Nature Communications (Jan 2023)
Germline TP53 mutations undergo copy number gain years prior to tumor diagnosis
- Nicholas Light,
- Mehdi Layeghifard,
- Ayush Attery,
- Vallijah Subasri,
- Matthew Zatzman,
- Nathaniel D. Anderson,
- Rupal Hatkar,
- Sasha Blay,
- David Chen,
- Ana Novokmet,
- Fabio Fuligni,
- James Tran,
- Richard de Borja,
- Himanshi Agarwal,
- Larissa Waldman,
- Lisa M. Abegglen,
- Daniel Albertson,
- Jonathan L. Finlay,
- Jordan R. Hansford,
- Sam Behjati,
- Anita Villani,
- Moritz Gerstung,
- Ludmil B. Alexandrov,
- Gino R. Somers,
- Joshua D. Schiffman,
- Varda Rotter,
- David Malkin,
- Adam Shlien
Affiliations
- Nicholas Light
- Genetics and Genome Biology, The Hospital for Sick Children
- Mehdi Layeghifard
- Genetics and Genome Biology, The Hospital for Sick Children
- Ayush Attery
- Department of Molecular Cell Biology, The Weizmann Institute of Science
- Vallijah Subasri
- Genetics and Genome Biology, The Hospital for Sick Children
- Matthew Zatzman
- Genetics and Genome Biology, The Hospital for Sick Children
- Nathaniel D. Anderson
- Genetics and Genome Biology, The Hospital for Sick Children
- Rupal Hatkar
- Genetics and Genome Biology, The Hospital for Sick Children
- Sasha Blay
- Genetics and Genome Biology, The Hospital for Sick Children
- David Chen
- Genetics and Genome Biology, The Hospital for Sick Children
- Ana Novokmet
- Genetics and Genome Biology, The Hospital for Sick Children
- Fabio Fuligni
- Genetics and Genome Biology, The Hospital for Sick Children
- James Tran
- Genetics and Genome Biology, The Hospital for Sick Children
- Richard de Borja
- Genetics and Genome Biology, The Hospital for Sick Children
- Himanshi Agarwal
- Department of Molecular Cell Biology, The Weizmann Institute of Science
- Larissa Waldman
- Division of Clinical and Metabolic Genetics, The Hospital for Sick Children
- Lisa M. Abegglen
- Department of Pediatrics and Huntsman Cancer Institute, University of Utah
- Daniel Albertson
- Department of Pathology, University of Utah School of Medicine
- Jonathan L. Finlay
- Departments of Pediatrics and Radiation Oncology, The Ohio State University College of Medicine
- Jordan R. Hansford
- Children’s Cancer Centre, Royal Children’s Hospital
- Sam Behjati
- Wellcome Sanger Institute
- Anita Villani
- Division of Hematology/Oncology, The Hospital for Sick Children
- Moritz Gerstung
- European Molecular Biology Laboratory, European Bioinformatics Institute EMBL-EBI
- Ludmil B. Alexandrov
- Department of Cellular and Molecular Medicine, Department of Bioengineering and Moores Cancer Center, University of California
- Gino R. Somers
- Department of Laboratory Medicine and Pathobiology, University of Toronto
- Joshua D. Schiffman
- Department of Pediatrics and Huntsman Cancer Institute, University of Utah
- Varda Rotter
- Department of Molecular Cell Biology, The Weizmann Institute of Science
- David Malkin
- Genetics and Genome Biology, The Hospital for Sick Children
- Adam Shlien
- Genetics and Genome Biology, The Hospital for Sick Children
- DOI
- https://doi.org/10.1038/s41467-022-35727-y
- Journal volume & issue
-
Vol. 14,
no. 1
pp. 1 – 12
Abstract
Li-Fraumeni syndrome (LFS) is associated with pathogenic germline TP53 variants and predisposes patients to cancer; understanding the evolution and drivers of LFS-related tumours remains crucial. Here, the authors analyse 22 LFS tumours using whole-genome sequencing and reconstruct the evolution and timing of somatic driver alterations.
