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
The complexity of tobacco smoke-induced mutagenesis in head and neck cancer.
Torrens L et al.
Nature Genetics, 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 melanoma susceptibility genes in high-risk patients from Central Italy.
Pellegrini C et al.
Melanoma Research, 2017
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
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 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
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