Publications:

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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: rs752927306

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: rs752927306

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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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: R142S

PubMed Link: 29228734

Variant Present in the following documents:

• oncotarget-08-98876-s001.pdf

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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: 424C>A; R142S

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: R142S

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: 424C>A; Arg142Ser

PubMed Link: 23360207

Variant Present in the following documents:

• Main text

View BVdb publication page

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