Publications:

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Aberrant expression of agouti signaling protein (ASIP) as a cause of monogenic severe childhood obesity.

Nature Metabolism

Kempf, Elena E; Landgraf, Kathrin K; Stein, Robert R; Hanschkow, Martha M; Hilbert, Anja A; Abou Jamra, Rami R; Boczki, Paula P; Herberth, Gunda G; Kühnapfel, Andreas A; Tseng, Yu-Hua YH; Stäubert, Claudia C; Schöneberg, Torsten T; Kühnen, Peter P; Rayner, N William NW; Zeggini, Eleftheria E; Kiess, Wieland W; Blüher, Matthias M; Körner, Antje A

Publication Date: 2022-12-19

Variant appearance in text: MC1R: R213W; rs200000734

PubMed Link: 36536132

Variant Present in the following documents:

• 42255_2022_703_MOESM1_ESM.pdf

View BVdb publication page

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: MC1R: R213W; rs200000734

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Effect of polymorphisms in the 5'-flanking sequence of MC1R on feather color in Taihang chickens.

Poultry Science

Fan, Yekai Y; Wu, Xianwen X; Li, Yamin Y; Han, Haiyin H; Zhang, Yifan Y; Yang, Junqi J; Liu, Yufang Y

Publication Date: 2022-12

Variant appearance in text: MC1R: 637C>T

PubMed Link: 36283141

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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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: MC1R: R213W; rs200000734

PubMed Link: 35845857

Variant Present in the following documents:

• crc-21-0114-s01.xlsx, sheet 1

View BVdb publication page

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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: MC1R: Arg213Trp; rs200000734

PubMed Link: 35452484

Variant Present in the following documents:

• pone.0267286.s002.xlsx, sheet 1

View BVdb publication page

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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: rs200000734

PubMed Link: 34326492

Variant Present in the following documents:

• NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1

View BVdb publication page

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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: rs200000734

PubMed Link: 34326492

Variant Present in the following documents:

• NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1

View BVdb publication page

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: MC1R: R213W

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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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

Ozola, Aija A; Ruklisa, Dace D; Pjanova, Dace D

Publication Date: 2019-11

Variant appearance in text: MC1R: 637C>T; Arg213Trp; rs200000734

PubMed Link: 31612033

Variant Present in the following documents:

• Main text
• ol-18-05-5225.pdf
• Supplementary_Data.pdf

View BVdb publication page

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Rare, functional, somatic variants in gene families linked to cancer genes: GPCR signaling as a paradigm.

Oncogene

Raimondi, Francesco F; Inoue, Asuka A; Kadji, Francois M N FMN; Shuai, Ni N; Gonzalez, Juan-Carlos JC; Singh, Gurdeep G; de la Vega, Alicia Alonso AA; Sotillo, Rocio R; Fischer, Bernd B; Aoki, Junken J; Gutkind, J Silvio JS; Russell, Robert B RB

Publication Date: 2019-09

Variant appearance in text: MC1R: R213W

PubMed Link: 31337866

Variant Present in the following documents:

• 41388_2019_895_MOESM2_ESM.xlsx, sheet 11

View BVdb publication page

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

Human Molecular Genetics

Zorina-Lichtenwalter, Katerina K; Lichtenwalter, Ryan N RN; Zaykin, Dima V DV; Parisien, Marc M; Gravel, Simon S; Bortsov, Andrey A; Diatchenko, Luda L

Publication Date: 2019-06-15

Variant appearance in text: rs200000734

PubMed Link: 30657907

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: MC1R: R213W; rs200000734

PubMed Link: 30531825

Variant Present in the following documents:

• Main text
• 41467_2018_Article_7691.pdf

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs200000734

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: MC1R: 637C>T; R213W; rs200000734

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s002.xlsx, sheet 1

View BVdb publication page

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Cutaneous melanoma primary site is linked to nevus density.

Oncotarget

Martin-Gorgojo, Alejandro A; Llinares, Marta M; Virós, Amaya A; Requena, Celia C; Garcia-Casado, Zaida Z; Traves, Víctor V; Kumar, Rajiv R; Nagore, Eduardo E

Publication Date: 2017-11-17

Variant appearance in text: MC1R: R213W

PubMed Link: 29228734

Variant Present in the following documents:

• oncotarget-08-98876-s001.pdf

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: MC1R: R213W; rs200000734

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 1

View BVdb publication page

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Germline MC1R status influences somatic mutation burden in melanoma.

Nature Communications

Robles-Espinoza, Carla Daniela CD; Roberts, Nicola D ND; Chen, Shuyang S; Leacy, Finbarr P FP; Alexandrov, Ludmil B LB; Pornputtapong, Natapol N; Halaban, Ruth R; Krauthammer, Michael M; Cui, Rutao R; Timothy Bishop, D D; Adams, David J DJ

Publication Date: 2016-07-12

Variant appearance in text: MC1R: Arg213Trp

PubMed Link: 27403562

Variant Present in the following documents:

• Main text
• ncomms12064-s1.pdf
• ncomms12064.pdf

View BVdb publication page

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

Plos One

Hepp, Diego D; Gonçalves, Gislene Lopes GL; de Freitas, Thales Renato Ochotorena TR

Publication Date: 2015

Variant appearance in text: MC1R: R213W; rs200000734

PubMed Link: 25794181

Variant Present in the following documents:

View BVdb publication page

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: MC1R: R213W

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1

View BVdb publication page

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Genetic factors associated with naevus count and dermoscopic patterns: preliminary results from the Study of Nevi in Children (SONIC).

The British Journal Of Dermatology

Orlow, I I; Satagopan, J M JM; Berwick, M M; Enriquez, H L HL; White, K A M KA; Cheung, K K; Dusza, S W SW; Oliveria, S A SA; Marchetti, M A MA; Scope, A A; Marghoob, A A AA; Halpern, A C AC

Publication Date: 2015-04

Variant appearance in text: MC1R: R213W; rs200000734

PubMed Link: 25307738

Variant Present in the following documents:

• bjd0172-1081-sd1.pdf

View BVdb publication page

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A large French case-control study emphasizes the role of rare Mc1R variants in melanoma risk.

Biomed Research International

Hu, Hui-Han HH; Benfodda, Mériem M; Dumaz, Nicolas N; Gazal, Steven S; Descamps, Vincent V; Bourillon, Agnès A; Basset-Seguin, Nicole N; Riffault, Angélique A; Ezzedine, Khaled K; Bagot, Martine M; Bensussan, Armand A; Saiag, Philippe P; Grandchamp, Bernard B; Soufir, Nadem N

Publication Date: 2014

Variant appearance in text: MC1R: 637C>T; R213W

PubMed Link: 24982914

Variant Present in the following documents:

• Main text
• 925716.f1.pdf
• BMRI2014-925716.pdf

View BVdb publication page

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Dermoscopic features of cutaneous melanoma are associated with clinical characteristics of patients and tumours and with MC1R genotype.

Journal Of The European Academy Of Dermatology And Venereology : Jeadv

Fargnoli, M C MC; Sera, F F; Suppa, M M; Piccolo, D D; Landi, M T MT; Chiarugi, A A; Pellegrini, C C; Seidenari, S S; Peris, K K

Publication Date: 2014-12

Variant appearance in text: MC1R: R213W

PubMed Link: 24588892

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: MC1R: R213W

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page

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Distribution of MC1R variants among melanoma subtypes: p.R163Q is associated with lentigo maligna melanoma in a Mediterranean population.

The British Journal Of Dermatology

Puig-Butillé, J A JA; Carrera, C C; Kumar, R R; Garcia-Casado, Z Z; Badenas, C C; Aguilera, P P; Malvehy, J J; Nagore, E E; Puig, S S

Publication Date: 2013-10

Variant appearance in text: MC1R: 637C>T; R213W

PubMed Link: 23647022

Variant Present in the following documents:

• Main text

View BVdb publication page

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Variants in melanocortin 1 receptor gene contribute to risk of melanoma--a direct sequencing analysis in a Texas population.

Pigment Cell & Melanoma Research

Guan, Xiaoxiang X; Niu, Jiangong J; Liu, Zhensheng Z; Wang, Li-E LE; Amos, Christopher I CI; Lee, Jeffrey E JE; Gershenwald, Jeffrey E JE; Grimm, Elizabeth A EA; Wei, Qingyi Q

Publication Date: 2013-05

Variant appearance in text: MC1R: 637C>T; Arg213Trp

PubMed Link: 23360207

Variant Present in the following documents:

• Main text

View BVdb publication page

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MC1R genotypes and risk of melanoma before age 40 years: a population-based case-control-family study.

International Journal Of Cancer

Cust, Anne E AE; Goumas, Chris C; Holland, Elizabeth A EA; Agha-Hamilton, Chantelle C; Aitken, Joanne F JF; Armstrong, Bruce K BK; Giles, Graham G GG; Kefford, Richard F RF; Schmid, Helen H; Hopper, John L JL; Mann, Graham J GJ; Jenkins, Mark A MA

Publication Date: 2012-08-01

Variant appearance in text: MC1R: R213W

PubMed Link: 22095472

Variant Present in the following documents:

• Main text

View BVdb publication page

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Role of key-regulator genes in melanoma susceptibility and pathogenesis among patients from South Italy.

Bmc Cancer

Casula, Milena M; Muggiano, Antonio A; Cossu, Antonio A; Budroni, Mario M; Caracò, Corrado C; Ascierto, Paolo A PA; Pagani, Elena E; Stanganelli, Ignazio I; Canzanella, Sergio S; Sini, Mariacristina M; Palomba, Grazia G; , ; Palmieri, Giuseppe G

Publication Date: 2009-10-03

Variant appearance in text: MC1R: R213W

PubMed Link: 19799798

Variant Present in the following documents:

• Main text

View BVdb publication page

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Germline variation of the melanocortin-1 receptor does not explain shared risk for melanoma and thyroid cancer.

Experimental Dermatology

Bauer, Jürgen J; Weng, Julie J; Kebebew, Electron E; Soares, Paula P; Trovisco, Vitor V; Bastian, Boris C BC

Publication Date: 2009-06

Variant appearance in text: MC1R: R213W

PubMed Link: 19493000

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families.

Bmc Medical Genetics

Peric, Barbara B; Cerkovnik, Petra P; Novakovic, Srdjan S; Zgajnar, Janez J; Besic, Nikola N; Hocevar, Marko M

Publication Date: 2008-09-19

Variant appearance in text: MC1R: R213W

PubMed Link: 18803811

Variant Present in the following documents:

• Main text

View BVdb publication page

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Nucleotide diversity and population differentiation of the melanocortin 1 receptor gene, MC1R.

Bmc Genetics

Savage, Sharon A SA; Gerstenblith, Meg R MR; Goldstein, Alisa M AM; Mirabello, Lisa L; Fargnoli, Maria Concetta MC; Peris, Ketty K; Landi, Maria Teresa MT

Publication Date: 2008-04-10

Variant appearance in text: MC1R: 637C>T; R213W

PubMed Link: 18402696

Variant Present in the following documents:

• Main text
• 1471-2156-9-31.pdf

View BVdb publication page

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