Associated Papers
Structural analysis of the impact of germline mutations of p16 in melanoma prone families.
Arun D et al.
Molecular Diversity, 2025
Distinct pathways for genetic and epigenetic predisposition in familial and bilateral Wilms tumor.
Wegert J et al.
Genome Medicine, 2025
Comprehensive mapping elucidates high risk genotypes in primary metastatic breast cancer.
Berg T et al.
Neoplasia (new York, N.y.), 2025
40121945 (PubMed )
Supplement: mmc5.xlsx › Ark1
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-fig2-figsupp3-data1.xlsx › Figure_2-figure_supplement_3A
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
Functional CDKN2A assay identifies frequent deleterious alleles misclassified as variants of uncertain significance.
Kimura H et al.
Elife, 2022
Sequence and Structure-Based Analyses of Human Ankyrin Repeats.
Chakrabarty B et al.
Molecules (basel, Switzerland), 2022
35056738 (PubMed )
Supplement: molecules-27-00423-s001.zip › SupplementaryFileS4.xlsx › Sheet1
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
A novel CDKN2A variant (p16L117P ) in a patient with familial and multiple primary melanomas.
Li C et al.
Pigment Cell & Melanoma Research, 2019
CDKN2A/CDK4 Status in Greek Patients with Familial Melanoma and Association with Clinico-epidemiological Parameters.
Karagianni F et al.
Acta Dermato-venereologica, 2018
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
25780468 (PubMed )
Supplement: 13053_2014_472_MOESM2_ESM.xlsx › Sheet1
Familial melanoma-associated mutations in p16 uncouple its tumor-suppressor functions.
Jenkins NC et al.
The Journal of Investigative Dermatology, 2013
Classifying variants of CDKN2A using computational and laboratory studies.
Miller PJ et al.
Human Mutation, 2011
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
A CDKN2A mutation in familial melanoma that abrogates binding of p16INK4a to CDK4 but not CDK6.
Jones R et al.
Cancer Research, 2007
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