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
Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.
Plowman JN et al.
Hgg Advances, 2024
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.
Pantaleo A et al.
Cancers, 2023
Germline Alterations in Patients With IBD-associated Colorectal Cancer.
Biscaglia G et al.
Inflammatory Bowel Diseases, 2022
Functional CDKN2A assay identifies frequent deleterious alleles misclassified as variants of uncertain significance.
Kimura H et al.
Elife, 2022
The LOVD3 platform: efficient genome-wide sharing of genetic variants.
Fokkema IFAC et al.
European Journal of Human Genetics : Ejhg, 2021
Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.
Pearlman R et al.
Jco Precision Oncology, 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
Familial pancreatic adenocarcinoma: A retrospective analysis of germline genetic testing in a French multicentre cohort.
Schwartz M et al.
Clinical Genetics, 2019
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
Genomic Profiling on an Unselected Solid Tumor Population Reveals a Highly Mutated Wnt/β-Catenin Pathway Associated with Oncogenic EGFR Mutations.
Jiang J et al.
Journal of Personalized Medicine, 2018
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
DeRycke MS et al.
Molecular Genetics & Genomic Medicine, 2017
p16INK4A enhances the transcriptional and the apoptotic functions of p53 through DNA-dependent interaction.
Al-Khalaf HH et al.
Molecular Carcinogenesis, 2017
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
Use of panel tests in place of single gene tests in the cancer genetics clinic.
Yorczyk A et al.
Clinical Genetics, 2015
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
Yurgelun MB et al.
Gastroenterology, 2015
CDKN2A unclassified variants in familial malignant melanoma: combining functional and computational approaches for their assessment.
Scaini MC et al.
Human Mutation, 2014
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Bodian DL et al.
Plos One, 2014
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
CDKN2A is the main susceptibility gene in Italian pancreatic cancer families.
Ghiorzo P et al.
Journal of Medical Genetics, 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
In silico analysis of structural and functional consequences in p16INK4A by deleterious nsSNPs associated CDKN2A gene in malignant melanoma.
Rajasekaran R et al.
Biochimie, 2008
Inhibition of growth of human leukemia cell lines by retrovirally expressed wild-type p16INK4A.
Gombart AF et al.
Leukemia, 1997
The CDKN2A (p16) gene and human cancer.
Foulkes WD et al.
Molecular Medicine (cambridge, Mass.), 1997
Compilation of somatic mutations of the CDKN2 gene in human cancers: non-random distribution of base substitutions.
Pollock PM et al.
Genes, Chromosomes & Cancer, 1996