ArticleJCO precision oncology2017
Consistency of
Article in JCO precision oncology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 48 citations in OpenAlex.
- Collaborative Group of the Americas on Inherited Gastrointestinal Cancer Position statement on multigene panel testing for patients with colorectal cancer and/or polyposis.Familial cancer · 2020Guideline
- Breast cancer screening for transgender individuals with breast cancer susceptibility genes.Translational breast cancer research : a journal focusing on translational research in breast cancer · 2025Review
- Early breast cancer in youngTherapeutic advances in medical oncology · 2025Review
- Clinical implications of conflicting variant interpretations in the cancer genetics clinic.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- Discrepancies in Genetic Testing Procedures of BRCA1/2 Mutations: A National Survey Across China.Molecular diagnosis & therapy · 2020Article
- Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.American journal of human genetics · 2020Article
- Novel bioinformatics quality control metric for next-generation sequencing experiments in the clinical context.Nucleic acids research · 2019Article
- Variant classification changes over time in BRCA1 and BRCA2.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening.Clinical genetics · 2019Article
- Lessons learned from two decades of BRCA1 and BRCA2 genetic testing: the evolution of data sharing and variant classification.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Review
- Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.Human mutation · 2018Article
- ClinVar at five years: Delivering on the promise.Human mutation · 2018Article
- Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.Human mutation · 2018Article
- Navigating the nuances of clinical sequence variant interpretation in Mendelian disease.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Review
- Identification of Misclassified ClinVar Variants via Disease Population Prevalence.American journal of human genetics · 2018Article
- Inherited Cancer in the Age of Next-Generation Sequencing.Biological research for nursing · 2018Review
- Clinical testing ofNPJ genomic medicine · 2018Article
- A new era in the interpretation of human genomic variation.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Sources of discordance among germ-line variant classifications in ClinVar.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Recent therapeutic advances in chronic lymphocytic leukemia.F1000Research · 2017Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
backgroundGenetic tests of the cancer predisposition genes
methodsClassifications of more than 2000
resultsPer-variant concordance was 98.5% (CI 97.9%-99.0%). All discordant variants were rare; thus, per patient concordance was estimated to be higher: 99.7%. ClinVar facilitated resolution of many of the discordant variants, and concordance increased to 99.0% per variant and 99.8% per patient when reclassified (but not yet resubmitted) variants and submission errors were addressed. Most of the remaining discordances appeared to involve either legitimate differences in expert judgment regarding particular scientific evidence, or were classifications that predated availability of important scientific evidence.
conclusionsSignificant classification disagreements among the professional clinical laboratories represented in ClinVar are infrequent yet important. The unrestricted sharing of clinical genetic data allows detailed interlaboratory quality control and peer review, as exemplified by this study.
Identifiers
What OpenQuestion holds
Registered trials
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.