Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points–Based Framework

We have established functional assays as a reliable tool that will better interpret the clinical impact of ATM variants and guide improved cancer prevention measures for carriers.

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Publication Details

Journal
Clinical Cancer Research
Published
2025-03-19
DOI
https://doi.org/10.1158/1078-0432.ccr-24-3936
Citations
1
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
1.82
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article

Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points–Based Framework

Paul R. Andreassen, Nikita Malev, Helmut Hanenberg, Brett Klamer et al.
1 citations
Clinical Cancer Research
Genomics and Rare Diseases
1.82
article

Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points–Based Framework

Paul R. Andreassen, Nikita Malev, Helmut Hanenberg, Brett Klamer, Christoph Engel, Amanda Ewart Toland, Amber M. Aeilts, Constanze Wiek, Nicolas Nassar, Jan Hauke, Dieter Niederacher, Julia Hentschel, Ulrike Faust, Fan Zhang, Andrea Gehrig, Tyler Hesselbrock, Judith H. Hanenberg
article en
1 citations

Abstract

We have established functional assays as a reliable tool that will better interpret the clinical impact of ATM variants and guide improved cancer prevention measures for carriers.

Clinical Cancer ResearchVol. 31(12)
Cincinnati Children's Hospital Medical Center (US), University of Cologne (DE), University of Würzburg (DE), The Ohio State University Wexner Medical Center (US), Düsseldorf University Hospital (DE), Institute of Human Genetics (PL), Essen University Hospital (DE), University Children's Hospital Tübingen (DE), University Hospital Cologne (DE), Heinrich Heine University Düsseldorf (DE), The Ohio State University (US), University of Duisburg-Essen (DE), University of Tübingen (DE), University of Cincinnati Medical Center (US), Leipzig University (DE)
Life in Land
Openalex Percentile: Top 17%
Genomics and Rare Diseases
1.82
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