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
Two Japanese families with familial pancreatic cancer with suspected pathogenic variants of CDKN2A: a case report.
Kiyozumi Y et al.
Hereditary Cancer in Clinical Practice, 2024
Disruptor: Computational identification of oncogenic mutants disrupting protein-protein and protein-DNA interactions.
Kugler V et al.
Communications Biology, 2023
The LOVD3 platform: efficient genome-wide sharing of genetic variants.
Fokkema IFAC et al.
European Journal of Human Genetics : Ejhg, 2021
Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants.
Overbeek KA et al.
Journal of Medical Genetics, 2021
CDKN2A germline alterations and the relevance of genotype-phenotype associations in cancer predisposition.
Chan SH et al.
Hereditary Cancer in Clinical Practice, 2021
Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.
Manca A et al.
Journal of Translational Medicine, 2019
Germline and somatic mutations in patients with multiple primary melanomas: a next generation sequencing study.
Casula M et al.
Bmc Cancer, 2019
Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI.
Carraro M et al.
Human Mutation, 2017
Missense variant pathogenicity predictors generalize well across a range of function-specific prediction challenges.
Pejaver V et al.
Human Mutation, 2017
Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup.
Bruno W et al.
Journal of the American Academy of Dermatology, 2016
Absence of germline CDKN2A mutation in Sicilian patients with familial malignant melanoma: Could it be a population-specific genetic signature?
Di Lorenzo S et al.
Cancer Biology & Therapy, 2016
Epidemiological features and prognostic parameters of multiple primary melanomas in CDKN2A-mutations patients.
De Giorgi V et al.
Pigment Cell & Melanoma Research, 2015
CDKN2A mutations could influence the dermoscopic pattern of presentation of multiple primary melanoma: a clinical dermoscopic genetic study.
De Giorgi V et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2015
CDKN2A unclassified variants in familial malignant melanoma: combining functional and computational approaches for their assessment.
Scaini MC et al.
Human Mutation, 2014
Classifying variants of CDKN2A using computational and laboratory studies.
Miller PJ et al.
Human Mutation, 2011
Mutational analysis of CDKN2A gene in a group of 390 larynx cancer patients.
Kiwerska K et al.
Molecular Biology Reports, 2010
Clinical genetic testing for familial melanoma in Italy: a cooperative study.
Bruno W et al.
Journal of the American Academy of Dermatology, 2009
The p.G23S CDKN2A founder mutation in high-risk melanoma families from Central Italy.
Gensini F et al.
Melanoma Research, 2007
CDKN2A germline mutations in individuals with cutaneous malignant melanoma.
Orlow I et al.
The Journal of Investigative Dermatology, 2007
The prevalence of CDKN2A germ-line mutations and relative risk for cutaneous malignant melanoma: an international population-based study.
Berwick M et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2006
Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample.
Begg CB et al.
Journal of the National Cancer Institute, 2005