Associated Papers
Integrating evidence from protein domains to identify cancer driver mutations.
Ostroverkhova D et al.
Protein Science : a Publication of the Protein Society, 2026
Paired tumor-normal sequencing provides insights into the CDKN2A-associated tumor spectrum.
Breen KE et al.
Npj Precision Oncology, 2025
Nanobodies restore stability to cancer-associated mutants of tumor suppressor protein p16INK4a.
Burbidge O et al.
Structure (london, England : 1993), 2025
A comprehensive benchmark for multiple highly efficient base editors with broad targeting scope.
Wang X 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
Clinicogenomic landscape of pancreatic adenocarcinoma identifies KRAS mutant dosage as prognostic of overall survival.
Varghese AM et al.
Nature Medicine, 2025
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
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
Molecular Analysis of HPV-independent Primary Endometrial Squamous Cell Carcinoma Reveals TP53 and CDKN2A Comutations : A Clinicopathologic Analysis With Re-evaluation of Diagnostic Criteria.
Hopkins MR et al.
The American Journal of Surgical Pathology, 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
Genomic Analysis of Response to Neoadjuvant Chemotherapy in Esophageal Adenocarcinoma.
Izadi F et al.
Cancers, 2021
Dermoscopy comparative approach for early diagnosis in familial melanoma: influence of MC1R genotype.
Longo C et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2021
Circulating Tumor DNA Analyses Predict Disease Recurrence in Non-Muscle-Invasive Bladder Cancer.
Zhang J et al.
Frontiers in Oncology, 2021
CDKN2A-Inactivated Pancreatic Ductal Adenocarcinoma Exhibits Therapeutic Sensitivity to Paclitaxel: A Bioinformatics Study.
Lin JC et al.
Journal of Clinical Medicine, 2020
Combining molecular and immunohistochemical analyses of key drivers in primary melanomas: interplay between germline and somatic variations.
Bruno W et al.
Oncotarget, 2018
Profiling cancer-related gene mutations in oral squamous cell carcinoma from Japanese patients by targeted amplicon sequencing.
Nakagaki T et al.
Oncotarget, 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
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
BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study.
Zhen DB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Cross-cancer profiling of molecular alterations within the human autophagy interaction network.
Lebovitz CB et al.
Autophagy, 2015
Analytical and Clinical Validation of a Digital Sequencing Panel for Quantitative, Highly Accurate Evaluation of Cell-Free Circulating Tumor DNA.
Lanman RB et al.
Plos One, 2015
Molecular dynamics simulations and statistical coupling analysis reveal functional coevolution network of oncogenic mutations in the CDKN2A-CDK6 complex.
Wang J et al.
Febs Letters, 2013
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
In silico analysis of structural and functional consequences in p16INK4A by deleterious nsSNPs associated CDKN2A gene in malignant melanoma.
Rajasekaran R et al.
Biochimie, 2008
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
Familial melanoma, pancreatic cancer and germline CDKN2A mutations.
Goldstein AM
Human Mutation, 2004
Geographical variation in the penetrance of CDKN2A mutations for melanoma.
Bishop DT et al.
Journal of the National Cancer Institute, 2002
Mutation analysis of the CDKN2A promoter in Australian melanoma families.
Pollock PM et al.
Genes, Chromosomes & Cancer, 2001