A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome.
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| Title: | A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome. |
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| Authors: | Fortuno C; Population Health Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia. cristina.fortuno@qimrberghofer.edu.au., Frone MN; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD, USA. megan.frone@nih.gov., Mester J; GeneDx, Gaithersburg, MD, USA., de la Hoya M; Molecular Oncology Laboratory, Hospital Clinico San Carlos, Instituto de Investigación Sanitaria San Carlos (IdISSC), Madrid, Spain., Mai PL; Center for Clinical Genetics and Genomics, Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA, USA., Pesaran T; Ambry Genetics, Aliso Viejo, CA, USA., Achatz MI; Centro de Oncologia, Hospital Sírio-Libanês, São Paulo, Brazil., Bassett R; Moanalua Medical Center, Hawaii Permanente Medical Group, Kaiser Permanente, Honolulu, HI, USA., Bustamante C; OC Precision Medicine, São Paulo, Brazil., Crowley S; Invitae Corporation, San Francisco, CA, USA., de Andrade KC; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD, USA., Evans DG; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK., Feng B; University of Utah, Salt Lake City, UT, USA., Fuqua L; Baylor Genetics, Houston, TX, USA., Harrell MI; Labcorp Genetics (Formerly Invitae Corp), Burlington, NC, USA., Hatton JN; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD, USA., Huether R; Tempus AI, Chicago, IL, USA., Kesserwan C; Department of Pathology, NYU Grossman School of Medicine, New York, NY, USA., Lee K; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., MacFarland SP; Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Maciaszek JL; Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA., Maxwell K; Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., McGoldrick K; Ambry Genetics, Aliso Viejo, CA, USA., Murphy M; Program in Molecular and Cellular Oncogenesis, The Wistar Institute, Philadelphia, USA., Nehoray B; Division of Clinical Cancer Genomics, Departments of Medical Oncology and Therapeutics Research and Population Sciences, City of Hope, Duarte, CA, USA., Penkert J; Department of Human Genetics, Hannover Medical School, Hannover, Germany.; Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany., Pinto EM; Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA., Plon SE; Dan L. Duncan Cancer Center and the Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Schwartz-Levine A; Division of Cancer Genetics and Prevention, Dana-Farber Cancer Institute, Boston, MA, USA., Thompson AS; Department of Pathology, Microbiology, and Immunology, Molecular Diagnostics Section, Vanderbilt Medical Laboratories, Nashville, TN, USA., Wang W; Department of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA., Zambetti GP; Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA., Zelley K; Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., James PA; Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia., Savage SA; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD, USA., Kratz CP; Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany., Spurdle AB; Population Health Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia. |
| Source: | Genome medicine [Genome Med] 2025 Oct 22; Vol. 17 (1), pp. 128. Date of Electronic Publication: 2025 Oct 22. |
| Publication Type: | Journal Article; Review; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1756-994X |
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| DOI: | 10.1186/s13073-025-01536-3 |
