ArticleeLife2022
Functional CDKN2A assay identifies frequent deleterious alleles misclassified as variants of uncertain significance.
Open access · goldAbstract read
In one paragraph
Article in eLife, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
2.0field-weighted citation impact, top 12% of its field
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
12 citing papers in PubMed, 19 citations in OpenAlex.
- Targeted Therapy in Pancreatic Ductal Adenocarcinoma: Current Advances and Challenges.Current oncology (Toronto, Ont.) · 2026Review
- Loss of heterozygosity exposes germline mutations in complex I and drives Warburg metabolism in oncocytic carcinoma of the thyroid.Science advances · 2026Article
- DNMT3A p.R882C driven proliferation and anti-apoptotic effects in pancreatic cancer cells.Scientific reports · 2026Article
- Loss of heterozygosity exposes germline mutations in complex I and drives Warburg metabolism in oncocytic carcinoma of the thyroid.bioRxiv : the preprint server for biology · 2025Article
- Paired tumor-normal sequencing provides insights into the CDKN2A-associated tumor spectrum.NPJ precision oncology · 2025Article
- Genetic evaluation of pediatric pituitary adenomas and USP8-related genotype-phenotype correlations in Cushing's disease.Pituitary · 2025Article
- Reclassifying a Novel POMT1 Variant by Integrating Functional Analysis and Bioinformatics: Implications for Preimplantation Genetic Testing.Reproductive sciences (Thousand Oaks, Calif.) · 2025Article
- Functional characterization of alleLife · 2025Article
- Significance of TP53, CDKN2A, SMAD4 and KRAS in Pancreatic Cancer.Current issues in molecular biology · 2024Review
- Population screening shows risk of inherited cancer and familial hypercholesterolemia in Oregon.American journal of human genetics · 2023Article
- High tyrosine threonine kinase expression predicts a poor prognosis: a potential therapeutic target for endometrial carcinoma.Annals of translational medicine · 2022Article
- Predictors of germline status for hereditary melanoma: 5 years of multi-gene panel testing within the Italian Melanoma Intergroup.ESMO open · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 1 institution in 1 country.
Hirokazu KimuraThe Sol Goldman Pancreatic Cancer Research Center, Department of Pathology, Johns Hopkins University, Baltimore, United States.
Raymond M ParanalThe Sol Goldman Pancreatic Cancer Research Center, Department of Pathology, Johns Hopkins University, Baltimore, United States.
Neha NandaThe Sol Goldman Pancreatic Cancer Research Center, Department of Pathology, Johns Hopkins University, Baltimore, United States.
Laura D WoodThe Sol Goldman Pancreatic Cancer Research Center, Department of Pathology, Johns Hopkins University, Baltimore, United States.
James R EshlemanThe Sol Goldman Pancreatic Cancer Research Center, Department of Pathology, Johns Hopkins University, Baltimore, United States.
Ralph H HrubanThe Sol Goldman Pancreatic Cancer Research Center, Department of Pathology, Johns Hopkins University, Baltimore, United States.
Michael G GogginsThe Sol Goldman Pancreatic Cancer Research Center, Department of Pathology, Johns Hopkins University, Baltimore, United States.
Alison P KleinThe Sol Goldman Pancreatic Cancer Research Center, Department of Pathology, Johns Hopkins University, Baltimore, United States.
Familial Pancreatic Cancer Genome Sequencing Project
Nicholas J RobertsThe Sol Goldman Pancreatic Cancer Research Center, Department of Pathology, Johns Hopkins University, Baltimore, United States.ORCID 0000-0002-8709-0664
Johns Hopkins University · US
Funding
X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Hongbiao Carl Lekaye · 1985 to 2026
$347.4MTranslational Research Central ServicesP30CA006973 · NCI · JOHNS HOPKINS UNIVERSITY · PI WILLIAM George NELSON · 1985 to 2026
$208.6MTumor Antigens for Individual Signatures and TherapyP50CA062924 · NCI · JOHNS HOPKINS UNIVERSITY · PI JAFFEE, ELIZABETH M. · 1993 to 2022
$54.6MTissue CoreP50CA102701 · NCI · MAYO CLINIC ROCHESTER · PI MUKHOPADHYAY, DEBABRATA · 2004 to 2018
$32.7MPancreatic Cancer Genetic Epidemiology Consortium (PACGENE)R01CA097075 · NCI · MAYO CLINIC ROCHESTER · PI PETERSEN, GLORIA M. · 2002 to 2012
$15.8MThe Prrx-1 transcription factor in pancreatic ductal biologyR01DK060694 · NIDDK · UNIVERSITY OF PENNSYLVANIA · PI CHANDWANI, ROHIT, RUSTGI, ANIL K · 2002 to 2025
$8.3MValidation and Fine-Scale Mapping of Pancreatic Cancer Susceptibility Loci (Study)R01CA154823 · NCI · JOHNS HOPKINS UNIVERSITY · PI KLEIN, ALISON P · 2011 to 2020
$5.7MRole of Vav1 protooncogene in pancreatic cancerP20CA102701 · NCI · MAYO CLINIC COLL OF MEDICINE, ROCHESTER · PI PETERSEN, GLORIA M. · 2003 to 2003
$1.5MGENES FROM THE FAP LOCUSR01CA057345 · NCI · JOHNS HOPKINS UNIVERSITY · PI KINZLER, KENNETH W. · 1992 to 2001
$734kCytek Aurora full spectrum flow cytometric analyzerS10OD026859 · OD · JOHNS HOPKINS UNIVERSITY · PI WANG, ZACK Z. · 2019 to 2019
$242kIntegrative Analyses to Identify Pancreatic Cancer Susceptibility GenesK99CA190889 · NCI · JOHNS HOPKINS UNIVERSITY · PI ROBERTS, NICHOLAS JASON · 2015 to 2016
$172kNCI NIH HHS K99 CA190889NCI NIH HHS P20 CA102701NCI NIH HHS P30 CA006973NCI NIH HHS P30 CA008748NCI NIH HHS P50 CA062924NCI NIH HHS P50 CA102701NCI NIH HHS R01 CA057345NCI NIH HHS R01 CA097075NCI NIH HHS R01 CA154823NIDDK NIH HHS R01 DK060694NIH HHS S10 OD026859
Abstract
Pathogenic germline
Indexed as
Germ-Line MutationAllelesCarcinoma, Pancreatic DuctalCyclin-Dependent Kinase Inhibitor p16HumansPancreatic NeoplasmsCDKN2A protein, humanCyclin-Dependent Kinase Inhibitor p16cancercancer biologyCDKN2Afamilial cancergeneticsgenomicshumanpancreaspancreatic ductal adenocarcinomavariant of uncertain significance
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY
Read underepoch 390
Registered trials
None linked
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.