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.
Authors
- Paul R. Andreassen (ORCID: https://orcid.org/0000-0002-9760-1595)
- Nikita Malev (ORCID: https://orcid.org/0009-0004-6496-0446)
- Helmut Hanenberg (ORCID: https://orcid.org/0000-0003-0451-2735)
- Brett Klamer (ORCID: https://orcid.org/0000-0002-8334-4831)
- Christoph Engel (ORCID: https://orcid.org/0000-0002-7247-282X)
- Amanda Ewart Toland (ORCID: https://orcid.org/0000-0002-0271-1792)
- Amber M. Aeilts (ORCID: https://orcid.org/0000-0001-8907-7853)
- Constanze Wiek (ORCID: https://orcid.org/0000-0003-2214-8148)
- Nicolas Nassar (ORCID: https://orcid.org/0000-0003-0481-4784)
- Jan Hauke (ORCID: https://orcid.org/0000-0001-8236-4075)
- Dieter Niederacher (ORCID: https://orcid.org/0000-0001-6231-9226)
- Julia Hentschel (ORCID: https://orcid.org/0000-0002-5706-1424)
- Ulrike Faust (ORCID: https://orcid.org/0000-0002-2323-3654)
- Fan Zhang (ORCID: https://orcid.org/0009-0005-4449-0579)
- Andrea Gehrig
- Tyler Hesselbrock
- Judith H. Hanenberg
Institutions
- 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)
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