Publications:

---

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: rs200050206

PubMed Link: 34326492

Variant Present in the following documents:

• NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1

View BVdb publication page

---

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: rs200050206

PubMed Link: 34326492

Variant Present in the following documents:

• NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1

View BVdb publication page

---

Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study.

Npj Breast Cancer

Li, Na N; Lim, Belle W X BWX; Thompson, Ella R ER; McInerny, Simone S; Zethoven, Magnus M; Cheasley, Dane D; Rowley, Simone M SM; Wong-Brown, Michelle W MW; Devereux, Lisa L; Gorringe, Kylie L KL; Sloan, Erica K EK; Trainer, Alison A; Scott, Rodney J RJ; James, Paul A PA; Campbell, Ian G IG

Publication Date: 2021-06-11

Variant appearance in text: MC1R: 112G>A

PubMed Link: 34117267

Variant Present in the following documents:

• 41523_2021_279_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

---

A genome-wide scan study identifies a single nucleotide substitution in MC1R gene associated with white coat colour in fallow deer (Dama dama).

Bmc Genetics

Reiner, Gerald G; Weber, Tim T; Nietfeld, Florian F; Fischer, Dominik D; Wurmser, Christine C; Fries, Ruedi R; Willems, Hermann H

Publication Date: 2020-11-19

Variant appearance in text: MC1R: V38M

PubMed Link: 33213385

Variant Present in the following documents:

• Main text
• 12863_2020_Article_950.pdf

View BVdb publication page

---

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: rs200050206

PubMed Link: 30657907

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genetic Variation in Coat Colour Genes MC1R and ASIP Provides Insights Into Domestication and Management of South American Camelids.

Frontiers In Genetics

Marín, Juan C JC; Rivera, Romina R; Varas, Valeria V; Cortés, Jorge J; Agapito, Ana A; Chero, Ana A; Chávez, Alexandra A; Johnson, Warren E WE; Orozco-terWengel, Pablo P

Publication Date: 2018

Variant appearance in text: MC1R: V38M

PubMed Link: 30483307

Variant Present in the following documents:

• Main text
• fgene-09-00487.pdf

View BVdb publication page

---

Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease.

Neurobiology Of Aging

Lubbe, S J SJ; Escott-Price, V V; Brice, A A; Gasser, T T; Pittman, A M AM; Bras, J J; Hardy, J J; Heutink, P P; Wood, N M NM; Singleton, A B AB; Grosset, D G DG; Carroll, C B CB; Law, M H MH; Demenais, F F; Iles, M M MM; , ; Bishop, D T DT; Newton-Bishop, J J; Williams, N M NM; Morris, H R HR; ,

Publication Date: 2016-12

Variant appearance in text: MC1R: V38M

PubMed Link: 27640074

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

---

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: MC1R: V38M

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

---

Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.

Plos One

Wadt, Karin A W KA; Aoude, Lauren G LG; Krogh, Lotte L; Sunde, Lone L; Bojesen, Anders A; Grønskov, Karen K; Wartacz, Nine N; Ek, Jakob J; Tolstrup-Andersen, Morten M; Klarskov-Andersen, Mette M; Borg, Åke Å; Heegaard, Steffen S; Kiilgaard, Jens F JF; Hansen, Thomas V O TV; Klein, Kerenaftali K; Jönsson, Göran G; Drzewiecki, Krzysztof T KT; Dunø, Morten M; Hayward, Nicholas K NK; Gerdes, Anne-Marie AM

Publication Date: 2015

Variant appearance in text: MC1R: V38M

PubMed Link: 25803691

Variant Present in the following documents:

• Main text
• pone.0122662.pdf

View BVdb publication page

---

A probabilistic model to predict clinical phenotypic traits from genome sequencing.

Plos Computational Biology

Chen, Yun-Ching YC; Douville, Christopher C; Wang, Cheng C; Niknafs, Noushin N; Yeo, Grace G; Beleva-Guthrie, Violeta V; Carter, Hannah H; Stenson, Peter D PD; Cooper, David N DN; Li, Biao B; Mooney, Sean S; Karchin, Rachel R

Publication Date: 2014-09

Variant appearance in text: MC1R: V38M

PubMed Link: 25188385

Variant Present in the following documents:

• pcbi.1003825.s014.xlsx, sheet 1

View BVdb publication page

---

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: 112G>A; V38M

PubMed Link: 24982914

Variant Present in the following documents:

• Main text
• BMRI2014-925716.pdf
• 925716.f1.pdf

View BVdb publication page

---

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: 112G>A; V38M

PubMed Link: 23647022

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: 112G>A; Val38Met

PubMed Link: 23360207

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: V38M

PubMed Link: 22095472

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: 112G>A; V38M

PubMed Link: 18402696

Variant Present in the following documents:

• Main text
• 1471-2156-9-31.pdf

View BVdb publication page

---