Associated Papers
Structural analysis of the impact of germline mutations of p16 in melanoma prone families.
Arun D et al.
Molecular Diversity, 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
Mining cancer genomes for change-of-metabolic-function mutations.
Tu KJ et al.
Communications Biology, 2023
Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.
Sakthikumar S et al.
Veterinary and Comparative Oncology, 2023
Clinicopathologic Characteristics and Outcomes for Patients With KRAS G12D-Mutant NSCLC.
Cooper AJ et al.
Jto Clinical and Research Reports, 2022
Sequence and Structure-Based Analyses of Human Ankyrin Repeats.
Chakrabarty B et al.
Molecules (basel, Switzerland), 2022
Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.
Asselta R et al.
Thoracic Cancer, 2021
Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants.
Overbeek KA et al.
Journal of Medical Genetics, 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
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
Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.
Winter H et al.
Cancers, 2019
Incidence and distribution of UroSEEK gene panel in a multi-institutional cohort of bladder urothelial carcinoma.
Eich ML et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019
Germline gene polymorphisms predisposing domestic mammals to carcinogenesis.
Flisikowski K et al.
Veterinary and Comparative Oncology, 2017
Characterization of melanoma susceptibility genes in high-risk patients from Central Italy.
Pellegrini C et al.
Melanoma Research, 2017
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
CDKN2A unclassified variants in familial malignant melanoma: combining functional and computational approaches for their assessment.
Scaini MC et al.
Human Mutation, 2014
Familial melanoma-associated mutations in p16 uncouple its tumor-suppressor functions.
Jenkins NC et al.
The Journal of Investigative Dermatology, 2013
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
Familial melanoma: clinical factors associated with germline CDKN2A mutations according to the number of patients affected by melanoma in a family.
Maubec E et al.
Journal of the American Academy of Dermatology, 2012
EDNRB gene variants and melanoma risk in two southern European populations.
Spica T et al.
Clinical and Experimental Dermatology, 2011
Classifying variants of CDKN2A using computational and laboratory studies.
Miller PJ et al.
Human Mutation, 2011
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
Mutational analysis of CDKN2A gene in a group of 390 larynx cancer patients.
Kiwerska K et al.
Molecular Biology Reports, 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
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
Frequent alterations of p16INK4a and p14ARF in oral proliferative verrucous leukoplakia.
Kresty LA et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 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
Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents.
Goldstein AM et al.
Journal of Medical Genetics, 2007
High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL.
Goldstein AM et al.
Cancer Research, 2006
Recurrent patterns of dual RB and p53 pathway inactivation in melanoma.
Yang G et al.
The Journal of Investigative Dermatology, 2005
Detailed computational study of p53 and p16: using evolutionary sequence analysis and disease-associated mutations to predict the functional consequences of allelic variants.
Greenblatt MS et al.
Oncogene, 2003
Sporadic multiple primary melanoma cases: CDKN2A germline mutations with a founder effect.
Auroy S et al.
Genes, Chromosomes & Cancer, 2001
Point mutations can inactivate in vitro and in vivo activities of p16(INK4a)/CDKN2A in human glioma.
Arap W et al.
Oncogene, 1997
The CDKN2A (p16) gene and human cancer.
Foulkes WD et al.
Molecular Medicine (cambridge, Mass.), 1997