Associated Papers
Germline CDKN2A Variant Cascade Testing Across Four Generations Reveals Familial Melanoma-Breast Cancer Genotype-Phenotype Correlation.
Berkman J et al.
Pigment Cell & Melanoma Research, 2025
Functional characterization of all CDKN2A missense variants and comparison to in silico models of pathogenicity.
Kimura H et al.
Elife, 2025
Functional characterization of all CDKN2A missense variants and comparison to in silico models of pathogenicity.
Kimura H et al.
Biorxiv : the Preprint Server for Biology, 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
Characterization of Potential Melanoma Predisposition Genes in High-Risk Brazilian Patients.
Soares de Sá BC et al.
International Journal of Molecular Sciences, 2023
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
Sequence and Structure-Based Analyses of Human Ankyrin Repeats.
Chakrabarty B et al.
Molecules (basel, Switzerland), 2022
The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell Carcinoma.
Hubert JN et al.
Cancers, 2021
The Melanocortin 1 receptor and its influence on naevi and melanoma in dark-skinned phenotypes.
Smith DJM
The Australasian Journal of Dermatology, 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
Characteristics of Familial Melanoma in Valencia, Spain, Based on the Presence of CDKN2A Mutations and MC1R Variants.
Huerta C et al.
Acta Dermato-venereologica, 2018
Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.
Puig S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Update in genetic susceptibility in melanoma.
Potrony M et al.
Annals of Translational Medicine, 2015
Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.
Wadt KA et al.
Plos One, 2015
Melanoma risk associated with MC1R gene variants in Latvia and the functional analysis of rare variants.
Ozola A et al.
Cancer Genetics, 2013
Genetic analysis of three important genes in pigmentation and melanoma susceptibility: CDKN2A, MC1R and HERC2/OCA2.
Ibarrola-Villava M et al.
Experimental Dermatology, 2010
Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma.
Duffy DL et al.
The Journal of Investigative Dermatology, 2010
Malignant melanoma--a genetic overview.
Bloethner S et al.
Actas Dermo-sifiliograficas, 2009
Melanocortin receptor 1 variants and melanoma risk: a study of 2 European populations.
Scherer D et al.
International Journal of Cancer, 2009
MC1R variant alleles and malignant melanoma risk in Israel.
Galore-Haskel G et al.
European Journal of Cancer (oxford, England : 1990), 2009
Contribution of genetic factors for melanoma susceptibility in sporadic US melanoma patients.
Council ML et al.
Experimental Dermatology, 2009
The contribution of melanocortin 1 receptor gene polymorphisms and the agouti signalling protein gene 8818A>G polymorphism to cutaneous melanoma and basal cell carcinoma in a Polish population.
Brudnik U et al.
Experimental Dermatology, 2009
Protective effect of copy number polymorphism of glutathione S-transferase T1 gene on melanoma risk in presence of CDKN2A mutations, MC1R variants and host-related phenotypes.
Chaudru V et al.
Familial Cancer, 2009
Genetics of melanoma predisposition.
Lin J et al.
The British Journal of Dermatology, 2008
Main pigmentary features and melanocortin 1 receptor (MC1R) gene polymorphisms in the population of the Canary Islands.
de-Misa RF et al.
International Journal of Dermatology, 2008
MC1R variants, melanoma and red hair color phenotype: a meta-analysis.
Raimondi S et al.
International Journal of Cancer, 2008
MC1R variants associated susceptibility to basal cell carcinoma of skin: interaction with host factors and XRCC3 polymorphism.
Scherer D et al.
International Journal of Cancer, 2008
MC1R: three novel variants identified in a malignant melanoma association study in the Spanish population.
Fernandez L et al.
Carcinogenesis, 2007
Comprehensive evaluation of allele frequency differences of MC1R variants across populations.
Gerstenblith MR et al.
Human Mutation, 2007
Population-based study of natural variation in the melanocortin-1 receptor gene and melanoma.
Kanetsky PA et al.
Cancer Research, 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
Detection of MC1R polymorphisms with protease-mediated allele-specific extension as an alternative to direct sequencing.
Käller M et al.
Clinical Chemistry, 2005
Recurrent patterns of dual RB and p53 pathway inactivation in melanoma.
Yang G et al.
The Journal of Investigative Dermatology, 2005
MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population.
Landi MT et al.
Journal of the National Cancer Institute, 2005
Germline mutation and large deletion analysis of the CDKN2A and ARF genes in families with multiple melanoma or an aggregation of malignant melanoma and breast cancer.
Debniak T et al.
International Journal of Cancer, 2004
Novel MC1R variants in Ligurian melanoma patients and controls.
Pastorino L et al.
Human Mutation, 2004
Interactive effects of MC1R and OCA2 on melanoma risk phenotypes.
Duffy DL et al.
Human Molecular Genetics, 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
Mutational analysis of N-ras, p53, CDKN2A (p16(INK4a)), p14(ARF), CDK4, and MC1R genes in human dysplastic melanocytic naevi.
Papp T et al.
Journal of Medical Genetics, 2003
Skin colour and skin cancer - MC1R, the genetic link.
Sturm RA
Melanoma Research, 2002
The CDKN2A (p16) gene and human cancer.
Foulkes WD et al.
Molecular Medicine (cambridge, Mass.), 1997