Publications:

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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: Q233Q; rs146544450

PubMed Link: 35845857

Variant Present in the following documents:

• crc-21-0114-s01.xlsx, sheet 1

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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: Gln233Gln; rs146544450

PubMed Link: 35452484

Variant Present in the following documents:

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

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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: Q233Q

PubMed Link: 34573422

Variant Present in the following documents:

• Main text
• genes-12-01440.pdf

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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: 699G>A; Gln233=; rs146544450

PubMed Link: 31612033

Variant Present in the following documents:

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

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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: 699G>A

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

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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: 699G>A; Q233Q; rs146544450

PubMed Link: 24982914

Variant Present in the following documents:

• Main text
• BMRI2014-925716.pdf

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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: Q233Q

PubMed Link: 24588892

Variant Present in the following documents:

• Main text

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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: 699G>A; Q233Q

PubMed Link: 23647022

Variant Present in the following documents:

• Main text

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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: MC1R: Q233Q

PubMed Link: 23384855

Variant Present in the following documents:

• Main text
• jmedgenet-2012-101455.pdf

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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: 699G>A; Gln233Gln

PubMed Link: 23360207

Variant Present in the following documents:

• Main text

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Benefits of oral Polypodium Leucotomos extract in MM high-risk patients.

Journal Of The European Academy Of Dermatology And Venereology : Jeadv

Aguilera, P P; Carrera, C C; Puig-Butille, J A JA; Badenas, C C; Lecha, M M; González, S S; Malvehy, J J; Puig, S S

Publication Date: 2013-09

Variant appearance in text: MC1R: Q233Q

PubMed Link: 22849563

Variant Present in the following documents:

• Main text

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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: Q233Q

PubMed Link: 22095472

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: Q233Q

PubMed Link: 20876876

Variant Present in the following documents:

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

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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: 699G>A; Q233Q

PubMed Link: 18402696

Variant Present in the following documents:

• Main text
• 1471-2156-9-31.pdf

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Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair.

American Journal Of Human Genetics

Bastiaens, M T MT; ter Huurne, J A JA; Kielich, C C; Gruis, N A NA; Westendorp, R G RG; Vermeer, B J BJ; Bavinck, J N JN; ,

Publication Date: 2001-04

Variant appearance in text: MC1R: Gln233Gln

PubMed Link: 11254446

Variant Present in the following documents:

• Main text

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Evidence for variable selective pressures at MC1R.

American Journal Of Human Genetics

Harding, R M RM; Healy, E E; Ray, A J AJ; Ellis, N S NS; Flanagan, N N; Todd, C C; Dixon, C C; Sajantila, A A; Jackson, I J IJ; Birch-Machin, M A MA; Rees, J L JL

Publication Date: 2000-04

Variant appearance in text: MC1R: Gln233Gln

PubMed Link: 10733465

Variant Present in the following documents:

• Main text

View BVdb publication page

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