Associated Papers
Genomic determinants of response and resistance to pirtobrutinib in relapsed/refractory chronic lymphocytic leukemia.
Brown JR et al.
Blood, 2026
Stratifying variant deleteriousness and trait-modulating effect under human recent adaptation using the FIND model.
Fan X et al.
Genome 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
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
CDK4 phosphorylation status and rational use for combining CDK4/6 and BRAF/MEK inhibition in advanced thyroid carcinomas.
Pita JM et al.
Frontiers in Endocrinology, 2023
Clinical and genomic features of Chinese lung cancer patients with germline mutations.
Peng W et al.
Nature Communications, 2022
An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.
Lin J et al.
Frontiers in Immunology, 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
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-Inactivated Pancreatic Ductal Adenocarcinoma Exhibits Therapeutic Sensitivity to Paclitaxel: A Bioinformatics Study.
Lin JC et al.
Journal of Clinical Medicine, 2020
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
Application of a Serum Protein Signature for Pancreatic Cancer to Separate Cases from Controls in a Pancreatic Surveillance Cohort.
Potjer TP et al.
Translational Oncology, 2016
The CDKN2A/p16(INK) (4a) 5'UTR sequence and translational regulation: impact of novel variants predisposing to melanoma.
Andreotti V et al.
Pigment Cell & Melanoma Research, 2016
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
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
Functional analysis of CDKN2A/p16INK4a 5'-UTR variants predisposing to melanoma.
Bisio A et al.
Human Molecular Genetics, 2010
CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma.
Pastorino L et al.
Pigment Cell & Melanoma Research, 2008
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
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
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