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: I168I; rs34612847

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: Ile168Ile; rs34612847

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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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: rs34612847

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: rs34612847

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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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: I168I; rs34612847

PubMed Link: 32350296

Variant Present in the following documents:

• Main text
• 41598_2020_Article_64019.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: rs34612847

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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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: rs34612847

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: 504C>T; I168I; rs34612847

PubMed Link: 24982914

Variant Present in the following documents:

• Main text
• BMRI2014-925716.pdf

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: 504C>T; I168I

PubMed Link: 23647022

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: 504C>T; I168I

PubMed Link: 18402696

Variant Present in the following documents:

• Main text
• 1471-2156-9-31.pdf

View BVdb publication page

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