Associated Papers
Nanobodies restore stability to cancer-associated mutants of tumor suppressor protein p16INK4a.
Burbidge O et al.
Structure (london, England : 1993), 2025
Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.
Salani F et al.
Esmo Open, 2025
Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.
Newman H et al.
Hemasphere, 2025
Polygenic Risk Score Analysis of 37 SNPs Associated with Melanoma Risk in Colombian Population.
Tovar-Parra D et al.
International Journal of Molecular Sciences, 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
Genomic profiling of pediatric hematologic malignancies and diagnosis of cancer predisposition syndromes: tumoronly versus paired tumor-normal sequencing.
Newman H et al.
Haematologica, 2024
Vasospasm and subsequent stroke from paraneoplastic syndrome in a pediatric patient with an intracranial mature teratoma: a case report.
Jenson AV et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2024
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.
Pantaleo A et al.
Cancers, 2023
Germline Variants in Childhood Cutaneous Melanoma.
Johansson PA et al.
The Journal of Investigative Dermatology, 2023
Prevalence of Germline Mutations in Cancer Predisposition Genes in Patients with Pancreatic Cancer or Suspected Related Hereditary Syndromes: Historical Prospective Analysis.
Dal Buono A et al.
Cancers, 2023
Compliance with the Current NCCN Guidelines and Its Critical Role in Pancreatic Adenocarcinoma.
Petersen JM et al.
Laboratory Medicine, 2023
Impact of Transcript (p16/p14ARF) Alteration on Cancer Risk in CDKN2A Germline Pathogenic Variant Carriers.
Sargen MR et al.
Jnci Cancer Spectrum, 2022
Functional CDKN2A assay identifies frequent deleterious alleles misclassified as variants of uncertain significance.
Kimura H et al.
Elife, 2022
The LOVD3 platform: efficient genome-wide sharing of genetic variants.
Fokkema IFAC et al.
European Journal of Human Genetics : Ejhg, 2021
Genetic Variants and Somatic Alterations Associated with MITF-E318K Germline Mutation in Melanoma Patients.
Vergani E et al.
Genes, 2021
The Role of Inherited Pathogenic CDKN2A Variants in Susceptibility to Pancreatic Cancer.
Kimura H et al.
Pancreas, 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
Targeted germline sequencing of patients with three or more primary melanomas reveals high rate of pathogenic variants.
Li C et al.
Melanoma Research, 2020
CDKN2A Polymorphism in Melanoma Patients in Colombian Population: A Case-Control Study.
Tovar-Parra JD et al.
Biomed Research International, 2020
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
A novel CDKN2A variant (p16L117P ) in a patient with familial and multiple primary melanomas.
Li C et al.
Pigment Cell & Melanoma Research, 2019
In vitro behavior and UV response of melanocytes derived from carriers of CDKN2A mutations and MC1R variants.
Hernando B et al.
Pigment Cell & Melanoma Research, 2019
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
Germline Variants and Risk for Pancreatic Cancer: A Systematic Review and Emerging Concepts.
Zhan W et al.
Pancreas, 2018
CDKN2A founder mutation in pancreatic ductal adenocarcinoma patients without cutaneous features of Familial Atypical Multiple Mole Melanoma (FAMMM) syndrome.
Cremin C et al.
Hereditary Cancer in Clinical Practice, 2018
Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families.
Taylor NJ et al.
The Journal of Investigative Dermatology, 2017
Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF.
Mangas C et al.
The British Journal of Dermatology, 2016
Association of P16-RBSP3 inactivation with phosphorylated RB1 overexpression in basal-parabasal layers of normal cervix unchanged during CACX development.
Chakraborty C et al.
The Biochemical Journal, 2016