Publications:

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: MC1R: A218T; rs200965363

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Whole-exome sequencing analysis identifies distinct mutational profile and novel prognostic biomarkers in primary gastrointestinal diffuse large B-cell lymphoma.

Experimental Hematology & Oncology

Li, Shan-Shan SS; Zhai, Xiao-Hui XH; Liu, Hai-Ling HL; Liu, Ting-Zhi TZ; Cao, Tai-Yuan TY; Chen, Dong-Mei DM; Xiao, Le-Xin LX; Gan, Xiao-Qin XQ; Cheng, Ke K; Hong, Wan-Jia WJ; Huang, Yan Y; Lian, Yi-Fan YF; Xiao, Jian J

Publication Date: 2022-10-15

Variant appearance in text: MC1R: 652G>A; Ala218Thr; rs200965363

PubMed Link: 36243813

Variant Present in the following documents:

• 40164_2022_325_MOESM2_ESM.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: rs200965363

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: rs200965363

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 in childhood and adolescent melanoma: a retrospective pooled analysis of a multicentre cohort.

The Lancet. Child & Adolescent Health

Pellegrini, Cristina C; Botta, Francesca F; Massi, Daniela D; Martorelli, Claudia C; Facchetti, Fabio F; Gandini, Sara S; Maisonneuve, Patrick P; Avril, Marie-Françoise MF; Demenais, Florence F; Bressac-de Paillerets, Brigitte B; Hoiom, Veronica V; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Marrett, Loraine L; Zanetti, Roberto R; Dwyer, Terence T; Thomas, Nancy E NE; Begg, Colin B CB; Berwick, Marianne M; Puig, Susana S; Potrony, Miriam M; Nagore, Eduardo E; Ghiorzo, Paola P; Menin, Chiara C; Manganoni, Ausilia Maria AM; Rodolfo, Monica M; Brugnara, Sonia S; Passoni, Emanuela E; Sekulovic, Lidija Kandolf LK; Baldini, Federica F; Guida, Gabriella G; Stratigos, Alexandros A; Ozdemir, Fezal F; Ayala, Fabrizio F; Fernandez-de-Misa, Ricardo R; Quaglino, Pietro P; Ribas, Gloria G; Romanini, Antonella A; Migliano, Emilia E; Stanganelli, Ignazio I; Kanetsky, Peter A PA; Pizzichetta, Maria Antonietta MA; García-Borrón, Jose Carlos JC; Nan, Hongmei H; Landi, Maria Teresa MT; Little, Julian J; Newton-Bishop, Julia J; Sera, Francesco F; Fargnoli, Maria Concetta MC; Raimondi, Sara S; , ; , ; ,

Publication Date: 2019-05

Variant appearance in text: MC1R: A218T

PubMed Link: 30872112

Variant Present in the following documents:

• Main text

View BVdb publication page

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Allelic variation of melanocortin-1 receptor locus in Saudi indigenous sheep exhibiting different color coats.

Asian-Australasian Journal Of Animal Sciences

Mahmoud, Ahmed H AH; Mashaly, Ashraf M AM; Rady, Ahmed M AM; Al-Anazi, Khalid M KM; Saleh, Amgad A AA

Publication Date: 2017-02

Variant appearance in text: MC1R: A218T

PubMed Link: 27492350

Variant Present in the following documents:

• Main text
• ajas-30-2-154.pdf

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: MC1R: 652G>A; A218T

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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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: A218T; rs200965363

PubMed Link: 25794181

Variant Present in the following documents:

View BVdb publication page

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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: A218T

PubMed Link: 25188385

Variant Present in the following documents:

• pcbi.1003825.s014.xlsx, sheet 1

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: 652G>A; A218T

PubMed Link: 24982914

Variant Present in the following documents:

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

View BVdb publication page

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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: 652G>A; Ala218Thr

PubMed Link: 23360207

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: A218T

PubMed Link: 22095472

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: A218T

PubMed Link: 20876876

Variant Present in the following documents:

• Main text
• supp_djq363_JNCI-09-1449R-Suppl_tables.pdf
• djq363.pdf

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Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families.

Bmc Medical Genetics

Peric, Barbara B; Cerkovnik, Petra P; Novakovic, Srdjan S; Zgajnar, Janez J; Besic, Nikola N; Hocevar, Marko M

Publication Date: 2008-09-19

Variant appearance in text: MC1R: 652G>A; A218T

PubMed Link: 18803811

Variant Present in the following documents:

• Main text
• 1471-2350-9-86.pdf

View BVdb publication page

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