MC1R c.478C>T ;(p.R160W)

Variant ID: 16-89986144-C-T

NM_002386.3(MC1R):c.478C>T;(p.R160W)

This variant was identified in 294 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: rs1805008
PubMed Link: 37239480
Variant Present in the following documents:
  • Main text
  • genes-14-01120.pdf
View BVdb publication page



Cutaneous Melanoma and Glioblastoma Multiforme Association-Case Presentation and Literature Review.

Diagnostics (Basel, Switzerland)
Orzan, Olguța Anca OA; Giurcăneanu, Călin C; Dima, Bogdan B; Dima, Monica Beatrice MB; Ion, Ana A; Bălăceanu, Beatrice B; Nițipir, Cornelia C; Tudose, Irina I; Nicolae, Cătălina Andreea CA; Dorobanțu, Alexandra Maria AM
Publication Date: 2023-03-09

Variant appearance in text: MC1R: Arg160Trp
PubMed Link: 36980355
Variant Present in the following documents:
  • Main text
  • diagnostics-13-01046.pdf
View BVdb publication page



Mechanisms and implications in gene polymorphism mediated diverse reponses to sedatives, analgesics and muscle relaxants.

Korean Journal Of Anesthesiology
Sun, Yan Y; Zhu, Hongyu H; Esmaeili, Elham E; Tang, Xue X; Wu, Zhilin Z
Publication Date: 2022-12-05

Variant appearance in text: MC1R: R160W
PubMed Link: 36935389
Variant Present in the following documents:
  • Main text
  • kja-22654.pdf
View BVdb publication page



MC1R 'r' allele does not increase melanoma risk in MITF E318K carriers.

The British Journal Of Dermatology
Wallingford, Courtney K CK; Demeshko, Anastassia A; Krishnankutty Krishnakripa, Asha A; Smit, Darren J DJ; Duffy, David L DL; Betz-Stablein, Brigid B; Pflugfelder, Annette A; Jagirdar, Kasturee K; Holland, Elizabeth E; Mann, Graham J GJ; Primiero, Clare A CA; Yanes, Tatiane T; Malvehy, Josep J; Badenas, Cèlia C; Carrera, Cristina C; Aguilera, Paula P; Olsen, Catherine M CM; Ward, Sarah V SV; Haass, Nikolas K NK; Sturm, Richard A RA; Puig, Susanna S; Whiteman, David C DC; Law, Matthew H MH; Cust, Anne E AE; Potrony, Miriam M; Soyer, H Peter HP; McInerney-Leo, Aideen M AM
Publication Date: 2023-03-05

Variant appearance in text: MC1R: R160W; rs1805008
PubMed Link: 36879448
Variant Present in the following documents:
  • Main text
  • ljad041.pdf
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: rs1805008
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: rs1805008
PubMed Link: 36707655
Variant Present in the following documents:
  • Main text
  • 41598_2023_Article_28774.pdf
View BVdb publication page



Adrenal Dysfunction in Mitochondrial Diseases.

International Journal Of Molecular Sciences
Corkery-Hayward, Madeleine M; Metherell, Louise A LA
Publication Date: 2023-01-06

Variant appearance in text: MC1R: R160W
PubMed Link: 36674647
Variant Present in the following documents:
  • ijms-24-01126.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: R160W
PubMed Link: 36551302
Variant Present in the following documents:
  • Main text
  • biomolecules-12-01874.pdf
View BVdb publication page



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: R160W; rs1805008
PubMed Link: 36536132
Variant Present in the following documents:
  • 42255_2022_703_MOESM1_ESM.pdf
View BVdb publication page



Redheaded women are more sexually active than other women, but it is probably due to their suitors.

Frontiers In Psychology
Sýkorová, Kateřina K; Fiala, Vojtěch V; Hlaváčová, Jana J; Kaňková, Šárka Š; Flegr, Jaroslav J
Publication Date: 2022

Variant appearance in text: MC1R: R160W
PubMed Link: 36524175
Variant Present in the following documents:
  • Main text
  • fpsyg-13-1000753.pdf
View BVdb publication page



Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.

Cell
Waldman, Shamam S; Backenroth, Daniel D; Harney, Éadaoin É; Flohr, Stefan S; Neff, Nadia C NC; Buckley, Gina M GM; Fridman, Hila H; Akbari, Ali A; Rohland, Nadin N; Mallick, Swapan S; Olalde, Iñigo I; Cooper, Leo L; Lomes, Ariel A; Lipson, Joshua J; Cano Nistal, Jorge J; Yu, Jin J; Barzilai, Nir N; Peter, Inga I; Atzmon, Gil G; Ostrer, Harry H; Lencz, Todd T; Maruvka, Yosef E YE; Lämmerhirt, Maike M; Beider, Alexander A; Rutgers, Leonard V LV; Renson, Virginie V; Prufer, Keith M KM; Schiffels, Stephan S; Ringbauer, Harald H; Sczech, Karin K; Carmi, Shai S; Reich, David D
Publication Date: 2022-11-22

Variant appearance in text: rs1805008
PubMed Link: 36455558
Variant Present in the following documents:
  • NIHMS1852590-supplement-MMC2.xlsx, sheet 6
  • NIHMS1852590-supplement-MMC1.pdf
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: MC1R: R160W
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
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: R160W
PubMed Link: 35959144
Variant Present in the following documents:
  • JSC2022-4046554.pdf
View BVdb publication page



Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics
Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y
Publication Date: 2022

Variant appearance in text: MC1R: 478C>T; Arg160Trp; rs1805008
PubMed Link: 35899134
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
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: MC1R: R160W; rs1805008
PubMed Link: 35845857
Variant Present in the following documents:
  • crc-21-0114-s01.xlsx, sheet 1
View BVdb publication page



Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A
Publication Date: 2022-08-15

Variant appearance in text: MC1R: R160W; rs1805008
PubMed Link: 35653148
Variant Present in the following documents:
  • ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5
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: MC1R: Arg160Trp; rs1805008
PubMed Link: 35452484
Variant Present in the following documents:
  • Main text
  • pone.0267286.s002.xlsx, sheet 1
  • pone.0267286.pdf
View BVdb publication page



Genome-wide association study of actinic keratosis identifies new susceptibility loci implicated in pigmentation and immune regulation pathways.

Communications Biology
Kim, Yuhree Y; Yin, Jie J; Huang, Hailiang H; Jorgenson, Eric E; Choquet, Hélène H; Asgari, Maryam M MM
Publication Date: 2022-04-21

Variant appearance in text: rs1805008
PubMed Link: 35449187
Variant Present in the following documents:
  • Main text
  • 42003_2022_3301_MOESM1_ESM.pdf
  • 42003_2022_Article_3301.pdf
View BVdb publication page



Defining novel causal SNPs and linked phenotypes at melanoma-associated loci.

Human Molecular Genetics
Castaneda-Garcia, Carolina C; Iyer, Vivek V; Nsengimana, Jérémie J; Trower, Adam A; Droop, Alastair A; Brown, Kevin M KM; Choi, Jiyeon J; Zhang, Tongwu T; Harland, Mark M; Newton-Bishop, Julia A JA; Bishop, D Timothy DT; Adams, David J DJ; Iles, Mark M MM; Robles-Espinoza, Carla Daniela CD
Publication Date: 2022-08-25

Variant appearance in text: MC1R: R160W; rs1805008
PubMed Link: 35357426
Variant Present in the following documents:
  • supplementary_table_1_ddac074.xlsx, sheet 1
View BVdb publication page



The Interplay between Tumour Microenvironment Components in Malignant Melanoma.

Medicina (Kaunas, Lithuania)
Amalinei, Cornelia C; Grigoraș, Adriana A; Lozneanu, Ludmila L; Căruntu, Irina-Draga ID; Giușcă, Simona-Eliza SE; Balan, Raluca Anca RA
Publication Date: 2022-03-02

Variant appearance in text: MC1R: R160W
PubMed Link: 35334544
Variant Present in the following documents:
  • Main text
  • medicina-58-00365.pdf
View BVdb publication page



Genetic ancestry in precision medicine is reshaping the race debate.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Krainc, Talia T; Fuentes, Agustín A
Publication Date: 2022-03-22

Variant appearance in text: MC1R: R160W
PubMed Link: 35294278
Variant Present in the following documents:
  • pnas.202203033.pdf
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: rs1805008
PubMed Link: 35176104
Variant Present in the following documents:
  • Main text
  • pone.0264125.pdf
View BVdb publication page



Targeting GPCRs and Their Signaling as a Therapeutic Option in Melanoma.

Cancers
Raymond, Jérémy H JH; Aktary, Zackie Z; Larue, Lionel L; Delmas, Véronique V
Publication Date: 2022-01-29

Variant appearance in text: MC1R: R160W
PubMed Link: 35158973
Variant Present in the following documents:
  • Main text
View BVdb publication page



Targeting GPCRs and Their Signaling as a Therapeutic Option in Melanoma.

Cancers
Raymond, Jérémy H JH; Aktary, Zackie Z; Larue, Lionel L; Delmas, Véronique V
Publication Date: 2022-01-29

Variant appearance in text: MC1R: R160W
PubMed Link: 35158973
Variant Present in the following documents:
  • Main text
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: MC1R: R160W; rs1805008
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families.

Plos One
Fidalgo, Felipe F; Torrezan, Giovana Tardin GT; Sá, Bianca Costa Soares de BCS; Barros, Bruna Durães de Figueiredo BDF; Moredo, Luciana Facure LF; Valieris, Renan R; de Souza, Sandro J SJ; Duprat, João Pereira JP; Krepischi, Ana Cristina Victorino ACV; Carraro, Dirce Maria DM
Publication Date: 2022

Variant appearance in text: MC1R: Arg160Trp; rs1805008
PubMed Link: 35085295
Variant Present in the following documents:
  • Main text
  • pone.0262419.pdf
View BVdb publication page



Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families.

Plos One
Fidalgo, Felipe F; Torrezan, Giovana Tardin GT; Sá, Bianca Costa Soares de BCS; Barros, Bruna Durães de Figueiredo BDF; Moredo, Luciana Facure LF; Valieris, Renan R; de Souza, Sandro J SJ; Duprat, João Pereira JP; Krepischi, Ana Cristina Victorino ACV; Carraro, Dirce Maria DM
Publication Date: 2022

Variant appearance in text: MC1R: Arg160Trp; rs1805008
PubMed Link: 35085295
Variant Present in the following documents:
  • Main text
  • pone.0262419.pdf
View BVdb publication page



PARP1 Inhibitor and Trabectedin Combination Does Not Increase Tumor Mutational Burden in Advanced Sarcomas-A Preclinical and Translational Study.

Cancers
Pignochino, Ymera Y; Crisafulli, Giovanni G; Giordano, Giorgia G; Merlini, Alessandra A; Berrino, Enrico E; Centomo, Maria Laura ML; Chiabotto, Giulia G; Brusco, Silvia S; Basiricò, Marco M; Maldi, Elena E; Pisacane, Alberto A; Leuci, Valeria V; Sangiolo, Dario D; D'Ambrosio, Lorenzo L; Aglietta, Massimo M; Kasper, Bernd B; Bardelli, Alberto A; Grignani, Giovanni G
Publication Date: 2021-12-15

Variant appearance in text: MC1R: r160W
PubMed Link: 34944915
Variant Present in the following documents:
  • Main text
View BVdb publication page



PARP1 Inhibitor and Trabectedin Combination Does Not Increase Tumor Mutational Burden in Advanced Sarcomas-A Preclinical and Translational Study.

Cancers
Pignochino, Ymera Y; Crisafulli, Giovanni G; Giordano, Giorgia G; Merlini, Alessandra A; Berrino, Enrico E; Centomo, Maria Laura ML; Chiabotto, Giulia G; Brusco, Silvia S; Basiricò, Marco M; Maldi, Elena E; Pisacane, Alberto A; Leuci, Valeria V; Sangiolo, Dario D; D'Ambrosio, Lorenzo L; Aglietta, Massimo M; Kasper, Bernd B; Bardelli, Alberto A; Grignani, Giovanni G
Publication Date: 2021-12-15

Variant appearance in text: MC1R: r160W
PubMed Link: 34944915
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: R160W
PubMed Link: 34943797
Variant Present in the following documents:
  • Main text
  • cells-10-03288.pdf
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: R160W
PubMed Link: 34943797
Variant Present in the following documents:
  • Main text
  • cells-10-03288.pdf
View BVdb publication page



Genome-wide association study of pain sensitivity assessed by questionnaire and the cold pressor test.

Pain
Fontanillas, Pierre P; Kless, Achim A; Bothmer, John J; Tung, Joyce Y JY; ,
Publication Date: 2022-09-01

Variant appearance in text: MC1R: R160W; rs1805008
PubMed Link: 34924555
Variant Present in the following documents:
  • Main text
  • jop-163-01763.pdf
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: MC1R: Arg160Trp; rs1805008
PubMed Link: 34737440
Variant Present in the following documents:
  • Main text
  • 42003_2021_Article_2764.pdf
  • 42003_2021_2764_MOESM2_ESM.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: R160W
PubMed Link: 34680938
Variant Present in the following documents:
  • Main text
  • genes-12-01543.pdf
View BVdb publication page



Contribution of rare variant associations to neurodegenerative disease presentation.

Npj Genomic Medicine
Dilliott, Allison A AA; Abdelhady, Abdalla A; Sunderland, Kelly M KM; Farhan, Sali M K SMK; Abrahao, Agessandro A; Binns, Malcolm A MA; Black, Sandra E SE; Borrie, Michael M; Casaubon, Leanne K LK; Dowlatshahi, Dar D; Finger, Elizabeth E; Fischer, Corinne E CE; Frank, Andrew A; Freedman, Morris M; Grimes, David D; Hassan, Ayman A; Jog, Mandar M; Kumar, Sanjeev S; Kwan, Donna D; Lang, Anthony E AE; Mandzia, Jennifer J; Masellis, Mario M; McIntyre, Adam D AD; Pasternak, Stephen H SH; Pollock, Bruce G BG; Rajji, Tarek K TK; Rogaeva, Ekaterina E; Sahlas, Demetrios J DJ; Saposnik, Gustavo G; Sato, Christine C; Seitz, Dallas D; Shoesmith, Christen C; Steeves, Thomas D L TDL; Swartz, Richard H RH; Tan, Brian B; Tang-Wai, David F DF; Tartaglia, Maria C MC; Turnbull, John J; Zinman, Lorne L; , ; Hegele, Robert A RA
Publication Date: 2021-09-28

Variant appearance in text: MC1R: R160W
PubMed Link: 34584092
Variant Present in the following documents:
  • Main text
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: MC1R: R160W
PubMed Link: 34573422
Variant Present in the following documents:
  • Main text
  • genes-12-01440.pdf
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: MC1R: R160W
PubMed Link: 34442055
Variant Present in the following documents:
  • Main text
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: MC1R: R160W; rs1805008
PubMed Link: 34439206
Variant Present in the following documents:
  • Main text
  • cancers-13-04053.pdf
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: R160W
PubMed Link: 34356109
Variant Present in the following documents:
  • Main text
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: rs1805008
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: rs1805008
PubMed Link: 34326492
Variant Present in the following documents:
  • Main text
  • nihms-1754145.pdf
  • NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1
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Dermatologic Applications of Polypodium leucotomos: A Literature Review.

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

Variant appearance in text: MC1R: R160W
PubMed Link: 34221229
Variant Present in the following documents:
  • Main text
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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: MC1R: R160W
PubMed Link: 34067022
Variant Present in the following documents:
  • Main text
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The protective role of MC1R in chromosome stability and centromeric integrity in melanocytes.

Cell Death Discovery
Li, Xin X; Mao, Weiwei W; Chen, Jie J; Goding, Colin R CR; Cui, Rutao R; Xu, Zhi-Xiang ZX; Miao, Xiao X
Publication Date: 2021-05-18

Variant appearance in text: MC1R: R160W
PubMed Link: 34001865
Variant Present in the following documents:
  • Main text
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Examining the molecular basis of coat color in a nocturnal primate family (Lorisidae).

Ecology And Evolution
Munds, Rachel A RA; Titus, Chelsea L CL; Moreira, Lais A A LAA; Eggert, Lori S LS; Blomquist, Gregory E GE
Publication Date: 2021-05

Variant appearance in text: MC1R: R160W
PubMed Link: 33976821
Variant Present in the following documents:
  • Main text
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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: rs1805008
PubMed Link: 33546406
Variant Present in the following documents:
  • Main text
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Clinical challenges in interpreting multiple pathogenic mutations in single patients.

Hereditary Cancer In Clinical Practice
Slaught, Christa C; Berry, Elizabeth G EG; Bacik, Lindsay L; Skalet, Alison H AH; Anadiotis, George G; Tuohy, Therese T; Leachman, Sancy A SA
Publication Date: 2021-02-04

Variant appearance in text: MC1R: Arg160Trp
PubMed Link: 33541411
Variant Present in the following documents:
  • Main text
  • 13053_2021_Article_172.pdf
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