Associated Papers
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
Cancer Susceptibility Gene Testing in Patients With Pancreatic Ductal Adenocarcinoma: Implementation in a Cancer Center Oncology Clinic.
Sinan H et al.
Jco Precision Oncology, 2025
The immune response-related genomic alterations in patients with malignant melanoma.
Li L et al.
Medicine, 2024
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.
Pantaleo A et al.
Cancers, 2023
Impact of Transcript (p16/p14ARF) Alteration on Cancer Risk in CDKN2A Germline Pathogenic Variant Carriers.
Sargen MR et al.
Jnci Cancer Spectrum, 2022
Implication and Influence of Multigene Panel Testing with Genetic Counseling in Korean Patients with BRCA1/2 Mutation-Negative Breast Cancer.
Park JS et al.
Cancer Research and Treatment, 2022
Hereditary oral squamous cell carcinoma associated with CDKN2A germline mutation: a case report.
Jeong AR et al.
Journal of Otolaryngology - Head & Neck Surgery = Le Journal D'oto-rhino-laryngologie Et De Chirurgie Cervico-faciale, 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
CDKN2A genetic testing in melanoma-prone families in Sweden in the years 2015-2020: implications for novel national recommendations.
Pissa M et al.
Acta Oncologica (stockholm, Sweden), 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
CDKN2A-Inactivated Pancreatic Ductal Adenocarcinoma Exhibits Therapeutic Sensitivity to Paclitaxel: A Bioinformatics Study.
Lin JC et al.
Journal of Clinical Medicine, 2020
Functional significance of U2AF1 S34F mutations in lung adenocarcinomas.
Esfahani MS et al.
Nature Communications, 2019
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.
Koyama T et al.
Bmc Cancer, 2019
Detection of Exosomal miRNAs in the Plasma of Melanoma Patients.
Pfeffer SR et al.
Journal of Clinical Medicine, 2015
TransVar: a multilevel variant annotator for precision genomics.
Zhou W et al.
Nature Methods, 2015
Cross-cancer profiling of molecular alterations within the human autophagy interaction network.
Lebovitz CB et al.
Autophagy, 2015
Constitutive mitochondrial DNA copy number in peripheral blood of melanoma families with and without CDKN2A mutations.
Hyland PL et al.
Journal of Carcinogenesis & Mutagenesis, 2014
A code for RanGDP binding in ankyrin repeats defines a nuclear import pathway.
Lu M et al.
Cell, 2014
Heritable one-hit events defining cancer prevention?
Kopelovich L et al.
Cell Cycle (georgetown, Tex.), 2013
Novel germline CDKN2A mutation associated with head and neck squamous cell carcinomas and melanomas.
Cabanillas R et al.
Head & Neck, 2013
Altered transcriptome signature of phenotypically normal skin fibroblasts heterozygous for CDKN2A in familial melanoma: relevance to early intervention.
Fan M et al.
Oncotarget, 2013
Lack of germline PALB2 mutations in melanoma-prone families with CDKN2A mutations and pancreatic cancer.
Yang XR et al.
Familial Cancer, 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
Head and neck squamous cell carcinoma in FAMMM syndrome.
Vinarsky V et al.
Head & Neck, 2009
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
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
Recurrent patterns of dual RB and p53 pathway inactivation in melanoma.
Yang G et al.
The Journal of Investigative Dermatology, 2005
Familial melanoma, pancreatic cancer and germline CDKN2A mutations.
Goldstein AM
Human Mutation, 2004
The ankyrin repeat as molecular architecture for protein recognition.
Mosavi LK et al.
Protein Science : a Publication of the Protein Society, 2004
Prospective risk of cancer in CDKN2A germline mutation carriers.
Goldstein AM et al.
Journal of Medical Genetics, 2004
The ARF-p16 gene locus in carcinogenesis and therapy of head and neck squamous cell carcinoma.
Yarbrough WG
The Laryngoscope, 2002
Familial head and neck cancer: molecular analysis of a new clinical entity.
Yu KK et al.
The Laryngoscope, 2002
Geographical variation in the penetrance of CDKN2A mutations for melanoma.
Bishop DT et al.
Journal of the National Cancer Institute, 2002
Mutations in the INK4a/ARF melanoma susceptibility locus functionally impair p14ARF.
Rizos H et al.
The Journal of Biological Chemistry, 2001
High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-positive melanoma families.
Borg A et al.
Journal of the National Cancer Institute, 2000