Publications:

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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: A64T

PubMed Link: 34573422

Variant Present in the following documents:

• Main text
• genes-12-01440.pdf

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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: rs368501338

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: rs368501338

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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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: Ala64Thr

PubMed Link: 33976821

Variant Present in the following documents:

• Main text

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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: A64T; rs368501338

PubMed Link: 32350296

Variant Present in the following documents:

• Main text
• 41598_2020_Article_64019.pdf

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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: A64T

PubMed Link: 29228734

Variant Present in the following documents:

• oncotarget-08-98876-s001.pdf

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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: A64T; rs368501338

PubMed Link: 25794181

Variant Present in the following documents:

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: 190G>A; A64T

PubMed Link: 23647022

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: A64T

PubMed Link: 22095472

Variant Present in the following documents:

• Main text

View BVdb publication page

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Relationship between germline MC1R variants and BRAF-mutant melanoma in a North Carolina population-based study.

The Journal Of Investigative Dermatology

Thomas, Nancy E NE; Kanetsky, Peter A PA; Edmiston, Sharon N SN; Alexander, Audrey A; Begg, Colin B CB; Groben, Pamela A PA; Hao, Honglin H; Busam, Klaus K; Ollila, David W DW; Berwick, Marianne M; Conway, Kathleen K

Publication Date: 2010-05

Variant appearance in text: MC1R: A64T

PubMed Link: 20043015

Variant Present in the following documents:

• Main text

View BVdb publication page

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