Publications:

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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: T314T

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: MC1R: T314T; rs2228478

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

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: T314T; rs2228478

PubMed Link: 35845857

Variant Present in the following documents:

• crc-21-0114-s01.xlsx, sheet 1

View BVdb publication page

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Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.

Plos One

Ueda, Atsushi A; Osawa, Motoki M; Naito, Haruaki H; Ochiai, Eriko E; Kakimoto, Yu Y

Publication Date: 2022

Variant appearance in text: MC1R: 942A>G; Thr314=; rs2228478

PubMed Link: 35486589

Variant Present in the following documents:

• pone.0267751.s001.xls, 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: Thr314Thr; rs2228478

PubMed Link: 35452484

Variant Present in the following documents:

• Main text
• pone.0267286.s002.xlsx, sheet 1
• pone.0267286.pdf

View BVdb publication page

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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: rs2228478

PubMed Link: 35085295

Variant Present in the following documents:

• Main text
• pone.0262419.pdf

View BVdb publication page

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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: rs2228478

PubMed Link: 35085295

Variant Present in the following documents:

• Main text
• pone.0262419.pdf

View BVdb publication page

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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: T314T

PubMed Link: 34573422

Variant Present in the following documents:

• Main text
• genes-12-01440.pdf

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: MC1R: Thr314Thr; rs2228478

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Genetic loci associated with skin pigmentation in African Americans and their effects on vitamin D deficiency.

Plos Genetics

Batai, Ken K; Cui, Zuxi Z; Arora, Amit A; Shah-Williams, Ebony E; Hernandez, Wenndy W; Ruden, Maria M; Hollowell, Courtney M P CMP; Hooker, Stanley E SE; Bathina, Madhavi M; Murphy, Adam B AB; Bonilla, Carolina C; Kittles, Rick A RA

Publication Date: 2021-02

Variant appearance in text: rs2228478

PubMed Link: 33600456

Variant Present in the following documents:

• Main text
• pgen.1009319.pdf

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: MC1R: T314T; rs2228478

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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

Scientific Reports

Smit, Amelia K AK; Collazo-Roman, Marielys M; Vadaparampil, Susan T ST; Valavanis, Stella S; Del Rio, Jocelyn J; Soto, Brenda B; Flores, Idhaliz I; Dutil, Julie J; Kanetsky, Peter A PA

Publication Date: 2020-04-29

Variant appearance in text: MC1R: T314T; rs2228478

PubMed Link: 32350296

Variant Present in the following documents:

• Main text
• 41598_2020_Article_64019.pdf

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: MC1R: 942A>G; Thr314=; rs2228478

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

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: 942A>G; Thr314=; rs2228478

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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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: MC1R: T314T; rs2228478

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: MC1R: 942A>G

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

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: rs2228478

PubMed Link: 30657907

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: rs2228478

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1

View BVdb publication page

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

The Journal Of Surgical Research

Carter, Damien W DW; Sood, Ravi F RF; Seaton, Max E ME; Muffley, Lara A LA; Honari, Shari S; Hocking, Ann M AM; Arbabi, Saman A SA; Gibran, Nicole S NS

Publication Date: 2018-11

Variant appearance in text: MC1R: T314T; rs2228478

PubMed Link: 30278967

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Chinese family affected by lynch syndrome caused by MLH1 mutation.

Bmc Medical Genetics

Jia, Shuqin S; Zhang, Meng M; Sun, Yu Y; Yan, Hai H; Zhao, Fangping F; Li, Ziyu Z; Ji, Jiafu J

Publication Date: 2018-06-22

Variant appearance in text: MC1R: 942A>G; rs2228478

PubMed Link: 29929473

Variant Present in the following documents:

• 12881_2018_605_MOESM2_ESM.xlsx, sheet 2
• 12881_2018_605_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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

Peerj

Li, Xiaohong X; Lee, Katie J KJ; Duffy, David L DL; Xu, Dandan D; Basude, Madhur Eshwar Rao MER; Hu, Ying Y; Zhang, Hang H; Jagirdar, Kasturee K; Soyer, H Peter HP; Dong, Huiting H; Sturm, Richard A RA

Publication Date: 2017

Variant appearance in text: MC1R: T314T

PubMed Link: 29340229

Variant Present in the following documents:

• peerj-05-4168-s002.xlsx, sheet 1

View BVdb publication page

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Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.

Oncotarget

Kürschner, Gerrit G; Zhang, Qingzhou Q; Clima, Rosanna R; Xiao, Yi Y; Busch, Jonas Felix JF; Kilic, Ergin E; Jung, Klaus K; Berndt, Nikolaus N; Bulik, Sascha S; Holzhütter, Hermann-Georg HG; Gasparre, Giuseppe G; Attimonelli, Marcella M; Babu, Mohan M; Meierhofer, David D

Publication Date: 2017-12-01

Variant appearance in text: N/A

PubMed Link: 29285300

Variant Present in the following documents:

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: T314T; rs2228478

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 1
• oncotarget-08-95841-s002.xlsx, sheet 4

View BVdb publication page

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The Genetic Legacy of the Indian Ocean Slave Trade: Recent Admixture and Post-admixture Selection in the Makranis of Pakistan.

American Journal Of Human Genetics

Laso-Jadart, Romuald R; Harmant, Christine C; Quach, Hélène H; Zidane, Nora N; Tyler-Smith, Chris C; Mehdi, Qasim Q; Ayub, Qasim Q; Quintana-Murci, Lluis L; Patin, Etienne E

Publication Date: 2017-12-07

Variant appearance in text: rs2228478

PubMed Link: 29129317

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs2228478

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Amelanotic melanoma in oculocutaneous albinism: a genetic, dermoscopic and reflectance confocal microscopy study.

The British Journal Of Dermatology

Ribero, S S; Carrera, C C; Tell-Marti, G G; Pastorino, C C; Badenas, C C; Garcia, A A; Malvehy, J J; Puig, S S

Publication Date: 2017-12

Variant appearance in text: N/A

PubMed Link: 28555837

Variant Present in the following documents:

View BVdb publication page

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Genetic profiling of a rare condition: co-occurrence of albinism and multiple primary melanoma in a Caucasian family.

Oncotarget

De Summa, Simona S; Guida, Michele M; Tommasi, Stefania S; Strippoli, Sabino S; Pellegrini, Cristina C; Fargnoli, Maria Concetta MC; Pilato, Brunella B; Natalicchio, Iole I; Guida, Gabriella G; Pinto, Rosamaria R

Publication Date: 2017-05-02

Variant appearance in text: MC1R: Thr314=

PubMed Link: 27776349

Variant Present in the following documents:

• Main text
• oncotarget-08-29751.pdf

View BVdb publication page

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

Shock (Augusta, Ga.)

Seaton, Max E ME; Parent, Brodie A BA; Sood, Ravi F RF; Wurfel, Mark M MM; Muffley, Lara A LA; O'Keefe, Grant E GE; Gibran, Nicole S NS

Publication Date: 2017-01

Variant appearance in text: MC1R: T314T; rs2228478

PubMed Link: 27488084

Variant Present in the following documents:

• Main text

View BVdb publication page

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The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Oncotarget

Lim, Chul-Hyun CH; Cho, Yu Kyung YK; Kim, Sang Woo SW; Choi, Myung-Gyu MG; Rhee, Je-Keun JK; Chung, Yeun-Jun YJ; Lee, Sug-Hyung SH; Kim, Tae-Min TM

Publication Date: 2016-06-28

Variant appearance in text: MC1R: T314T

PubMed Link: 27175599

Variant Present in the following documents:

• oncotarget-07-39758-s006.xlsx, sheet 1

View BVdb publication page

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The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder.

Neurobiology Of Aging

Gan-Or, Ziv Z; Mohsin, Noreen N; Girard, Simon L SL; Montplaisir, Jacques Y JY; Ambalavanan, Amirthagowri A; Strong, Stephanie S; Mallett, Victoria V; Laurent, Sandra B SB; Bourassa, Cynthia V CV; Boivin, Michel M; Langlois, Melanie M; Arnulf, Isabelle I; Högl, Birgit B; Frauscher, Birgit B; Monaca, Christelle C; Desautels, Alex A; Gagnon, Jean-François JF; Postuma, Ronald B RB; Dion, Patrick A PA; Dauvilliers, Yves Y; Dupre, Nicolas N; Alcalay, Roy N RN; Rouleau, Guy A GA

Publication Date: 2016-07

Variant appearance in text: N/A

PubMed Link: 27131830

Variant Present in the following documents:

View BVdb publication page

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Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

Plos One

Yang, Liping L; Cui, Hui H; Yin, Xiaobei X; Dou, Hongliang H; Zhao, Lin L; Chen, Ningning N; Zhang, Jinlu J; Zhang, Huirong H; Li, Genlin G; Ma, Zhizhong Z

Publication Date: 2015

Variant appearance in text: MC1R: 942A>G; T314T; rs2228478

PubMed Link: 26496393

Variant Present in the following documents:

• pone.0140684.s004.xlsx, sheet 2
• pone.0140684.s004.xlsx, sheet 4
• pone.0140684.s004.xlsx, sheet 1
• pone.0140684.s004.xlsx, sheet 5

View BVdb publication page

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MC1R diversity in Northern Island Melanesia has not been constrained by strong purifying selection and cannot explain pigmentation phenotype variation in the region.

Bmc Genetics

Norton, Heather L HL; Werren, Elizabeth E; Friedlaender, Jonathan J

Publication Date: 2015-10-19

Variant appearance in text: MC1R: T314T; rs2228478

PubMed Link: 26482799

Variant Present in the following documents:

• Main text

View BVdb publication page

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Race and Melanocortin 1 Receptor Polymorphism R163Q Are Associated with Post-Burn Hypertrophic Scarring: A Prospective Cohort Study.

The Journal Of Investigative Dermatology

Sood, Ravi F RF; Hocking, Anne M AM; Muffley, Lara A LA; Ga, Maricar M; Honari, Shari S; Reiner, Alexander P AP; Rowhani-Rahbar, Ali A; Gibran, Nicole S NS

Publication Date: 2015-10

Variant appearance in text: MC1R: T314T; rs2228478

PubMed Link: 26030184

Variant Present in the following documents:

• Main text
• nihms693679.pdf
• NIHMS693679-supplement-supplement_1.pdf

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: MC1R: T314T; rs2228478

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.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: T314T; rs2228478

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: 942A>G; T314T; rs2228478

PubMed Link: 24982914

Variant Present in the following documents:

• Main text
• 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: T314T

PubMed Link: 24588892

Variant Present in the following documents:

• Main text

View BVdb publication page

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A novel splicing mutation of KIT results in piebaldism and auburn hair color in a Chinese family.

Biomed Research International

Yang, Yong-jia YJ; Zhao, Rui R; He, Xin-yu XY; Li, Li-ping LP; Wang, Ke-wei KW; Zhao, Liu L; Tu, Ming M; Tang, Jin-song JS; Xie, Zhi-guo ZG; Zhu, Yi-min YM

Publication Date: 2013

Variant appearance in text: MC1R: 942A>G; T314T

PubMed Link: 24000325

Variant Present in the following documents:

• Main text

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: N/A

PubMed Link: 23647022

Variant Present in the following documents:

View BVdb publication page

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Determination of population origin: a comparison of autosomal SNPs, Y-chromosomal and mtDNA haplogroups using a Malagasy population as example.

European Journal Of Human Genetics : Ejhg

Poetsch, Micaela M; Wiegand, Aline A; Harder, Melanie M; Blöhm, Rowena R; Rakotomavo, Noel N; Freitag-Wolf, Sandra S; von Wurmb-Schwark, Nicole N

Publication Date: 2013-12

Variant appearance in text: rs2228478

PubMed Link: 23612573

Variant Present in the following documents:

• Main text

View BVdb publication page

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Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants.

Journal Of Medical Genetics

Puntervoll, Hanne Eknes HE; Yang, Xiaohong R XR; Vetti, Hildegunn Høberg HH; Bachmann, Ingeborg M IM; Avril, Marie Françoise MF; Benfodda, Meriem M; Catricalà, Caterina C; Dalle, Stéphane S; Duval-Modeste, Anne B AB; Ghiorzo, Paola P; Grammatico, Paola P; Harland, Mark M; Hayward, Nicholas K NK; Hu, Hui-Han HH; Jouary, Thomas T; Martin-Denavit, Tanguy T; Ozola, Aija A; Palmer, Jane M JM; Pastorino, Lorenza L; Pjanova, Dace D; Soufir, Nadem N; Steine, Solrun J SJ; Stratigos, Alexander J AJ; Thomas, Luc L; Tinat, Julie J; Tsao, Hensin H; Veinalde, Ruta R; Tucker, Margaret A MA; Bressac-de Paillerets, Brigitte B; Newton-Bishop, Julia A JA; Goldstein, Alisa M AM; Akslen, Lars A LA; Molven, Anders A

Publication Date: 2013-04

Variant appearance in text: N/A

PubMed Link: 23384855

Variant Present in the following documents:

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: 942A>G; T314T; rs2228478

PubMed Link: 23360207

Variant Present in the following documents:

• Main text

View BVdb publication page

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Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree.

Journal Of Dermatological Science

Hawkes, Jason E JE; Cassidy, Pamela B PB; Manga, Prashiela P; Boissy, Raymond E RE; Goldgar, David D; Cannon-Albright, Lisa L; Florell, Scott R SR; Leachman, Sancy A SA

Publication Date: 2013-01

Variant appearance in text: N/A

PubMed Link: 23103111

Variant Present in the following documents:

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Germline melanocortin-1-receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: a role for MC1R in human fetal development.

The Journal Of Investigative Dermatology

Kinsler, Veronica A VA; Abu-Amero, Sayeda S; Budd, Peter P; Jackson, Ian J IJ; Ring, Susan M SM; Northstone, Kate K; Atherton, David J DJ; Bulstrode, Neil W NW; Stanier, Philip P; Hennekam, Raoul C RC; Sebire, Neil J NJ; Moore, Gudrun E GE; Healy, Eugene E

Publication Date: 2012-08

Variant appearance in text: MC1R: T314T

PubMed Link: 22572819

Variant Present in the following documents:

• Main text

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Host phenotype characteristics and MC1R in relation to early-onset basal cell carcinoma.

The Journal Of Investigative Dermatology

Ferrucci, Leah M LM; Cartmel, Brenda B; Molinaro, Annette M AM; Gordon, Patricia B PB; Leffell, David J DJ; Bale, Allen E AE; Mayne, Susan T ST

Publication Date: 2012-04

Variant appearance in text: MC1R: T314T

PubMed Link: 22158557

Variant Present in the following documents:

• NIHMS335184-supplement-supplement_1.pdf

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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: N/A

PubMed Link: 22095472

Variant Present in the following documents:

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Comparing genetic ancestry and self-reported race/ethnicity in a multiethnic population in New York City.

Journal Of Genetics

Lee, Yin Leng YL; Teitelbaum, Susan S; Wolff, Mary S MS; Wetmur, James G JG; Chen, Jia J

Publication Date: 2010-12

Variant appearance in text: rs2228478

PubMed Link: 21273692

Variant Present in the following documents:

• Main text

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Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study.

Journal Of The National Cancer Institute

Demenais, F F; Mohamdi, H H; Chaudru, V V; Goldstein, A M AM; Newton Bishop, J A JA; Bishop, D T DT; Kanetsky, P A PA; Hayward, N K NK; Gillanders, E E; Elder, D E DE; Avril, M F MF; Azizi, E E; van Belle, P P; Bergman, W W; Bianchi-Scarrà, G G; Bressac-de Paillerets, B B; Calista, D D; Carrera, C C; Hansson, J J; Harland, M M; Hogg, D D; Höiom, V V; Holland, E A EA; Ingvar, C C; Landi, M T MT; Lang, J M JM; Mackie, R M RM; Mann, G J GJ; Ming, M E ME; Njauw, C J CJ; Olsson, H H; Palmer, J J; Pastorino, L L; Puig, S S; Randerson-Moor, J J; Stark, M M; Tsao, H H; Tucker, M A MA; van der Velden, P P; Yang, X R XR; Gruis, N N; ,

Publication Date: 2010-10-20

Variant appearance in text: MC1R: T314T

PubMed Link: 20876876

Variant Present in the following documents:

• Main text
• supp_djq363_JNCI-09-1449R-Suppl_tables.pdf
• djq363.pdf

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Does MC1R genotype convey information about melanoma risk beyond risk phenotypes?

Cancer

Kanetsky, Peter A PA; Panossian, Saarene S; Elder, David E DE; Guerry, DuPont D; Ming, Michael E ME; Schuchter, Lynn L; Rebbeck, Timothy R TR

Publication Date: 2010-05-15

Variant appearance in text: N/A

PubMed Link: 20301115

Variant Present in the following documents:

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Genetic determinants of hair and eye colours in the Scottish and Danish populations.

Bmc Genetics

Mengel-From, Jonas J; Wong, Terence H TH; Morling, Niels N; Rees, Jonathan L JL; Jackson, Ian J IJ

Publication Date: 2009-12-30

Variant appearance in text: MC1R: T314T; rs2228478

PubMed Link: 20042077

Variant Present in the following documents:

• Main text

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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: 942A>G; T314T

PubMed Link: 18803811

Variant Present in the following documents:

• Main text

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Dermoscopic features of melanomas associated with MC1R variants in Spanish CDKN2A mutation carriers.

The British Journal Of Dermatology

Cuéllar, F F; Puig, S S; Kolm, I I; Puig-Butille, J J; Zaballos, P P; Martí-Laborda, R R; Badenas, C C; Malvehy, J J

Publication Date: 2009-01

Variant appearance in text: MC1R: T314T

PubMed Link: 18795926

Variant Present in the following documents:

• Main text

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Exploration of the utility of ancestry informative markers for genetic association studies of African Americans with type 2 diabetes and end stage renal disease.

Human Genetics

Keene, Keith L KL; Mychaleckyj, Josyf C JC; Leak, Tennille S TS; Smith, Shelly G SG; Perlegas, Peter S PS; Divers, Jasmin J; Langefeld, Carl D CD; Freedman, Barry I BI; Bowden, Donald W DW; Sale, Michèle M MM

Publication Date: 2008-09

Variant appearance in text: rs2228478

PubMed Link: 18654799

Variant Present in the following documents:

• Main text

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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: 942A>G; T314T

PubMed Link: 18402696

Variant Present in the following documents:

• 1471-2156-9-31.pdf

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