Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.I155T
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MC1R

NM_002386.4:p.I155T

Associated Papers

Dissecting the Impact of α-MSH-MC1R-cAMP Signaling on UVA-Induced Stress in Fibroblasts - Implications for Regulation of Cutaneous Photoaging.

Böhm M et al.

Aging and Disease, 2026

Rare Germline Variants in CDKN2A-Negative Children and Adolescents With Cutaneous Melanoma.

Johansson PA et al.

Pigment Cell & Melanoma Research, 2026

41673532 (PubMed )
Supplement: PCMR-39-0-s001.xlsx › TableS2

Germline MC1R Variant Status and Efficacy of Immune Checkpoint Inhibitors in Patients With Advanced Melanoma.

Yang M et al.

Pigment Cell & Melanoma Research, 2025

40926353 (PubMed )
Supplement: PCMR-38-0-s001.docx

Assessing MC1R Variants in Lentigo Maligna Melanoma within the Utah Population.

Jiang A et al.

Cancer Research Communications, 2025

Investigation of the MC1R Gene Sequence Variation Using Oxford Nanopore Sequencing.

Branicki W et al.

Electrophoresis, 2025

An overview of benefits and risks of chronic melanocortin-1 receptor activation.

Böhm M et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2025

Melanoma-associated melanocortin 1 receptor variants confer redox signaling-dependent protection against oxidative DNA damage.

Castejón-Griñán M et al.

Redox Biology, 2024

Familial Melanoma Phenotype With Xeroderma Pigmentosum Group C (XP-C) Genotype - The Putative Role of MC1R Polymorphism as Modifier.

Leidenz FAB et al.

Dermatology Practical & Conceptual, 2024

Unveiling the genetic landscape of hereditary melanoma: From susceptibility to surveillance.

Zheng C et al.

Cancer Treatment and Research Communications, 2024

High- and intermediate-risk susceptibility variants in melanoma families from the Mediterranean area: A multicentre cohort from the MelaNostrum Consortium.

Pellegrini C et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023

Characterization of Potential Melanoma Predisposition Genes in High-Risk Brazilian Patients.

Soares de Sá BC et al.

International Journal of Molecular Sciences, 2023

UV-radiation and MC1R germline mutations are risk factors for the development of conventional and spitzoid melanomas in children and adolescents.

Liebmann A et al.

Ebiomedicine, 2023

MC1R signaling through the cAMP-CREB/ATF-1 and ERK-NFκB pathways accelerates G1/S transition promoting breast cancer progression.

Chelakkot VS et al.

Npj Precision Oncology, 2023

37679505 (PubMed )
Supplement: 41698_2023_437_MOESM2_ESM.pdf

The MC1R r allele does not increase melanoma risk in MITF E318K carriers.

Wallingford CK et al.

The British Journal of Dermatology, 2023

Melanocortin 1 receptor variants and their association with phenotypic characteristics and sporadic multiple primary melanomas in a cohort of 402 Spanish subjects.

Vírseda-González D et al.

Experimental Dermatology, 2023

Additional predictions for forensic DNA phenotyping of externally visible characteristics using the ForenSeq and Imagen kits.

Elkins KM et al.

Journal of Forensic Sciences, 2023

Destabilization of mutated human PUS3 protein causes intellectual disability.

Lin TY et al.

Human Mutation, 2022

36125428 (PubMed )
Supplement: HUMU-43-2063-s002.xlsx › Pat._3_

Aberrant expression of agouti signaling protein (ASIP) as a cause of monogenic severe childhood obesity.

Kempf E et al.

Nature Metabolism, 2022

36536132 (PubMed )
Supplement: 42255_2022_703_MOESM1_ESM.pdf

Melanoma in children and adolescents: analysis of susceptibility genes in 123 Italian patients.

Pellegrini C et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2022

Genetic diversity of the melanocortin-1 receptor in an admixed population of Rio de Janeiro: Structural and functional impacts of Cys35Tyr variant.

Neitzke-Montinelli V et al.

Plos One, 2022

Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.

Moore BS et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

Genetic Variants and Somatic Alterations Associated with MITF-E318K Germline Mutation in Melanoma Patients.

Vergani E et al.

Genes, 2021

Familial Melanoma and Susceptibility Genes: A Review of the Most Common Clinical and Dermoscopic Phenotypic Aspect, Associated Malignancies and Practical Tips for Management.

Zocchi L et al.

Journal of Clinical Medicine, 2021

The α-melanocyte-stimulating hormone/melanocortin-1 receptor interaction: A driver of pleiotropic effects beyond pigmentation.

Herraiz C et al.

Pigment Cell & Melanoma Research, 2021

A Randomized Trial of Precision Prevention Materials to Improve Primary and Secondary Melanoma Prevention Activities among Individuals with Limited Melanoma Risk Phenotypes.

Lacson JCA et al.

Cancers, 2021

34201795 (PubMed )
Supplement: cancers-13-03143-s001.zip › cancers-1160613-supplementary.xlsx › Supplemental_Table_1

Influence of germline genetic variants on dermoscopic features of melanoma.

Pozzobon FC et al.

Pigment Cell & Melanoma Research, 2021

Skin pigmentation and its control: From ultraviolet radiation to stem cells.

Yardman-Frank JM et al.

Experimental Dermatology, 2021

The role of MC1R gene variants and phenotypical features in predicting high nevus count.

van der Poel LAJ et al.

Melanoma Research, 2020

MC1R variants and cutaneous melanoma risk according to histological type, body site, and Breslow thickness: a pooled analysis from the M-SKIP project.

Caini S et al.

Melanoma Research, 2020

Melanocortin-1 receptor (MC1R) genotypes do not correlate with size in two cohorts of medium-to-giant congenital melanocytic nevi.

Calbet-Llopart N et al.

Pigment Cell & Melanoma Research, 2020

Melanoma Risk and Melanocyte Biology.

Bertrand JU et al.

Acta Dermato-venereologica, 2020

MC1R variants and associations with pigmentation characteristics and genetic ancestry in a Hispanic, predominately Puerto Rican, population.

Smit AK et al.

Scientific Reports, 2020

Inherited MC1R variants in patients with melanoma are associated with better survival in women.

Lira FE et al.

The British Journal of Dermatology, 2020

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var

High naevus count and MC1R red hair alleles contribute synergistically to increased melanoma risk.

Duffy DL et al.

The British Journal of Dermatology, 2019

MC1R Variation in a New Mexico Population.

White KAM et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2019

The complementary effect of rs1042522 in TP53 and rs1805007 in MC1R is associated with an elevated risk of cutaneous melanoma in Latvian population.

Ozola A et al.

Oncology Letters, 2019

The Melanocortin 1 receptor and its influence on naevi and melanoma in dark-skinned phenotypes.

Smith DJM

The Australasian Journal of Dermatology, 2019

A study in scarlet: MC1R as the main predictor of red hair and exemplar of the flip-flop effect.

Zorina-Lichtenwalter K et al.

Human Molecular Genetics, 2019

Phenotypic and genotypic analysis of amelanotic and hypomelanotic melanoma patients.

Rayner JE et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2019

Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.

Potjer TP et al.

International Journal of Cancer, 2019

MC1R variants in childhood and adolescent melanoma: a retrospective pooled analysis of a multicentre cohort.

Pellegrini C et al.

The Lancet. Child & Adolescent Health, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."