Associated Papers
Functional characterization of all CDKN2A missense variants and comparison to in silico models of pathogenicity.
Kimura H et al.
Elife, 2025
40238651 (PubMed )
Supplement: elife-95347-supp10.xlsx › Appendix_1-table_10
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
38234851 (PubMed )
Supplement: media-2.pdf
Phenotypic and Genetic Features that Differ Between Hereditary and Sporadic Melanoma: Results of a Preliminary Study from a Single Center from Turkey.
Cakir A et al.
Dermatology Practical & Conceptual, 2023
Impact of Transcript (p16/p14ARF) Alteration on Cancer Risk in CDKN2A Germline Pathogenic Variant Carriers.
Sargen MR et al.
Jnci Cancer Spectrum, 2022
36269225 (PubMed )
Supplement: pkac074_supplementary_data.pdf
The LOVD3 platform: efficient genome-wide sharing of genetic variants.
Fokkema IFAC et al.
European Journal of Human Genetics : Ejhg, 2021
34521998 (PubMed )
Supplement: 41431_2021_959_MOESM4_ESM.pdf
Clinical Validation of Whole Genome Sequencing for Cancer Diagnostics.
Roepman P et al.
The Journal of Molecular Diagnostics : Jmd, 2021
Cancer risks and survival in patients with multiple primary melanomas: Association with family history of melanoma and germline CDKN2A mutation status.
Helgadottir H et al.
Journal of the American Academy of Dermatology, 2017
High-Throughput Genomic Profiling of Adult Solid Tumors Reveals Novel Insights into Cancer Pathogenesis.
Hartmaier RJ et al.
Cancer Research, 2017
Uptake of genetic counseling, genetic testing and surveillance in hereditary malignant melanoma (CDKN2A) in Norway.
Levin T et al.
Familial Cancer, 2017
Classifying variants of CDKN2A using computational and laboratory studies.
Miller PJ et al.
Human Mutation, 2011
Frequent deletion and methylation in SH3GL2 and CDKN2A loci are associated with early- and late-onset breast carcinoma.
Sinha S et al.
Annals of Surgical Oncology, 2008
Population-based prevalence of CDKN2A and CDK4 mutations in patients with multiple primary melanomas.
Helsing P et al.
Genes, Chromosomes & Cancer, 2008
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