Variant ID: 16-89985918-C-G

NM_002386.3(MC1R):c.252C>G;(p.Asp84Glu)

This variant was identified in 190 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: N/A
PubMed Link: 34442055
PubMed Central Link
Variant Present in the following documents:
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: rs1805006
PubMed Link: 33318654
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: N/A
PubMed Link: 32780924
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Genetic architecture of complex traits and disease risk predictors.

Scientific Reports
SY Yong, TG Raben, L Lello, SDH Hsu
Publication Date: 2020-07-21

Variant appearance in text: N/A
PubMed Link: 32694572
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Pre-clinical modeling of cutaneous melanoma.

Nature Communications
VW Rebecca, R Somasundaram, M Herlyn
Publication Date: 2020-06-05

Variant appearance in text: N/A
PubMed Link: 32504051
PubMed Central Link
Variant Present in the following documents:
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: N/A
PubMed Link: 32350296
PubMed Central Link
Variant Present in the following documents:
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: N/A
PubMed Link: 32346747
PubMed Central Link
Variant Present in the following documents:
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: N/A
PubMed Link: 32029712
PubMed Central Link
Variant Present in the following documents:
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: rs1805006
PubMed Link: 31719606
PubMed Central Link
Variant Present in the following documents:
  • 41598_2019_53105_MOESM2_ESM.xlsx
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: N/A
PubMed Link: 31488411
PubMed Central Link
Variant Present in the following documents:
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: D84E
PubMed Link: 31382929
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • 12885_2019_Article_5984.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: N/A
PubMed Link: 31128889
PubMed Central Link
Variant Present in the following documents:
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: N/A
PubMed Link: 31016712
PubMed Central Link
Variant Present in the following documents:
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: N/A
PubMed Link: 30872112
PubMed Central Link
Variant Present in the following documents:
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: N/A
PubMed Link: 30798934
PubMed Central Link
Variant Present in the following documents:
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: rs1805006
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: N/A
PubMed Link: 30657907
PubMed Central Link
Variant Present in the following documents:
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: N/A
PubMed Link: 30566178
PubMed Central Link
Variant Present in the following documents:
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: N/A
PubMed Link: 30531825
PubMed Central Link
Variant Present in the following documents:
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: rs1805006
PubMed Link: 30479341
PubMed Central Link
Variant Present in the following documents:
  • 41467_2018_7483_MOESM5_ESM.xlsx
View BVdb publication page



Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports
H Cheng, X Yang, H Si, AD Saleh, W Xiao, J Coupar, SM Gollin, RL Ferris, N Issaeva, WG Yarbrough, ME Prince, TE Carey, C Van Waes, Z Chen
Publication Date: 2018-10-30

Variant appearance in text: rs1805006
PubMed Link: 30380422
PubMed Central Link
Variant Present in the following documents:
  • NIHMS1511993-supplement-6.xlsx
View BVdb publication page



Sirtuin 1-mediated deacetylation of XPA DNA repair protein enhances its interaction with ATR protein and promotes cAMP-induced DNA repair of UV damage.

The Journal Of Biological Chemistry
SG Jarrett, KM Carter, RM Bautista, D He, C Wang, JA D'Orazio
Publication Date: 2018-12-07

Variant appearance in text: N/A
PubMed Link: 30327428
PubMed Central Link
Variant Present in the following documents:
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: rs1805006
PubMed Link: 30205563
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: N/A
PubMed Link: 29898205
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



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: N/A
PubMed Link: 29890168
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



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: N/A
PubMed Link: 29795986
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



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: rs1805006
PubMed Link: 29774366
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: N/A
PubMed Link: 29739929
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



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: N/A
PubMed Link: 29583157
PubMed Central Link
Variant Present in the following documents:
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: N/A
PubMed Link: 29340229
PubMed Central Link
Variant Present in the following documents:
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: rs1805006
PubMed Link: 29317335
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: N/A
PubMed Link: 29316344
PubMed Central Link
Variant Present in the following documents:
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: N/A
PubMed Link: 29246956
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



The melanocortin signaling cAMP axis accelerates repair and reduces mutagenesis of platinum-induced DNA damage.

Scientific Reports
SG Jarrett, KM Carter, BJ Shelton, JA D'Orazio
Publication Date: 2017-09-15

Variant appearance in text: N/A
PubMed Link: 28916831
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Associations of MC1R Genotype and Patient Phenotypes with BRAF and NRAS Mutations in Melanoma.

The Journal Of Investigative Dermatology
NE Thomas, SN Edmiston, PA Kanetsky, KJ Busam, A Kricker, BK Armstrong, AE Cust, H Anton-Culver, SB Gruber, L Luo, I Orlow, AS Reiner, RP Gallagher, R Zanetti, S Rosso, L Sacchetto, T Dwyer, EA Parrish, H Hao, DC Gibbs, JS Frank, DW Ollila, CB Begg, M Berwick, K Conway,
Publication Date: 2017-12

Variant appearance in text: N/A
PubMed Link: 28842324
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Predicting hair cortisol levels with hair pigmentation genes: a possible hair pigmentation bias.

Scientific Reports
A Neumann, G Noppe, F Liu, M Kayser, FC Verhulst, VWV Jaddoe, EFC van Rossum, H Tiemeier
Publication Date: 2017-08-17

Variant appearance in text: rs1805006
PubMed Link: 28819144
PubMed Central Link
Variant Present in the following documents:
  • 41598_2017_7034_MOESM1_ESM.pdf
View BVdb publication page



Association of Incident Amelanotic Melanoma With Phenotypic Characteristics, MC1R Status, and Prior Amelanotic Melanoma.

Jama Dermatology
S Vernali, WT Waxweiler, PM Dillon, PA Kanetsky, I Orlow, L Luo, KJ Busam, A Kricker, BK Armstrong, H Anton-Culver, SB Gruber, RP Gallagher, R Zanetti, S Rosso, L Sacchetto, T Dwyer, AE Cust, DW Ollila, CB Begg, M Berwick, NE Thomas,
Publication Date: 2017-10-01

Variant appearance in text: N/A
PubMed Link: 28746718
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Adaptation of human skin color in various populations.

Hereditas
L Deng, S Xu
Publication Date: 2018

Variant appearance in text: rs1805006
PubMed Link: 28701907
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-Wide Association Shows that Pigmentation Genes Play a Role in Skin Aging.

The Journal Of Investigative Dermatology
MH Law, SE Medland, G Zhu, S Yazar, A Viñuela, L Wallace, SN Shekar, DL Duffy, V Bataille, D Glass, TD Spector, D Wood, , SD Gordon, JM Barbour, AK Henders, AW Hewitt, GW Montgomery, RA Sturm, DA Mackey, AC Green, NG Martin, S MacGregor
Publication Date: 2017-09

Variant appearance in text: N/A
PubMed Link: 28502801
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Global skin colour prediction from DNA.

Human Genetics
S Walsh, L Chaitanya, K Breslin, C Muralidharan, A Bronikowska, E Pospiech, J Koller, L Kovatsi, A Wollstein, W Branicki, F Liu, M Kayser
Publication Date: 2017-07

Variant appearance in text: rs1805006
PubMed Link: 28500464
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Implementing an Internet-Delivered Skin Cancer Genetic Testing Intervention to Improve Sun Protection Behavior in a Diverse Population: Protocol for a Randomized Controlled Trial.

Jmir Research Protocols
JL Hay, M Berwick, K Zielaskowski, KA White, VM Rodríguez, E Robers, DD Guest, A Sussman, Y Talamantes, MR Schwartz, J Greb, J Bigney, KA Kaphingst, K Hunley, DB Buller
Publication Date: 2017-04-25

Variant appearance in text: N/A
PubMed Link: 28442450
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



The Neolithic Transition in the Baltic Was Not Driven by Admixture with Early European Farmers.

Current Biology : Cb
ER Jones, G Zarina, V Moiseyev, E Lightfoot, PR Nigst, A Manica, R Pinhasi, DG Bradley
Publication Date: 2017-02-20

Variant appearance in text: rs1805006
PubMed Link: 28162894
PubMed Central Link
Variant Present in the following documents:
  • mmc3.pdf
  • mmc1.pdf
View BVdb publication page



Characterization of melanoma susceptibility genes in high-risk patients from Central Italy.

Melanoma Research
C Pellegrini, MG Maturo, C Martorelli, M Suppa, A Antonini, D Kostaki, L Verna, MT Landi, K Peris, MC Fargnoli
Publication Date: 2017-06

Variant appearance in text: N/A
PubMed Link: 28146043
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Genomic expression differences between cutaneous cells from red hair color individuals and black hair color individuals based on bioinformatic analysis.

Oncotarget
JA Puig-Butille, P Gimenez-Xavier, A Visconti, J Nsengimana, F Garcia-García, G Tell-Marti, MJ Escamez, J Newton-Bishop, V Bataille, M Del Río, J Dopazo, M Falchi, S Puig
Publication Date: 2017-02-14

Variant appearance in text: N/A
PubMed Link: 28030792
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Multidisciplinary Identification of the Controversial Freedom Fighter Jörg Jenatsch, Assassinated 1639 in Chur, Switzerland.

Plos One
M Haeusler, C Haas, S Lösch, N Moghaddam, IM Villa, S Walsh, M Kayser, R Seiler, F Ruehli, M Janosa, C Papageorgopoulou
Publication Date: 2016

Variant appearance in text: rs1805006
PubMed Link: 28030571
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Phase II Randomized Placebo-Controlled Trial of Oral N-acetylcysteine for Protection of Melanocytic Nevi against UV-Induced Oxidative Stress In Vivo.

Cancer Prevention Research (Philadelphia, Pa.)
PB Cassidy, T Liu, SR Florell, M Honeggar, SA Leachman, KM Boucher, D Grossman
Publication Date: 2017-01

Variant appearance in text: N/A
PubMed Link: 27920018
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



More comprehensive forensic genetic marker analyses for accurate human remains identification using massively parallel DNA sequencing.

Bmc Genomics
AD Ambers, JD Churchill, JL King, M Stoljarova, H Gill-King, M Assidi, M Abu-Elmagd, A Buhmeida, M Al-Qahtani, B Budowle
Publication Date: 2016-10-17

Variant appearance in text: rs1805006
PubMed Link: 27766958
PubMed Central Link
Variant Present in the following documents:
  • 12864_2016_3087_MOESM4_ESM.xlsx
  • Main text
View BVdb publication page



Genetic analysis of melanocortin 1 receptor red hair color variants in a Russian population of Eastern Siberia.

European Journal Of Cancer Prevention : The Official Journal Of The European Cancer Prevention Organisation (Ecp)
AV Motorina, NV Palkina, AV Komina, TG Ruksha, IP Artyukhov, VV Kozlov
Publication Date: 2018-03

Variant appearance in text: N/A
PubMed Link: 27755135
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Hormonal Regulation of the Repair of UV Photoproducts in Melanocytes by the Melanocortin Signaling Axis.

Photochemistry And Photobiology
SG Jarrett, JA D'Orazio
Publication Date: 2017-01

Variant appearance in text: N/A
PubMed Link: 27645605
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Significance of the Melanocortin 1 and Endothelin B Receptors in Melanocyte Homeostasis and Prevention of Sun-Induced Genotoxicity.

Frontiers In Genetics
VB Swope, ZA Abdel-Malek
Publication Date: 2016

Variant appearance in text: N/A
PubMed Link: 27582758
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Fear of Pain Mediates the Association between MC1R Genotype and Dental Fear.

Journal Of Dental Research
CL Randall, DW McNeil, JR Shaffer, RJ Crout, RJ Weyant, ML Marazita
Publication Date: 2016-09

Variant appearance in text: N/A
PubMed Link: 27555332
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



The genetics of an early Neolithic pastoralist from the Zagros, Iran.

Scientific Reports
M Gallego-Llorente, S Connell, ER Jones, DC Merrett, Y Jeon, A Eriksson, V Siska, C Gamba, C Meiklejohn, R Beyer, S Jeon, YS Cho, M Hofreiter, J Bhak, A Manica, R Pinhasi
Publication Date: 2016-08-09

Variant appearance in text: rs1805006
PubMed Link: 27502179
PubMed Central Link
Variant Present in the following documents:
  • srep31326-s1.pdf
View BVdb publication page



Melanocortin-1 Receptor Polymorphisms and the Risk of Complicated Sepsis After Trauma: A Candidate Gene Association Study.

Shock (Augusta, Ga.)
ME Seaton, BA Parent, RF Sood, MM Wurfel, LA Muffley, GE O'Keefe, NS Gibran
Publication Date: 2017-01

Variant appearance in text: N/A
PubMed Link: 27488084
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Germline MC1R status influences somatic mutation burden in melanoma.

Nature Communications
CD Robles-Espinoza, ND Roberts, S Chen, FP Leacy, LB Alexandrov, N Pornputtapong, R Halaban, M Krauthammer, R Cui, D Timothy Bishop, DJ Adams
Publication Date: 2016-07-12

Variant appearance in text: N/A
PubMed Link: 27403562
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



A novel MC4R deletion coexisting with FTO and MC1R gene variants, causes severe early onset obesity.

Hormones (Athens, Greece)
V Neocleous, C Shammas, MM Phelan, P Fanis, M Pantelidou, N Skordis, C Mantzoros, LA Phylactou, M Toumba
Publication Date: 2016-07

Variant appearance in text: N/A
PubMed Link: 27394708
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Early farmers from across Europe directly descended from Neolithic Aegeans.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Z Hofmanová, S Kreutzer, G Hellenthal, C Sell, Y Diekmann, D Díez-Del-Molino, L van Dorp, S López, A Kousathanas, V Link, K Kirsanow, LM Cassidy, R Martiniano, M Strobel, A Scheu, K Kotsakis, P Halstead, S Triantaphyllou, N Kyparissi-Apostolika, D Urem-Kotsou, C Ziota, F Adaktylou, S Gopalan, DM Bobo, L Winkelbach, J Blöcher, M Unterländer, C Leuenberger, Ç Çilingiroğlu, B Horejs, F Gerritsen, SJ Shennan, DG Bradley, M Currat, KR Veeramah, D Wegmann, MG Thomas, C Papageorgopoulou, J Burger
Publication Date: 2016-06-21

Variant appearance in text: rs1805006
PubMed Link: 27274049
PubMed Central Link
Variant Present in the following documents:
  • pnas.1523951113.sapp.pdf
View BVdb publication page



MC1R is dispensable for the proteinuria reducing and glomerular protective effect of melanocortin therapy.

Scientific Reports
Y Qiao, AL Berg, P Wang, Y Ge, S Quan, S Zhou, H Wang, Z Liu, R Gong
Publication Date: 2016-06-08

Variant appearance in text: N/A
PubMed Link: 27270328
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Association of Melanocortin-1 Receptor Variants with Pigmentary Traits in Humans: A Pooled Analysis from the M-Skip Project.

The Journal Of Investigative Dermatology
E Tagliabue, S Gandini, JC García-Borrón, P Maisonneuve, J Newton-Bishop, D Polsky, D Lazovich, R Kumar, P Ghiorzo, L Ferrucci, NA Gruis, S Puig, PA Kanetsky, T Motokawa, G Ribas, MT Landi, MC Fargnoli, TH Wong, A Stratigos, P Helsing, G Guida, P Autier, J Han, J Little, F Sera, S Raimondi,
Publication Date: 2016-09

Variant appearance in text: N/A
PubMed Link: 27251790
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Response to Czarnecki.

The Journal Of Investigative Dermatology
DC Whiteman, AC Green, CM Olsen
Publication Date: 2016-09

Variant appearance in text: N/A
PubMed Link: 27236106
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Red Hair, Light Skin, and UV-Independent Risk for Melanoma Development in Humans.

Jama Dermatology
EM Roider, DE Fisher
Publication Date: 2016-07-01

Variant appearance in text: N/A
PubMed Link: 27050924
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Pigmentary Markers in Danes--Associations with Quantitative Skin Colour, Nevi Count, Familial Atypical Multiple-Mole, and Melanoma Syndrome.

Plos One
P Johansen, JD Andersen, LN Madsen, H Ullum, M Glud, C Børsting, R Gniadecki, N Morling
Publication Date: 2016

Variant appearance in text: N/A
PubMed Link: 26938746
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



The next generation of metastatic melanoma: uncovering the genetic variants for anti-BRAF therapy response.

Oncotarget
R Pinto, S De Summa, S Strippoli, B Pilato, A Azzariti, G Guida, M Guida, S Tommasi
Publication Date: 2016-05-03

Variant appearance in text: N/A
PubMed Link: 26863566
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Identification of Susceptibility Loci for Cutaneous Squamous Cell Carcinoma.

The Journal Of Investigative Dermatology
MM Asgari, W Wang, NM Ioannidis, J Itnyre, T Hoffmann, E Jorgenson, AS Whittemore
Publication Date: 2016-05

Variant appearance in text: N/A
PubMed Link: 26829030
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Histologic and Phenotypic Factors and MC1R Status Associated with BRAF(V600E), BRAF(V600K), and NRAS Mutations in a Community-Based Sample of 414 Cutaneous Melanomas.

The Journal Of Investigative Dermatology
E Hacker, CM Olsen, M Kvaskoff, N Pandeya, A Yeo, AC Green, RM Williamson, J Triscott, D Wood, R Mortimore, NK Hayward, DC Whiteman
Publication Date: 2016-04

Variant appearance in text: N/A
PubMed Link: 26807515
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Risk factors for keratinocyte skin cancer in patients diagnosed with melanoma, a large retrospective study.

European Journal Of Cancer (Oxford, England : 1990)
P Espinosa, RM Pfeiffer, Z García-Casado, C Requena, MT Landi, R Kumar, E Nagore
Publication Date: 2016-01

Variant appearance in text: N/A
PubMed Link: 26702765
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
S Puig, M Potrony, F Cuellar, JA Puig-Butille, C Carrera, P Aguilera, E Nagore, Z Garcia-Casado, C Requena, R Kumar, G Landman, B Costa Soares de Sá, G Gargantini Rezze, L Facure, AL de Avila, MI Achatz, DM Carraro, JP Duprat Neto, TC Grazziotin, RR Bonamigo, MC Rey, C Balestrini, E Morales, M Molgo, RM Bakos, P Ashton-Prolla, R Giugliani, A Larre Borges, V Barquet, J Pérez, M Martínez, H Cabo, E Cohen Sabban, C Latorre, B Carlos-Ortega, JC Salas-Alanis, R Gonzalez, Z Olazaran, J Malvehy, C Badenas
Publication Date: 2016-07

Variant appearance in text: N/A
PubMed Link: 26681309
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Rare variants in MC1R/TUBB3 exon 1 are not associated with Parkinson's disease.

Annals Of Neurology
O Lorenzo-Betancor, ZK Wszolek, OA Ross
Publication Date: 2016-02

Variant appearance in text: rs1805006
PubMed Link: 26677074
PubMed Central Link
Variant Present in the following documents:
  • NIHMS746220-supplement-Supp_Table_S1.docx
View BVdb publication page



Upper Palaeolithic genomes reveal deep roots of modern Eurasians.

Nature Communications
ER Jones, G Gonzalez-Fortes, S Connell, V Siska, A Eriksson, R Martiniano, RL McLaughlin, M Gallego Llorente, LM Cassidy, C Gamba, T Meshveliani, O Bar-Yosef, W Müller, A Belfer-Cohen, Z Matskevich, N Jakeli, TFG Higham, M Currat, D Lordkipanidze, M Hofreiter, A Manica, R Pinhasi, DG Bradley
Publication Date: 2015-11-16

Variant appearance in text: rs1805006
PubMed Link: 26567969
PubMed Central Link
Variant Present in the following documents:
  • ncomms9912-s1.pdf
View BVdb publication page



Crowdsourced direct-to-consumer genomic analysis of a family quartet.

Bmc Genomics
M Corpas, W Valdivia-Granda, N Torres, B Greshake, A Coletta, A Knaus, AP Harrison, M Cariaso, F Moran, F Nielsen, D Swan, DY Weiss Solís, P Krawitz, F Schacherer, P Schols, H Yang, P Borry, G Glusman, PN Robinson
Publication Date: 2015-11-07

Variant appearance in text: rs1805006
PubMed Link: 26547235
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Update in genetic susceptibility in melanoma.

Annals Of Translational Medicine
M Potrony, C Badenas, P Aguilera, JA Puig-Butille, C Carrera, J Malvehy, S Puig
Publication Date: 2015-09

Variant appearance in text: N/A
PubMed Link: 26488006
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Melanoma genetics.

Journal Of Medical Genetics
J Read, KA Wadt, NK Hayward
Publication Date: 2016-01

Variant appearance in text: N/A
PubMed Link: 26337759
PubMed Central Link
Variant Present in the following documents:
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Defining the Contribution of MC1R Physiological Ligands to ATR Phosphorylation at Ser435, a Predictor of DNA Repair in Melanocytes.

The Journal Of Investigative Dermatology
SG Jarrett, EM Wolf Horrell, MC Boulanger, JA D'Orazio
Publication Date: 2015-12

Variant appearance in text: N/A
PubMed Link: 26168232
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



MC1R gene variants and non-melanoma skin cancer: a pooled-analysis from the M-SKIP project.

British Journal Of Cancer
E Tagliabue, MC Fargnoli, S Gandini, P Maisonneuve, F Liu, M Kayser, T Nijsten, J Han, R Kumar, NA Gruis, L Ferrucci, W Branicki, T Dwyer, L Blizzard, P Helsing, P Autier, JC García-Borrón, PA Kanetsky, MT Landi, J Little, J Newton-Bishop, F Sera, S Raimondi,
Publication Date: 2015-07-14

Variant appearance in text: N/A
PubMed Link: 26103569
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.

Human Genetics
F Liu, M Visser, DL Duffy, PG Hysi, LC Jacobs, O Lao, K Zhong, S Walsh, L Chaitanya, A Wollstein, G Zhu, GW Montgomery, AK Henders, M Mangino, D Glass, V Bataille, RA Sturm, F Rivadeneira, A Hofman, WF van IJcken, AG Uitterlinden, RJ Palstra, TD Spector, NG Martin, TE Nijsten, M Kayser
Publication Date: 2015-08

Variant appearance in text: N/A
PubMed Link: 25963972
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Variants of SCARB1 and VDR Involved in Complex Genetic Interactions May Be Implicated in the Genetic Susceptibility to Clear Cell Renal Cell Carcinoma.

Biomed Research International
E Pośpiech, J Ligęza, W Wilk, A Gołas, J Jaszczyński, A Stelmach, J Ryś, A Blecharczyk, A Wojas-Pelc, J Jura, W Branicki
Publication Date: 2015

Variant appearance in text: rs1805006
PubMed Link: 25945350
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • 860405.f1.pdf
View BVdb publication page



CDKN2a mutation-negative melanoma families have increased risk exclusively for skin cancers but not for other malignancies.

International Journal Of Cancer
H Helgadottir, V Höiom, R Tuominen, G Jönsson, E Månsson-Brahme, H Olsson, J Hansson
Publication Date: 2015-11-01

Variant appearance in text: N/A
PubMed Link: 25943250
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.

Plos One
KA Wadt, LG Aoude, L Krogh, L Sunde, A Bojesen, K Grønskov, N Wartacz, J Ek, M Tolstrup-Andersen, M Klarskov-Andersen, Å Borg, S Heegaard, JF Kiilgaard, TV Hansen, K Klein, G Jönsson, KT Drzewiecki, M Dunø, NK Hayward, AM Gerdes
Publication Date: 2015

Variant appearance in text: N/A
PubMed Link: 25803691
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Prediction of the damage-associated non-synonymous single nucleotide polymorphisms in the human MC1R gene.

Plos One
D Hepp, GL Gonçalves, TR de Freitas
Publication Date: 2015

Variant appearance in text: N/A
PubMed Link: 25794181
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Inherited variation at MC1R and histological characteristics of primary melanoma.

Plos One
NJ Taylor, KJ Busam, L From, PA Groben, H Anton-Culver, AE Cust, CB Begg, T Dwyer, RP Gallagher, SB Gruber, I Orlow, S Rosso, NE Thomas, R Zanetti, TR Rebbeck, M Berwick, PA Kanetsky
Publication Date: 2015

Variant appearance in text: N/A
PubMed Link: 25790105
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000540694.1 n.598C>G - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.252C>G p.Asp84Glu missense_variant 1/1 -
ENST00000555427.1 c.252C>G p.Asp84Glu missense_variant 3/4 -
ENST00000556922.1 c.252C>G p.Asp84Glu missense_variant 1/5 -
NM_002386.3 c.252C>G p.Asp84Glu missense_variant 1/1 -