Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Quantification of Discordant Variant Interpretations in a Large Family-Based Study of Li-Fraumeni Syndrome.

JCO precision oncology - 1 Jan 2021

Frone Megan N, Stewart Douglas R, Savage Sharon A, Khincha Payal P

Abstract excerpt

PURPOSE: The use of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines has improved germline variant classification concordance, but discrepancies persist, sometimes directly affecting medical management. We evaluated variant discordance between and within families with germline TP53 variants in the National Cancer Institute's Li-Fraumeni syndrome...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cohort Studies
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Li-Fraumeni Syndrome

Share to Longitudinal Studies

Share to Tumor Suppressor Protein p53

Source

Open in PubMed Open full text

Identifiers

PMID: 34805717
DOI: 10.1200/PO.21.00320
PMCID: PMC8594664

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Quantification of Discordant Variant Interpretations in a Large Family-Based Study of Li-Fraumeni Syndrome.PMID 34805717Read ↗

Specifications of the ACMG/AMP variant interpretation guidelines for germline <i>TP53</i> variantsSemantic proximity Read ↗

Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations.Semantic proximity Read ↗

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.Semantic proximity Read ↗

A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome.Semantic proximity Read ↗

Evolution of germline TP53 variant classification in children with cancer.Semantic proximity Read ↗

An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategy.Semantic proximity Read ↗

Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing.Semantic proximity Read ↗

Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysisSemantic proximity Read ↗

Clustering of TP53 variants into functional classes correlates with cancer risk and identifies different phenotypes of Li-Fraumeni syndromeSemantic proximity Read ↗

A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes.Semantic proximity Read ↗

Performance of LFSPRO <i>TP53</i> germline carrier risk predictions compared to standard genetic counseling practice on prospectively collected probandsSemantic proximity Read ↗

The Frequency of Discordant Variant Classification in the Human Gene Mutation Database: A Comparison of the American College of Medical Genetics and Genomics Guidelines and ClinVar.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.