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Combining multiplexed assays of variant effect for enhanced BRCA2 variant classification.

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Title: Combining multiplexed assays of variant effect for enhanced BRCA2 variant classification.
Authors: Hu C; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Sahu S; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, Frederick, MD, USA.; Department of Cell Biology, NYU Grossman School of Medicine, New York, NY, USA., Chen W; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA., Galloux M; Independent Bioinformatician, Marseille, France., Richardson ME; Ambry Genetics, Aliso Viejo, CA, USA., Bishop MF; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Karam R; Ambry Genetics, Aliso Viejo, CA, USA., Pesaran T; Ambry Genetics, Aliso Viejo, CA, USA., Na J; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA., Huang H; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, MN, USA.; Graduate School of Biomedical Sciences, Mayo Clinic, Rochester, MN, USA., Weitzel JN; Division of Precision Prevention, University of Kansas Medical Center, Kansas City, KS, USA., Nathanson KN; Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Yadav S; Department of Oncology, Mayo Clinic, Rochester, MN, USA., Boddicker NJ; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA., Domchek SM; Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Monteiro AN; Department of Epidemiology, H. Lee Moffitt Cancer Center,, Tampa, FL, USA., Iversen ES; Department of Statistical Science, Duke University, Raleigh Durham, NC, USA., Sharan SK; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, Frederick, MD, USA. sharans@mail.nih.gov., Couch FJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA. couch.fergus@mayo.edu.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA. couch.fergus@mayo.edu.
Source: Nature communications [Nat Commun] 2026 Apr 09; Vol. 17 (1). Date of Electronic Publication: 2026 Apr 09.
Publication Type: Journal Article
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
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  Data: <searchLink fieldCode="AU" term="%22Hu+C%22">Hu C</searchLink>; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Sahu+S%22">Sahu S</searchLink>; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, Frederick, MD, USA.; Department of Cell Biology, NYU Grossman School of Medicine, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Chen+W%22">Chen W</searchLink>; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Galloux+M%22">Galloux M</searchLink>; Independent Bioinformatician, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Richardson+ME%22">Richardson ME</searchLink>; Ambry Genetics, Aliso Viejo, CA, USA.<br /><searchLink fieldCode="AU" term="%22Bishop+MF%22">Bishop MF</searchLink>; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Karam+R%22">Karam R</searchLink>; Ambry Genetics, Aliso Viejo, CA, USA.<br /><searchLink fieldCode="AU" term="%22Pesaran+T%22">Pesaran T</searchLink>; Ambry Genetics, Aliso Viejo, CA, USA.<br /><searchLink fieldCode="AU" term="%22Na+J%22">Na J</searchLink>; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Huang+H%22">Huang H</searchLink>; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, MN, USA.; Graduate School of Biomedical Sciences, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Weitzel+JN%22">Weitzel JN</searchLink>; Division of Precision Prevention, University of Kansas Medical Center, Kansas City, KS, USA.<br /><searchLink fieldCode="AU" term="%22Nathanson+KN%22">Nathanson KN</searchLink>; Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Yadav+S%22">Yadav S</searchLink>; Department of Oncology, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Boddicker+NJ%22">Boddicker NJ</searchLink>; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Domchek+SM%22">Domchek SM</searchLink>; Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Monteiro+AN%22">Monteiro AN</searchLink>; Department of Epidemiology, H. Lee Moffitt Cancer Center,, Tampa, FL, USA.<br /><searchLink fieldCode="AU" term="%22Iversen+ES%22">Iversen ES</searchLink>; Department of Statistical Science, Duke University, Raleigh Durham, NC, USA.<br /><searchLink fieldCode="AU" term="%22Sharan+SK%22">Sharan SK</searchLink>; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, Frederick, MD, USA. sharans@mail.nih.gov.<br /><searchLink fieldCode="AU" term="%22Couch+FJ%22">Couch FJ</searchLink>; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA. couch.fergus@mayo.edu.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA. couch.fergus@mayo.edu.
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