MC1R c.252C>G ;(p.D84E)

Variant ID: 16-89985918-C-G

NM_002386.3(MC1R):c.252C>G;(p.D84E)

This variant was identified in 157 publications

View GRCh38 version.




Publications:


Accuracy of Eye and Hair Color Prediction in Mexican Mestizos from Monterrey City Based on ForenSeqTM DNA Signature Prep.

Genes
Aguilar-Velázquez, José Alonso JA; Llamas-de-Dios, Blanca Jeannete BJ; Córdova-Mercado, Miranda Fabiola MF; Coronado-Ávila, Carolina Elena CE; Salas-Salas, Orlando O; López-Quintero, Andrés A; Ramos-González, Benito B; Rangel-Villalobos, Héctor H
Publication Date: 2023-05-22

Variant appearance in text: rs1805006
PubMed Link: 37239480
Variant Present in the following documents:
  • Main text
  • genes-14-01120.pdf
View BVdb publication page



Human genetic history on the Tibetan Plateau in the past 5100 years.

Science Advances
Wang, Hongru H; Yang, Melinda A MA; Wangdue, Shargan S; Lu, Hongliang H; Chen, Honghai H; Li, Linhui L; Dong, Guanghui G; Tsring, Tinley T; Yuan, Haibing H; He, Wei W; Ding, Manyu M; Wu, Xiaohong X; Li, Shuai S; Tashi, Norbu N; Yang, Tsho T; Yang, Feng F; Tong, Yan Y; Chen, Zujun Z; He, Yuanhong Y; Cao, Peng P; Dai, Qingyan Q; Liu, Feng F; Feng, Xiaotian X; Wang, Tianyi T; Yang, Ruowei R; Ping, Wanjing W; Zhang, Zhaoxia Z; Gao, Yang Y; Zhang, Ming M; Wang, Xiaoji X; Zhang, Chao C; Yuan, Kai K; Ko, Albert Min-Shan AM; Aldenderfer, Mark M; Gao, Xing X; Xu, Shuhua S; Fu, Qiaomei Q
Publication Date: 2023-03-15

Variant appearance in text: rs1805006
PubMed Link: 36930720
Variant Present in the following documents:
  • sciadv.add5582_sm.pdf
View BVdb publication page



A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
Publication Date: 2023-03-16

Variant appearance in text: MC1R: D84E
PubMed Link: 36928921
Variant Present in the following documents:
  • ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3
View BVdb publication page



The relationship between single nucleotide polymorphisms and skin cancer susceptibility: A systematic review and network meta-analysis.

Frontiers In Oncology
Zhang, Lu L; Pozsgai, Éva É; Song, Yongan Y; Macharia, John J; Alfatafta, Huda H; Zheng, Jia J; Li, Zhaoyi Z; Liu, Hongbo H; Kiss, István I
Publication Date: 2023

Variant appearance in text: rs1805006
PubMed Link: 36874118
Variant Present in the following documents:
  • Main text
  • fonc-13-1094309.pdf
View BVdb publication page



Human profiling from STR and SNP analysis of tropical bed bug, Cimex hemipterus, for forensic science.

Scientific Reports
Lim, Li L; Ab Majid, Abdul Hafiz AH
Publication Date: 2023-01-27

Variant appearance in text: rs1805006
PubMed Link: 36707655
Variant Present in the following documents:
  • Main text
  • 41598_2023_Article_28774.pdf
View BVdb publication page



Melanogenesis and the Targeted Therapy of Melanoma.

Biomolecules
Li, Cang C; Kuai, Le L; Cui, Rutao R; Miao, Xiao X
Publication Date: 2022-12-14

Variant appearance in text: MC1R: D84E
PubMed Link: 36551302
Variant Present in the following documents:
  • Main text
  • biomolecules-12-01874.pdf
View BVdb publication page



Interest and Utility of MC1R Testing for Melanoma Risk in Dermatology Patients with a History of Nonmelanoma Skin Cancer.

Journal Of Skin Cancer
Hay, Jennifer L JL; Lee, Erica H EH; Christian, Stephanie N SN; Schofield, Elizabeth E; Hamilton, Jada G JG; Yang, Ciyu C; Hedayati, Bobak B; Sadeghi, Keimya K; Robson, Mark E ME; Halpern, Allan A; Zhang, Liying L; Orlow, Irene I
Publication Date: 2022

Variant appearance in text: MC1R: D84E
PubMed Link: 35959144
Variant Present in the following documents:
  • JSC2022-4046554.pdf
View BVdb publication page



A randomized clinical trial of precision prevention materials incorporating MC1R genetic risk to improve skin cancer prevention activities among Hispanics.

Cancer Research Communications
Lacson, John Charles A JCA; Doyle, Scarlet H SH; Del Rio, Jocelyn J; Forgas, Stephanie M SM; Carvajal, Rodrigo R; Gonzalez-Calderon, Guillermo G; Feliciano, Adriana Ramírez AR; Kim, Youngchul Y; Roetzheim, Richard G RG; Sutton, Steven K SK; Vadaparampil, Susan T ST; Soto-Torres, Brenda B; Kanetsky, Peter A PA
Publication Date: 2022-01

Variant appearance in text: N/A
PubMed Link: 35845857
Variant Present in the following documents:
View BVdb publication page



Focus on the Contribution of Oxidative Stress in Skin Aging.

Antioxidants (Basel, Switzerland)
Papaccio, Federica F; D Arino, Andrea A; Caputo, Silvia S; Bellei, Barbara B
Publication Date: 2022-06-06

Variant appearance in text: MC1R: D84E
PubMed Link: 35740018
Variant Present in the following documents:
  • Main text
  • antioxidants-11-01121.pdf
View BVdb publication page



Genetic diversity of the melanocortin-1 receptor in an admixed population of Rio de Janeiro: Structural and functional impacts of Cys35Tyr variant.

Plos One
Neitzke-Montinelli, Vanessa V; da Silva Figueiredo Celestino Gomes, Priscila P; Pascutti, Pedro G PG; Moura-Neto, Rodrigo S RS; Silva, Rosane R
Publication Date: 2022

Variant appearance in text: N/A
PubMed Link: 35452484
Variant Present in the following documents:
View BVdb publication page



Case Report: A Novel Pathomechanism in PEComa by the Loss of Heterozygosity of TP53.

Frontiers In Oncology
Butz, Henriett H; Lövey, József J; Szentkereszty, Márton M; Bozsik, Anikó A; Tóth, Erika E; Patócs, Attila A
Publication Date: 2022

Variant appearance in text: rs1805006
PubMed Link: 35419288
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



Unveiling forensically relevant biogeographic, phenotype and Y-chromosome SNP variation in Pakistani ethnic groups using a customized hybridisation enrichment forensic intelligence panel.

Plos One
Rauf, Sobiah S; Austin, Jeremy J JJ; Higgins, Denice D; Khan, Muhammad Ramzan MR
Publication Date: 2022

Variant appearance in text: rs1805006
PubMed Link: 35176104
Variant Present in the following documents:
  • Main text
  • pone.0264125.pdf
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: N/A
PubMed Link: 35115730
Variant Present in the following documents:
View BVdb publication page



An Insight into GPCR and G-Proteins as Cancer Drivers.

Cells
Chaudhary, Preeti Kumari PK; Kim, Soochong S
Publication Date: 2021-11-24

Variant appearance in text: MC1R: D84E
PubMed Link: 34943797
Variant Present in the following documents:
  • Main text
View BVdb publication page



An Insight into GPCR and G-Proteins as Cancer Drivers.

Cells
Chaudhary, Preeti Kumari PK; Kim, Soochong S
Publication Date: 2021-11-24

Variant appearance in text: MC1R: D84E
PubMed Link: 34943797
Variant Present in the following documents:
  • Main text
View BVdb publication page



A large Canadian cohort provides insights into the genetic architecture of human hair colour.

Communications Biology
Lona-Durazo, Frida F; Mendes, Marla M; Thakur, Rohit R; Funderburk, Karen K; Zhang, Tongwu T; Kovacs, Michael A MA; Choi, Jiyeon J; Brown, Kevin M KM; Parra, Esteban J EJ
Publication Date: 2021-11-04

Variant appearance in text: rs1805006
PubMed Link: 34737440
Variant Present in the following documents:
  • Main text
  • 42003_2021_Article_2764.pdf
View BVdb publication page



Genetic and Genomic Pathways of Melanoma Development, Invasion and Metastasis.

Genes
Motwani, Jyoti J; Eccles, Michael R MR
Publication Date: 2021-09-28

Variant appearance in text: MC1R: D84E
PubMed Link: 34680938
Variant Present in the following documents:
  • Main text
  • genes-12-01543.pdf
View BVdb publication page



Genetic Variants and Somatic Alterations Associated with MITF-E318K Germline Mutation in Melanoma Patients.

Genes
Vergani, Elisabetta E; Frigerio, Simona S; Dugo, Matteo M; Devecchi, Andrea A; Feltrin, Erika E; De Cecco, Loris L; Vallacchi, Viviana V; Cossa, Mara M; Di Guardo, Lorenza L; Manoukian, Siranoush S; Peissel, Bernard B; Ferrari, Andrea A; Gallino, Gianfrancesco G; Maurichi, Andrea A; Rivoltini, Licia L; Sensi, Marialuisa M; Rodolfo, Monica M
Publication Date: 2021-09-18

Variant appearance in text: N/A
PubMed Link: 34573422
Variant Present in the following documents:
View BVdb publication page



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
Zocchi, Lamberto L; Lontano, Alberto A; Merli, Martina M; Dika, Emi E; Nagore, Eduardo E; Quaglino, Pietro P; Puig, Susana S; Ribero, Simone S
Publication Date: 2021-08-23

Variant appearance in text: N/A
PubMed Link: 34442055
Variant Present in the following documents:
View BVdb publication page



Behavioral and Psychological Outcomes Associated with Skin Cancer Genetic Testing in Albuquerque Primary Care.

Cancers
Hay, Jennifer L JL; Kaphingst, Kimberly A KA; Buller, David D; Schofield, Elizabeth E; Meyer White, Kirsten K; Sussman, Andrew A; Guest, Dolores D; Dailey, Yvonne T YT; Robers, Erika E; Schwartz, Matthew R MR; Li, Yuelin Y; Hunley, Keith K; Berwick, Marianne M
Publication Date: 2021-08-12

Variant appearance in text: N/A
PubMed Link: 34439206
Variant Present in the following documents:
View BVdb publication page



Behind the Scene: Exploiting MC1R in Skin Cancer Risk and Prevention.

Genes
Manganelli, Michele M; Guida, Stefania S; Ferretta, Anna A; Pellacani, Giovanni G; Porcelli, Letizia L; Azzariti, Amalia A; Guida, Gabriella G
Publication Date: 2021-07-19

Variant appearance in text: MC1R: D84E
PubMed Link: 34356109
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular features and vulnerabilities of recurrent chordomas.

Journal Of Experimental & Clinical Cancer Research : Cr
Seeling, Carolin C; Lechel, André A; Svinarenko, Michael M; Möller, Peter P; Barth, Thomas F E TFE; Mellert, Kevin K
Publication Date: 2021-07-30

Variant appearance in text: N/A
PubMed Link: 34330313
Variant Present in the following documents:
View BVdb publication page



Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Moore, Bryn S BS; Luo, Jonathan Z JZ; Stepanchick, Ann N AN; Mirshahi, Tooraj T
Publication Date: 2021-12

Variant appearance in text: rs1805006
PubMed Link: 34326492
Variant Present in the following documents:
  • Main text
  • nihms-1754145.pdf
  • NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1
View BVdb publication page



Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Moore, Bryn S BS; Luo, Jonathan Z JZ; Stepanchick, Ann N AN; Mirshahi, Tooraj T
Publication Date: 2021-12

Variant appearance in text: rs1805006
PubMed Link: 34326492
Variant Present in the following documents:
  • Main text
  • nihms-1754145.pdf
  • NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1
View BVdb publication page



Sequencing for germline mutations in Swedish breast cancer families reveals novel breast cancer risk genes.

Scientific Reports
Helgadottir, Hafdis T HT; Thutkawkorapin, Jessada J; Lagerstedt-Robinson, Kristina K; Lindblom, Annika A
Publication Date: 2021-07-19

Variant appearance in text: N/A
PubMed Link: 34282249
Variant Present in the following documents:
View BVdb publication page



Analysis of Skin Pigmentation and Genetic Ancestry in Three Subpopulations from Pakistan: Punjabi, Pashtun, and Baloch.

Genes
Shan, Muhammad Adnan MA; Meyer, Olivia Strunge OS; Refn, Mie M; Morling, Niels N; Andersen, Jeppe Dyrberg JD; Børsting, Claus C
Publication Date: 2021-05-13

Variant appearance in text: rs1805006
PubMed Link: 34068188
Variant Present in the following documents:
  • Main text
View BVdb publication page



The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell Carcinoma.

Cancers
Hubert, Jean-Noël JN; Suybeng, Voreak V; Vallée, Maxime M; Delhomme, Tiffany M TM; Maubec, Eve E; Boland, Anne A; Bacq, Delphine D; Deleuze, Jean-François JF; Jouenne, Fanélie F; Brennan, Paul P; McKay, James D JD; Avril, Marie-Françoise MF; Bressac-de Paillerets, Brigitte B; Chanudet, Estelle E
Publication Date: 2021-05-07

Variant appearance in text: N/A
PubMed Link: 34067022
Variant Present in the following documents:
View BVdb publication page



Evaluation of OpenArray™ as a Genotyping Method for Forensic DNA Phenotyping and Human Identification.

Genes
Ragazzo, Michele M; Puleri, Giulio G; Errichiello, Valeria V; Manzo, Laura L; Luzzi, Laura L; Potenza, Saverio S; Strafella, Claudia C; Peconi, Cristina C; Nicastro, Fabio F; Caputo, Valerio V; Giardina, Emiliano E
Publication Date: 2021-02-03

Variant appearance in text: rs1805006
PubMed Link: 33546406
Variant Present in the following documents:
  • Main text
  • genes-12-00221.pdf
View BVdb publication page



Dissecting dynamics and differences of selective pressures in the evolution of human pigmentation.

Biology Open
Huang, Xin X; Wang, Sijia S; Jin, Li L; He, Yungang Y
Publication Date: 2021-02-09

Variant appearance in text: rs1805006
PubMed Link: 33495209
Variant Present in the following documents:
  • Main text
  • biolopen-10-056523.pdf
View BVdb publication page



Germline variants are associated with increased primary melanoma tumor thickness at diagnosis.

Human Molecular Genetics
Mangantig, Ernest E; MacGregor, Stuart S; Iles, Mark M MM; Scolyer, Richard A RA; Cust, Anne E AE; Hayward, Nicholas K NK; Montgomery, Grant W GW; Duffy, David L DL; Thompson, John F JF; Henders, Anjali A; Bowdler, Lisa L; Rowe, Casey C; Cadby, Gemma G; Mann, Graham J GJ; Whiteman, David C DC; Long, Georgina V GV; Ward, Sarah V SV; Khosrotehrani, Kiarash K; Barrett, Jennifer H JH; Law, Matthew H MH
Publication Date: 2021-01-06

Variant appearance in text: N/A
PubMed Link: 33410475
Variant Present in the following documents:
View BVdb publication page



Skin pigmentation and its control: From ultraviolet radiation to stem cells.

Experimental Dermatology
Yardman-Frank, Joseph Michael JM; Fisher, David E DE
Publication Date: 2021-04

Variant appearance in text: N/A
PubMed Link: 33320376
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
Jorgenson, Eric E; Choquet, Hélène H; Yin, Jie J; Hoffmann, Thomas J TJ; Banda, Yambazi Y; Kvale, Mark N MN; Risch, Neil N; Schaefer, Catherine C; Asgari, Maryam M MM
Publication Date: 2020-12-14

Variant appearance in text: rs1805006
PubMed Link: 33318654
Variant Present in the following documents:
  • Main text
  • 42003_2020_Article_1461.pdf
View BVdb publication page



Investigating DNA methylation as a potential mediator between pigmentation genes, pigmentary traits and skin cancer.

Pigment Cell & Melanoma Research
Bonilla, Carolina C; Bertoni, Bernardo B; Min, Josine L JL; Hemani, Gibran G; , ; Elliott, Hannah R HR
Publication Date: 2021-09

Variant appearance in text: N/A
PubMed Link: 33248005
Variant Present in the following documents:
View BVdb publication page



MC1R variants and cutaneous melanoma risk according to histological type, body site, and Breslow thickness: a pooled analysis from the M-SKIP project.

Melanoma Research
Caini, Saverio S; Gandini, Sara S; Botta, Francesca F; Tagliabue, Elena E; Raimondi, Sara S; Nagore, Eduardo E; Zanna, Ines I; Maisonneuve, Patrick P; Newton-Bishop, Julia J; Polsky, David D; Lazovich, DeAnn D; Kumar, Rajiv R; Kanetsky, Peter A PA; Hoiom, Veronica V; Ghiorzo, Paola P; Landi, Maria Teresa MT; Ribas, Gloria G; Menin, Chiara C; Stratigos, Alexander J AJ; Palmieri, Giuseppe G; Guida, Gabriella G; García-Borrón, Jose Carlos JC; Nan, Hongmei H; Little, Julian J; Sera, Francesco F; Puig, Susana S; Fargnoli, Maria Concetta MC; ,
Publication Date: 2020-10

Variant appearance in text: N/A
PubMed Link: 32898390
Variant Present in the following documents:
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
Stefanaki, I I; Stratigos, A J AJ; Kypreou, K P KP; Evangelou, E E; Gandini, S S; Maisonneuve, P P; Polsky, D D; Lazovich, D D; Newton-Bishop, J J; Kanetsky, P A PA; Puig, S S; Gruis, N A NA; Ghiorzo, P P; Pellegrini, C C; De Nicolo, A A; Ribas, G G; Guida, G G; Garcia-Borron, J C JC; Fargnoli, M C MC; Nan, H H; Landi, M T MT; Little, J J; Sera, F F; Raimondi, S S; ,
Publication Date: 2021-02

Variant appearance in text: N/A
PubMed Link: 32780924
Variant Present in the following documents:
View BVdb publication page



Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data.

Bmc Genomics
Pośpiech, Ewelina E; Kukla-Bartoszek, Magdalena M; Karłowska-Pik, Joanna J; Zieliński, Piotr P; Woźniak, Anna A; Boroń, Michał M; Dąbrowski, Michał M; Zubańska, Magdalena M; Jarosz, Agata A; Grzybowski, Tomasz T; Płoski, Rafał R; Spólnicka, Magdalena M; Branicki, Wojciech W
Publication Date: 2020-08-05

Variant appearance in text: rs1805006
PubMed Link: 32758128
Variant Present in the following documents:
  • 12864_2020_6926_MOESM1_ESM.pdf
View BVdb publication page



Pre-clinical modeling of cutaneous melanoma.

Nature Communications
Rebecca, Vito W VW; Somasundaram, Rajasekharan R; Herlyn, Meenhard M
Publication Date: 2020-06-05

Variant appearance in text: MC1R: Asp84Glu
PubMed Link: 32504051
Variant Present in the following documents:
  • 41467_2020_Article_15546.pdf
View BVdb publication page



Melanoma Risk and Melanocyte Biology.

Acta Dermato-Venereologica
Bertrand, Julie U JU; Steingrimsson, Eirikur E; Jouenne, Fanélie F; Bressac-de Paillerets, Brigitte B; Larue, Lionel L
Publication Date: 2020-06-03

Variant appearance in text: MC1R: D84E
PubMed Link: 32346747
Variant Present in the following documents:
  • Main text
  • ActaDV-100-11-5749.pdf
View BVdb publication page



Corded Ware cultural complexity uncovered using genomic and isotopic analysis from south-eastern Poland.

Scientific Reports
Linderholm, Anna A; Kılınç, Gülşah Merve GM; Szczepanek, Anita A; Włodarczak, Piotr P; Jarosz, Paweł P; Belka, Zdzislaw Z; Dopieralska, Jolanta J; Werens, Karolina K; Górski, Jacek J; Mazurek, Mirosław M; Hozer, Monika M; Rybicka, Małgorzata M; Ostrowski, Mikołaj M; Bagińska, Jolanta J; Koman, Wiesław W; Rodríguez-Varela, Ricardo R; Storå, Jan J; Götherström, Anders A; Krzewińska, Maja M
Publication Date: 2020-04-14

Variant appearance in text: rs1805006
PubMed Link: 32303690
Variant Present in the following documents:
  • 41598_2020_63138_MOESM2_ESM.xlsx, sheet 11
  • 41598_2020_63138_MOESM2_ESM.xlsx, sheet 12
View BVdb publication page



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

Nature Communications
Montero-Melendez, Trinidad T; Nagano, Ai A; Chelala, Claude C; Filer, Andrew A; Buckley, Christopher D CD; Perretti, Mauro M
Publication Date: 2020-02-06

Variant appearance in text: MC1R: D84E
PubMed Link: 32029712
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_14421.pdf
View BVdb publication page



Detangling red hair from pain: phenotype-specific contributions from different genetic variants in melanocortin-1 receptor.

Pain
Zorina-Lichtenwalter, Katerina K; Maixner, William W; Diatchenko, Luda L
Publication Date: 2020-05

Variant appearance in text: rs1805006
PubMed Link: 31834199
Variant Present in the following documents:
  • Main text
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
White, Kirsten A M KAM; Dailey, Yvonne T YT; Guest, Dolores D DD; Zielaskowski, Kate K; Robers, Erika E; Sussman, Andrew A; Hunley, Keith K; Hughes, Christopher R CR; Schwartz, Matthew R MR; Kaphingst, Kimberly A KA; Buller, David B DB; Hay, Jennifer L JL; Berwick, Marianne M
Publication Date: 2019-11

Variant appearance in text: MC1R: D84E
PubMed Link: 31488411
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
Lira, F E FE; Podlipnik, S S; Potrony, M M; Tell-Martí, G G; Calbet-Llopart, N N; Barreiro, A A; Carrera, C C; Malvehy, J J; Puig, S S
Publication Date: 2020-01

Variant appearance in text: MC1R: D84E
PubMed Link: 31016712
Variant Present in the following documents:
  • Main text
  • BJD-182-138.pdf
View BVdb publication page



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

The Lancet. Child & Adolescent Health
Pellegrini, Cristina C; Botta, Francesca F; Massi, Daniela D; Martorelli, Claudia C; Facchetti, Fabio F; Gandini, Sara S; Maisonneuve, Patrick P; Avril, Marie-Françoise MF; Demenais, Florence F; Bressac-de Paillerets, Brigitte B; Hoiom, Veronica V; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Marrett, Loraine L; Zanetti, Roberto R; Dwyer, Terence T; Thomas, Nancy E NE; Begg, Colin B CB; Berwick, Marianne M; Puig, Susana S; Potrony, Miriam M; Nagore, Eduardo E; Ghiorzo, Paola P; Menin, Chiara C; Manganoni, Ausilia Maria AM; Rodolfo, Monica M; Brugnara, Sonia S; Passoni, Emanuela E; Sekulovic, Lidija Kandolf LK; Baldini, Federica F; Guida, Gabriella G; Stratigos, Alexandros A; Ozdemir, Fezal F; Ayala, Fabrizio F; Fernandez-de-Misa, Ricardo R; Quaglino, Pietro P; Ribas, Gloria G; Romanini, Antonella A; Migliano, Emilia E; Stanganelli, Ignazio I; Kanetsky, Peter A PA; Pizzichetta, Maria Antonietta MA; García-Borrón, Jose Carlos JC; Nan, Hongmei H; Landi, Maria Teresa MT; Little, Julian J; Newton-Bishop, Julia J; Sera, Francesco F; Fargnoli, Maria Concetta MC; Raimondi, Sara S; , ; , ; ,
Publication Date: 2019-05

Variant appearance in text: MC1R: D84E
PubMed Link: 30872112
Variant Present in the following documents:
  • Main text
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cAMP-mediated regulation of melanocyte genomic instability: A melanoma-preventive strategy.

Advances In Protein Chemistry And Structural Biology
Holcomb, Nathaniel C NC; Bautista, Robert-Marlo RM; Jarrett, Stuart G SG; Carter, Katharine M KM; Gober, Madeline Krentz MK; D'Orazio, John A JA
Publication Date: 2019

Variant appearance in text: MC1R: D84E
PubMed Link: 30798934
Variant Present in the following documents:
  • Main text
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Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.

Nature Communications
Morgan, Michael D MD; Pairo-Castineira, Erola E; Rawlik, Konrad K; Canela-Xandri, Oriol O; Rees, Jonathan J; Sims, David D; Tenesa, Albert A; Jackson, Ian J IJ
Publication Date: 2018-12-10

Variant appearance in text: N/A
PubMed Link: 30531825
Variant Present in the following documents:
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Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30

Variant appearance in text: N/A
PubMed Link: 30380422
Variant Present in the following documents:
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Clinical and Biological Characterization of Skin Pigmentation Diversity and Its Consequences on UV Impact.

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

Variant appearance in text: rs1805006
PubMed Link: 30205563
Variant Present in the following documents:
  • Main text
  • ijms-19-02668.pdf
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Hierarchical modeling of melanocortin 1 receptor variants with skin cancer risk.

Genetic Epidemiology
Joshi, Amit D AD; Li, Xin X; Kraft, Peter P; Han, Jiali J
Publication Date: 2018-09

Variant appearance in text: N/A
PubMed Link: 29968341
Variant Present in the following documents:
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Contributions by MC1R Variants to Melanoma Risk in Males and Females.

Jama Dermatology
Wendt, Judith J; Mueller, Christoph C; Rauscher, Sabine S; Fae, Ingrid I; Fischer, Gottfried G; Okamoto, Ichiro I
Publication Date: 2018-07-01

Variant appearance in text: N/A
PubMed Link: 29898205
Variant Present in the following documents:
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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
Tagliabue, Elena E; Gandini, Sara S; Bellocco, Rino R; Maisonneuve, Patrick P; Newton-Bishop, Julia J; Polsky, David D; Lazovich, DeAnn D; Kanetsky, Peter A PA; Ghiorzo, Paola P; Gruis, Nelleke A NA; Landi, Maria Teresa MT; Menin, Chiara C; Fargnoli, Maria Concetta MC; García-Borrón, Jose Carlos JC; Han, Jiali J; Little, Julian J; Sera, Francesco F; Raimondi, Sara S
Publication Date: 2018

Variant appearance in text: N/A
PubMed Link: 29795986
Variant Present in the following documents:
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CDKN2A/CDK4 Status in Greek Patients with Familial Melanoma and Association with Clinico-epidemiological Parameters.

Acta Dermato-Venereologica
Karagianni, Fani F; Njauw, Ching-Ni CN; Kypreou, Katerina P KP; Stergiopoulou, Aravela A; Plaka, Michaela M; Polydorou, Dorothea D; Chasapi, Vasiliki V; Pappas, Leontios L; Stratigos, Ioannis A IA; Champsas, Gregory G; Panagiotou, Peter P; Gogas, Helen H; Evangelou, Evangelos E; Tsao, Hensin H; Stratigos, Alexander J AJ; Stefanaki, Irene I
Publication Date: 2018-10-10

Variant appearance in text: rs1805006
PubMed Link: 29774366
Variant Present in the following documents:
  • Main text
  • nihms-1016697.pdf
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Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure.

Nature Communications
Visconti, Alessia A; Duffy, David L DL; Liu, Fan F; Zhu, Gu G; Wu, Wenting W; Chen, Yan Y; Hysi, Pirro G PG; Zeng, Changqing C; Sanna, Marianna M; Iles, Mark M MM; Kanetsky, Peter A PA; Demenais, Florence F; Hamer, Merel A MA; Uitterlinden, Andre G AG; Ikram, M Arfan MA; Nijsten, Tamar T; Martin, Nicholas G NG; Kayser, Manfred M; Spector, Tim D TD; Han, Jiali J; Bataille, Veronique V; Falchi, Mario M
Publication Date: 2018-05-08

Variant appearance in text: N/A
PubMed Link: 29739929
Variant Present in the following documents:
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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
Hysi, Pirro G PG; Valdes, Ana M AM; Liu, Fan F; Furlotte, Nicholas A NA; Evans, David M DM; Bataille, Veronique V; Visconti, Alessia A; Hemani, Gibran G; McMahon, George G; Ring, Susan M SM; Smith, George Davey GD; Duffy, David L DL; Zhu, Gu G; Gordon, Scott D SD; Medland, Sarah E SE; Lin, Bochao D BD; Willemsen, Gonneke G; Jan Hottenga, Jouke J; Vuckovic, Dragana D; Girotto, Giorgia G; Gandin, Ilaria I; Sala, Cinzia C; Concas, Maria Pina MP; Brumat, Marco M; Gasparini, Paolo P; Toniolo, Daniela D; Cocca, Massimiliano M; Robino, Antonietta A; Yazar, Seyhan S; Hewitt, Alex W AW; Chen, Yan Y; Zeng, Changqing C; Uitterlinden, Andre G AG; Ikram, M Arfan MA; Hamer, Merel A MA; van Duijn, Cornelia M CM; Nijsten, Tamar T; Mackey, David A DA; Falchi, Mario M; Boomsma, Dorret I DI; Martin, Nicholas G NG; , ; Hinds, David A DA; Kayser, Manfred M; Spector, Timothy D TD
Publication Date: 2018-05

Variant appearance in text: rs1805006
PubMed Link: 29662168
Variant Present in the following documents:
  • NIHMS76542-supplement-Supplementary_notes_and_tables.pdf
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Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15

Variant appearance in text: rs1805006
PubMed Link: 29449575
Variant Present in the following documents:
  • 41467_2017_2688_MOESM14_ESM.xls, sheet 4
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