Associated Papers
Multigene panel testing reveals the spectrum of non-BRCA germline variants in BRCA1/2-negative breast, ovarian, and prostate cancer patients from a Turkish cohort.
Paksoy B et al.
Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2026
Paired tumor-normal sequencing provides insights into the CDKN2A-associated tumor spectrum.
Breen KE et al.
Npj Precision Oncology, 2025
Computational modeling of human genetic variants in mice.
Dong K 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
Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice.
Wang C et al.
Iscience, 2024
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
Impact of Transcript (p16/p14ARF) Alteration on Cancer Risk in CDKN2A Germline Pathogenic Variant Carriers.
Sargen MR et al.
Jnci Cancer Spectrum, 2022
Sequence and Structure-Based Analyses of Human Ankyrin Repeats.
Chakrabarty B et al.
Molecules (basel, Switzerland), 2022
Characterization of Blood-Based Molecular Profiling in Pancreatic Adenocarcinoma.
Chung C et al.
Oncology (williston Park, N.y.), 2021
The LOVD3 platform: efficient genome-wide sharing of genetic variants.
Fokkema IFAC et al.
European Journal of Human Genetics : Ejhg, 2021
Rearrangement-mediated cis-regulatory alterations in advanced patient tumors reveal interactions with therapy.
Zhang Y et al.
Cell Reports, 2021
The Role of Inherited Pathogenic CDKN2A Variants in Susceptibility to Pancreatic Cancer.
Kimura H et al.
Pancreas, 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
A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition Genes.
De Simone P et al.
International Journal of Molecular Sciences, 2020
Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.
Nassar AH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
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
Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded Material.
de Leng WW et al.
Plos One, 2016
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
Familial melanoma: clinical factors associated with germline CDKN2A mutations according to the number of patients affected by melanoma in a family.
Maubec E et al.
Journal of the American Academy of Dermatology, 2012
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
Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A.
McKenzie HA et al.
Human Mutation, 2010
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
CDKN2A/CDK4 molecular study on 155 Italian subjects with familial and/or primary multiple melanoma.
Majore S et al.
Pigment Cell & Melanoma Research, 2008
The M53I mutation in CDKN2A is a founder mutation that predominates in melanoma patients with Scottish ancestry.
Lang J et al.
Genes, Chromosomes & Cancer, 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
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
Prospective risk of cancer in CDKN2A germline mutation carriers.
Goldstein AM et al.
Journal of Medical Genetics, 2004
Geographical variation in the penetrance of CDKN2A mutations for melanoma.
Bishop DT et al.
Journal of the National Cancer Institute, 2002
High prevalence of the G101W germline mutation in the CDKN2A (P16(ink4a)) gene in 62 Italian malignant melanoma families.
Mantelli M et al.
American Journal of Medical Genetics, 2002
Mutations in the INK4a/ARF melanoma susceptibility locus functionally impair p14ARF.
Rizos H et al.
The Journal of Biological Chemistry, 2001
CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation.
Della Torre G et al.
British Journal of Cancer, 2001
Genotype-phenotype relationships in U.S. melanoma-prone families with CDKN2A and CDK4 mutations.
Goldstein AM et al.
Journal of the National Cancer Institute, 2000
Mutation screening of the CDKN2A promoter in melanoma families.
Harland M et al.
Genes, Chromosomes & Cancer, 2000
Functional evaluation of tumour-specific variants of p16INK4a/CDKN2A: correlation with protein structure information.
Ruas M et al.
Oncogene, 1999
Biologic and biochemical analyses of p16(INK4a) mutations from primary tumors.
Yarbrough WG et al.
Journal of the National Cancer Institute, 1999
Functional reassessment of P16 variants using a transfection-based assay.
Walker GJ et al.
International Journal of Cancer, 1999
Mutation testing in melanoma families: INK4A, CDK4 and INK4D.
Newton Bishop JA et al.
British Journal of Cancer, 1999
Tumor suppressor p16INK4A: determination of solution structure and analyses of its interaction with cyclin-dependent kinase 4.
Byeon IJ et al.
Molecular Cell, 1998