Associated Papers
Journey through the spectacular landscape of melanocortin 1 receptor.
Upadhyay PR et al.
Pigment Cell & Melanoma Research, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma.
Jensen MR et al.
Hgg Advances, 2023
Large Cancer Pedigree Involving Multiple Cancer Genes including Likely Digenic MSH2 and MSH6 Lynch Syndrome (LS) and an Instance of Recombinational Rescue from LS.
Vogelaar IP et al.
Cancers, 2022
Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.
Newman S et al.
Cancer Discovery, 2021
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
A 1-bp deletion in Mc1r in a Norway rat (Rattus norvegicus) from Sado Island, Japan gives rise to a yellowish color variant: an insight into mammalian MC1R variants.
Tsunoi T et al.
Genes & Genetic Systems, 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
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.
Byrjalsen A et al.
Plos Genetics, 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
Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India.
Yohe S et al.
Molecular Genetics & Genomic Medicine, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 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
Hierarchical modeling of melanocortin 1 receptor variants with skin cancer risk.
Joshi AD et al.
Genetic Epidemiology, 2018
Contributions by MC1R Variants to Melanoma Risk in Males and Females.
Wendt J et al.
Jama Dermatology, 2018
Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF.
Mangas C et al.
The British Journal of Dermatology, 2016
Human Determinants and the Role of Melanocortin-1 Receptor Variants in Melanoma Risk Independent of UV Radiation Exposure.
Wendt J et al.
Jama Dermatology, 2016
Candidate DNA repair susceptibility genes identified by exome sequencing in high-risk pancreatic cancer.
Smith AL et al.
Cancer Letters, 2016
Dermoscopic features of cutaneous melanoma are associated with clinical characteristics of patients and tumours and with MC1R genotype.
Fargnoli MC et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2014
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
Actinic damage on the back is significantly determined by MC1R variants and previous sun exposure compared with other body sites in a multivariate analysis.
Wendt J et al.
The British Journal of Dermatology, 2014
A large French case-control study emphasizes the role of rare Mc1R variants in melanoma risk.
Hu HH et al.
Biomed Research International, 2014
Variants in melanocortin 1 receptor gene contribute to risk of melanoma--a direct sequencing analysis in a Texas population.
Guan X et al.
Pigment Cell & Melanoma Research, 2013
Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants.
Puntervoll HE et al.
Journal of Medical Genetics, 2013
MC1R genotypes and risk of melanoma before age 40 years: a population-based case-control-family study.
Cust AE et al.
International Journal of Cancer, 2012
Host phenotype characteristics and MC1R in relation to early-onset basal cell carcinoma.
Ferrucci LM et al.
The Journal of Investigative Dermatology, 2012
Does MC1R genotype convey information about melanoma risk beyond risk phenotypes?
Kanetsky PA et al.
Cancer, 2010
Relationship between germline MC1R variants and BRAF-mutant melanoma in a North Carolina population-based study.
Thomas NE et al.
The Journal of Investigative Dermatology, 2010
MC1R variation and melanoma risk in the Swedish population in relation to clinical and pathological parameters.
Höiom V et al.
Pigment Cell & Melanoma Research, 2009
CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma.
Pastorino L et al.
Pigment Cell & Melanoma Research, 2008
The Y152X MC1R gene mutation: occurrence in ethnically diverse Jewish malignant melanoma patients.
Galore G et al.
Melanoma Research, 2007
Melanocortin 1 receptor variants and skin cancer risk.
Han J et al.
International Journal of Cancer, 2006
Population-based study of natural variation in the melanocortin-1 receptor gene and melanoma.
Kanetsky PA et al.
Cancer Research, 2006
Melanocortin receptor-1 gene polymorphisms and the risk of cutaneous melanoma in a low-risk southern European population.
Stratigos AJ et al.
The Journal of Investigative Dermatology, 2006
[Genetic predisposition in cutaneous melanoma].
Avilés JA et al.
Actas Dermo-sifiliograficas, 2006
Contribution of melanocortin-1 receptor gene variants to sporadic cutaneous melanoma risk in a population in central Italy: a case-control study.
Fargnoli MC et al.
Melanoma Research, 2006
Gene polymorphisms and their effects in the melanocortin system.
Carroll L et al.
Peptides, 2005
Association of MC1R variants and risk of melanoma in melanoma-prone families with CDKN2A mutations.
Goldstein AM et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2005
Assessment of multiple displacement amplification for polymorphism discovery and haplotype determination at a highly polymorphic locus, MC1R.
Murthy KK et al.
Human Mutation, 2005
MC1R and the response of melanocytes to ultraviolet radiation.
Rouzaud F et al.
Mutation Research, 2005
Novel MC1R variants in Ligurian melanoma patients and controls.
Pastorino L et al.
Human Mutation, 2004
CDKN2A and MC1R mutations in patients with sporadic multiple primary melanoma.
Peris K et al.
The Journal of Investigative Dermatology, 2004
Assessment of polymorphic variants in the melanocortin-1 receptor gene with cutaneous pigmentation using an evolutionary approach.
Kanetsky PA et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2004
Melanocortin 1 receptor (MC1R) gene variants may increase the risk of melanoma in France independently of clinical risk factors and UV exposure.
Matichard E et al.
Journal of Medical Genetics, 2004
Skin colour and skin cancer - MC1R, the genetic link.
Sturm RA
Melanoma Research, 2002