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
Functional characterization of all CDKN2A missense variants and comparison to in silico models of pathogenicity.
Kimura H et al.
Elife, 2025
Stratified Medicine Pediatrics: Cell-Free DNA and Serial Tumor Sequencing Identifies Subtype-Specific Cancer Evolution and Epigenetic States.
George SL et al.
Cancer Discovery, 2025
Primary urethral adenocarcinoma harbors recurrent KRAS and EGFR alterations.
Zhao T et al.
Human Pathology, 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
Poor Prognosis among Radiation-Associated Bladder Cancer Is Defined by Clinicogenomic Features.
Wijetunga NA et al.
Cancer Research Communications, 2024
TP53 missense mutation reveals gain-of-function properties in small-sized KRAS transformed pancreatic ductal adenocarcinoma.
Zhou Y et al.
Journal of Translational Medicine, 2023
NGS-based targeted gene mutational profiles in Korean patients with pancreatic cancer.
Jung K et al.
Scientific Reports, 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
The Role of Inherited Pathogenic CDKN2A Variants in Susceptibility to Pancreatic Cancer.
Kimura H et al.
Pancreas, 2021
Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants.
Murali K et al.
Hereditary Cancer in Clinical Practice, 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
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma.
Jouenne F et al.
Journal of Medical Genetics, 2017
Genetics of familial melanoma: 20 years after CDKN2A.
Aoude LG et al.
Pigment Cell & Melanoma Research, 2015
Mutation in AQP5, encoding aquaporin 5, causes palmoplantar keratoderma Bothnia type.
Cao X et al.
The Journal of Investigative Dermatology, 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
Classifying variants of CDKN2A using computational and laboratory studies.
Miller PJ et al.
Human Mutation, 2011
Melanoma risk for CDKN2A mutation carriers who are relatives of population-based case carriers in Australia and the UK.
Cust AE et al.
Journal of Medical Genetics, 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
Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A.
McKenzie HA et al.
Human Mutation, 2010
Coexisting NRAS and BRAF mutations in primary familial melanomas with specific CDKN2A germline alterations.
Jovanovic B et al.
The Journal of Investigative Dermatology, 2010
Familial cutaneous melanoma.
Hansson J
Advances in Experimental Medicine and Biology, 2010
Functional impairment of p16(INK4A) due to CDKN2A p.Gly23Asp missense mutation.
Scaini MC et al.
Mutation Research, 2009
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
CDKN2A germline mutations in individuals with cutaneous malignant melanoma.
Orlow I et al.
The Journal of Investigative Dermatology, 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