Associated Papers
Paired tumor-normal sequencing provides insights into the CDKN2A-associated tumor spectrum.
Breen KE et al.
Npj Precision Oncology, 2025
Genomic profiling informs therapies and prognosis for patients with hepatocellular carcinoma in clinical practice.
Song M et al.
Bmc Cancer, 2024
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.
Pantaleo A et al.
Cancers, 2023
Phenotypic and Dermoscopic Patterns of Familial Melanocytic Lesions: A Pilot Study in a Third-Level Center.
Roccuzzo G et al.
Cancers, 2023
Clinical Significance of Germline Pathogenic Variants among 51 Cancer Predisposition Genes in an Unselected Cohort of Italian Pancreatic Cancer Patients.
Puccini A et al.
Cancers, 2022
Predictors of germline status for hereditary melanoma: 5 years of multi-gene panel testing within the Italian Melanoma Intergroup.
Bruno W et al.
Esmo Open, 2022
Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.
Sobahy TM et al.
Bmc Medical Genomics, 2022
RNA-SSNV: A Reliable Somatic Single Nucleotide Variant Identification Framework for Bulk RNA-Seq Data.
Long Q et al.
Frontiers in Genetics, 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
The LOVD3 platform: efficient genome-wide sharing of genetic variants.
Fokkema IFAC et al.
European Journal of Human Genetics : Ejhg, 2021
Efficacy of BRAF and MEK Inhibition in Patients with BRAF-Mutant Advanced Melanoma and Germline CDKN2A Pathogenic Variants.
Spagnolo F et al.
Cancers, 2021
CDKN2A germline alterations and the relevance of genotype-phenotype associations in cancer predisposition.
Chan SH et al.
Hereditary Cancer in Clinical Practice, 2021
ctDNA in Neuroendocrine Carcinoma of Gastroenteropancreatic Origin or of Unknown Primary: The CIRCAN-NEC Pilot Study.
Gerard L et al.
Neuroendocrinology, 2021
A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition Genes.
De Simone P et al.
International Journal of Molecular Sciences, 2020
Exome sequencing identifies somatic mutations in novel driver genes in non-small cell lung cancer.
Zhang M et al.
Aging, 2020
Neural crest-derived tumor neuroblastoma and melanoma share 1p13.2 as susceptibility locus that shows a long-range interaction with the SLC16A1 gene.
Avitabile M et al.
Carcinogenesis, 2020
Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline CDKN2A mutations.
Helgadottir H et al.
Journal of Medical Genetics, 2020
Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.
Landi MT et al.
Nature Genetics, 2020
Clinical and analytical validation of FoundationOne Liquid CDx, a novel 324-Gene cfDNA-based comprehensive genomic profiling assay for cancers of solid tumor origin.
Woodhouse R et al.
Plos One, 2020
Identification of predictors of drug sensitivity using patient-derived models of esophageal squamous cell carcinoma.
Su D et al.
Nature Communications, 2019
CDKN2A germline mutations are not associated with poor survival in an Italian cohort of melanoma patients.
Dalmasso B et al.
Journal of the American Academy of Dermatology, 2019
Combining molecular and immunohistochemical analyses of key drivers in primary melanomas: interplay between germline and somatic variations.
Bruno W et al.
Oncotarget, 2018
KRAS, TP53, CDKN2A, SMAD4, BRCA1, and BRCA2 Mutations in Pancreatic Cancer.
Cicenas J et al.
Cancers, 2017
Uptake of genetic counseling, genetic testing and surveillance in hereditary malignant melanoma (CDKN2A) in Norway.
Levin T et al.
Familial Cancer, 2017
Functional analysis of a CDKN2A 5'UTR germline variant associated with pancreatic cancer development.
Bruno W et al.
Plos One, 2017
Comprehensive genomic profiling of 295 cases of clinically advanced urothelial carcinoma of the urinary bladder reveals a high frequency of clinically relevant genomic alterations.
Ross JS et al.
Cancer, 2016
Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup.
Bruno W et al.
Journal of the American Academy of Dermatology, 2016
The Genetic Evolution of Melanoma from Precursor Lesions.
Shain AH et al.
The New England Journal of Medicine, 2015
Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population.
Charoute H et al.
Human Mutation, 2015
Epidemiological features and prognostic parameters of multiple primary melanomas in CDKN2A-mutations patients.
De Giorgi V et al.
Pigment Cell & Melanoma Research, 2015
CDKN2A mutations could influence the dermoscopic pattern of presentation of multiple primary melanoma: a clinical dermoscopic genetic study.
De Giorgi V et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2015
Cross-cancer profiling of molecular alterations within the human autophagy interaction network.
Lebovitz CB et al.
Autophagy, 2015
Genetic predisposition to pancreatic cancer.
Ghiorzo P
World Journal of Gastroenterology, 2014
Molecular targeting of neuroblastoma with a novel p16INK4a transporter system.
Kawaguchi T et al.
International Journal of Oncology, 2014
Comprehensive genomic characterization of squamous cell lung cancers.
Unknown Author
Nature, 2012
MC1R variation and melanoma risk in relation to host/clinical and environmental factors in CDKN2A positive and negative melanoma patients.
Ghiorzo P et al.
Experimental Dermatology, 2012
CDKN2A is the main susceptibility gene in Italian pancreatic cancer families.
Ghiorzo P et al.
Journal of Medical Genetics, 2012
Clinical genetic testing for familial melanoma in Italy: a cooperative study.
Bruno W et al.
Journal of the American Academy of Dermatology, 2009
CDKN2A and MC1R analysis in amelanotic and pigmented melanoma.
Ghiorzo P et al.
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
Uncommon association of germline mutations of RET proto-oncogene and CDKN2A gene.
Foppiani L et al.
European Journal of Endocrinology, 2008
Population-based prevalence of CDKN2A and CDK4 mutations in patients with multiple primary melanomas.
Helsing P et al.
Genes, Chromosomes & Cancer, 2008
The p.G23S CDKN2A founder mutation in high-risk melanoma families from Central Italy.
Gensini F et al.
Melanoma Research, 2007
New founder germline mutations of CDKN2A in melanoma-prone families and multiple primary melanoma development in a patient receiving levodopa treatment.
Kannengiesser C et al.
Genes, Chromosomes & Cancer, 2007
High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL.
Goldstein AM et al.
Cancer Research, 2006
Impact of E27X, a novel CDKN2A germ line mutation, on p16 and p14ARF expression in Italian melanoma families displaying pancreatic cancer and neuroblastoma.
Ghiorzo P et al.
Human Molecular Genetics, 2006