Article

Specifications of the ACMG/AMP variant interpretation guidelines for germline <i>TP53</i> variants

2020-05-01

Abstract excerpt

<h4>ABSTRACT</h4> Germline pathogenic variants in TP53 are associated with Li-Fraumeni syndrome (LFS), an autosomal dominant cancer predisposition disorder associated with high risk of malignancy, including early onset breast cancers, sarcomas, adrenocortical carcinomas and brain tumors. Intense cancer surveillance for individuals with TP53 germline pathogenic variants has been shown to decrease mortality; therefo...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: aa5ff390-ee3d-5ea1-bcf9-7434e26ab71d
DOI: 10.1101/2020.04.25.20078931

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Specifications of the ACMG/AMP variant interpretation guidelines for germline <i>TP53</i> variantsDOI 10.1101/2020.04.25.20078931Read

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

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert PanelSemantic proximity Read

Genotypic and Phenotypic Characteristics of Germline TP53 Variant Carriers: Experience from Two Cancer Genetic Counseling UnitsSemantic proximity Read

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel.Semantic proximity Read

Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene <i>TP53</i>Semantic proximity Read

Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice.Semantic proximity Read

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline<i>ATM</i>sequence variantsSemantic proximity Read

Fine resolution clustering of<i>TP53</i>variants into functional classes predicts cancer risks and spectra among germline variant carriersSemantic proximity Read

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

TP53 variants of uncertain significance: increasing challenges in variant interpretation and genetic counselingSemantic proximity Read

SEOM clinical guideline on heritable TP53-related cancer syndrome (2022).Semantic proximity Read