NA Furlotte, DM Evans, V Bataille, A Visconti, G Hemani, G McMahon, SM Ring, GD Smith, DL Duffy, G Zhu, SD Gordon, SE Medland, BD Lin, G Willemsen, J Jan Hottenga, D Vuckovic, G Girotto, I Gandin, C Sala, MP Concas, M Brumat, P Gasparini, D Toniolo, M Cocca, A Robino, S Yazar, AW Hewitt, Y Chen, C Zeng, AG Uitterlinden, MA Ikram, MA Hamer, CM van Duijn, T Nijsten, DA Mackey, M Falchi, DI Boomsma, NG Martin, , DA Hinds, M Kayser, TD Spector
Publication Date: 2018-05

Variant appearance in text: rs1805007
PubMed Link: 29662168
PubMed Central Link
Variant Present in the following documents:
  • Main text
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Dysplastic vs. Common Naevus-associated vs. De novo Melanomas: An Observational Retrospective Study of 1,021 Patients.

Acta Dermato-Venereologica
A Martin-Gorgojo, C Requena, Z Garcia-Casado, V Traves, R Kumar, E Nagore
Publication Date: 2018-06-08

Variant appearance in text: MC1R: R151C
PubMed Link: 29583157
PubMed Central Link
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Associations between sun sensitive pigmentary genes and serum prostate specific antigen levels.

Plos One
V Nair-Shalliker, S Egger, A Chrzanowska, R Mason, L Waite, D Le Couteur, MJ Seibel, DJ Handelsman, R Cumming, DP Smith, BK Armstrong
Publication Date: 2018

Variant appearance in text: rs1805007
PubMed Link: 29518100
PubMed Central Link
Variant Present in the following documents:
  • Main text
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Quantifying the Polygenic Contribution to Cutaneous Squamous Cell Carcinoma Risk.

The Journal Of Investigative Dermatology
JE Sordillo, P Kraft, AC Wu, MM Asgari
Publication Date: 2018-07

Variant appearance in text: rs1805007
PubMed Link: 29452120
PubMed Central Link
Variant Present in the following documents:
  • Main text
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An integrative functional genomics framework for effective identification of novel regulatory variants in genome-phenome studies.

Genome Medicine
J Zhao, F Cheng, P Jia, N Cox, JC Denny, Z Zhao
Publication Date: 2018-01-29

Variant appearance in text: rs1805007
PubMed Link: 29378629
PubMed Central Link
Variant Present in the following documents:
  • 13073_2018_513_MOESM4_ESM.xlsx
View BVdb publication page



Acquired melanocytic naevus phenotypes and MC1R genotypes in Han Chinese: a cross-sectional study.

Peerj
X Li, KJ Lee, DL Duffy, D Xu, MER Basude, Y Hu, H Zhang, K Jagirdar, HP Soyer, H Dong, RA Sturm
Publication Date: 2017

Variant appearance in text: MC1R: R151C
PubMed Link: 29340229
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrated case-control and somatic-germline interaction analyses of melanoma susceptibility genes.

Biochimica Et Biophysica Acta. Molecular Basis Of Disease
Y Yu, H Hu, JS Chen, F Hu, J Fowler, P Scheet, H Zhao, CD Huff
Publication Date: 2018-06

Variant appearance in text: rs1805007
PubMed Link: 29317335
PubMed Central Link
Variant Present in the following documents:
  • Main text
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Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development.

Birth Defects Research
AC Thomas, P Heux, C Santos, W Arulvasan, N Solanky, ME Carey, D Gerrelli, VA Kinsler, HC Etchevers
Publication Date: 2018-03-15

Variant appearance in text: MC1R: R151C
PubMed Link: 29316344
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Biological and Clinical Implications of Comorbidities in Parkinson's Disease.

Frontiers In Aging Neuroscience
JA Santiago, V Bottero, JA Potashkin
Publication Date: 2017

Variant appearance in text: MC1R: R151C
PubMed Link: 29255414
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Marshaling the Translational Potential of MC1R for Precision Risk Assessment of Melanoma.

Cancer Prevention Research (Philadelphia, Pa.)
PA Kanetsky, JL Hay
Publication Date: 2018-03

Variant appearance in text: MC1R: R151C
PubMed Link: 29246956
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



An Unexpectedly Complex Architecture for Skin Pigmentation in Africans.

Cell
AR Martin, M Lin, JM Granka, JW Myrick, X Liu, A Sockell, EG Atkinson, CJ Werely, M Möller, MS Sandhu, DM Kingsley, EG Hoal, X Liu, MJ Daly, MW Feldman, CR Gignoux, CD Bustamante, BM Henn
Publication Date: 2017-11-30

Variant appearance in text: rs1805007
PubMed Link: 29195075
PubMed Central Link
Variant Present in the following documents:
  • NIHMS921744-supplement-2.xlsx
  • Main text
  • NIHMS921744-supplement-1.pdf
View BVdb publication page



Genome-wide association study of pigmentary traits (skin and iris color) in individuals of East Asian ancestry.

Peerj
L Rawofi, M Edwards, S Krithika, P Le, D Cha, Z Yang, Y Ma, J Wang, B Su, L Jin, HL Norton, EJ Parra
Publication Date: 2017

Variant appearance in text: MC1R: R151C; rs1805007
PubMed Link: 29109912
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Heterogeneity of BRAF, NRAS, and TERT Promoter Mutational Status in Multiple Melanomas and Association with MC1R Genotype: Findings from Molecular and Immunohistochemical Analysis.

The Journal Of Molecular Diagnostics : Jmd
C Pellegrini, L Di Nardo, G Cipolloni, C Martorelli, M De Padova, A Antonini, MG Maturo, L Del Regno, S Strafella, T Micantonio, P Leocata, K Peris, MC Fargnoli
Publication Date: 2018-01

Variant appearance in text: MC1R: R151C
PubMed Link: 29061376
PubMed Central Link
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Susceptibility Loci-Associated Cutaneous Squamous Cell Carcinoma Invasiveness.

The Journal Of Investigative Dermatology
W Wang, E Jorgenson, AS Whittemore, MM Asgari
Publication Date: 2018-03

Variant appearance in text: rs1805007
PubMed Link: 29054604
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000540694.1 n.797C>T - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.451C>T p.Arg151Cys missense_variant 1/1 -
ENST00000555427.1 c.451C>T p.Arg151Cys missense_variant 3/4 -
ENST00000556922.1 c.451C>T p.Arg151Cys missense_variant 1/5 -
NM_002386.3 c.451C>T p.Arg151Cys missense_variant 1/1 -