Associated Papers
Structural analysis of the impact of germline mutations of p16 in melanoma prone families.
Arun D et al.
Molecular Diversity, 2025
Genetic susceptibility in early-onset melanoma: An observational Greek cohort study.
Chatziioannou E et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2025
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 2025
Genetic mechanisms of resistance to targeted KRAS inhibition.
Diaz BJ et al.
Biorxiv : the Preprint Server for Biology, 2025
Computational modeling of human genetic variants in mice.
Dong K et al.
Biorxiv : the Preprint Server for Biology, 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
Targeted sequencing analysis of loci implicated in familial melanoma in a Greek cohort.
Kypreou K et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 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
Integrated analysis of canine soft tissue sarcomas identifies recurrent mutations in TP53, KMT genes and PDGFB fusions.
Das S et al.
Scientific Reports, 2023
RBFOX2 modulates a metastatic signature of alternative splicing in pancreatic cancer.
Jbara A et al.
Nature, 2023
NF1 loss of function as an alternative initiating event in pancreatic ductal adenocarcinoma.
Ramakrishnan G et al.
Cell Reports, 2022
Impact of Transcript (p16/p14ARF) Alteration on Cancer Risk in CDKN2A Germline Pathogenic Variant Carriers.
Sargen MR et al.
Jnci Cancer Spectrum, 2022
Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.
Sánchez-Rivera FJ et al.
Nature Biotechnology, 2022
Functional CDKN2A assay identifies frequent deleterious alleles misclassified as variants of uncertain significance.
Kimura H et al.
Elife, 2022
Sequence and Structure-Based Analyses of Human Ankyrin Repeats.
Chakrabarty B et al.
Molecules (basel, Switzerland), 2022
The LOVD3 platform: efficient genome-wide sharing of genetic variants.
Fokkema IFAC et al.
European Journal of Human Genetics : Ejhg, 2021
CDKN2A germline alterations and the relevance of genotype-phenotype associations in cancer predisposition.
Chan SH et al.
Hereditary Cancer in Clinical Practice, 2021
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Hescheler DA et al.
Frontiers in Endocrinology, 2021
Targeted germline sequencing of patients with three or more primary melanomas reveals high rate of pathogenic variants.
Li C et al.
Melanoma Research, 2020
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
CDKN2A/CDK4 Status in Greek Patients with Familial Melanoma and Association with Clinico-epidemiological Parameters.
Karagianni F et al.
Acta Dermato-venereologica, 2018
Uptake of genetic counseling, genetic testing and surveillance in hereditary malignant melanoma (CDKN2A) in Norway.
Levin T et al.
Familial Cancer, 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
Absence of germline CDKN2A mutation in Sicilian patients with familial malignant melanoma: Could it be a population-specific genetic signature?
Di Lorenzo S et al.
Cancer Biology & Therapy, 2016
Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded Material.
de Leng WW et al.
Plos One, 2016
Constitutive mitochondrial DNA copy number in peripheral blood of melanoma families with and without CDKN2A mutations.
Hyland PL et al.
Journal of Carcinogenesis & Mutagenesis, 2014
Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom.
Harland M et al.
Hereditary Cancer in Clinical Practice, 2014
Familial melanoma-associated mutations in p16 uncouple its tumor-suppressor functions.
Jenkins NC et al.
The Journal of Investigative Dermatology, 2013
Comprehensive mutational analysis of CDKN2A and CDK4 in Greek patients with cutaneous melanoma.
Nikolaou V et al.
The British Journal of Dermatology, 2011
Classifying variants of CDKN2A using computational and laboratory studies.
Miller PJ et al.
Human Mutation, 2011
Comment on "Clinical genetic testing for familial melanoma in Italy: a cooperative study".
Amato A et al.
Journal of the American Academy of Dermatology, 2010
Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study.
Demenais F et al.
Journal of the National Cancer Institute, 2010
Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients.
Kannengiesser C et al.
Human Mutation, 2009
Dermoscopic features of melanomas associated with MC1R variants in Spanish CDKN2A mutation carriers.
Cuéllar F et al.
The British Journal of Dermatology, 2009
Population-based prevalence of CDKN2A and CDK4 mutations in patients with multiple primary melanomas.
Helsing P et al.
Genes, Chromosomes & Cancer, 2008
Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR).
Chan PA et al.
Human Mutation, 2007
CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia.
Ruiz A et al.
Journal of Medical Genetics, 1999