Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.


Journal

Cancer research communications
ISSN: 2767-9764
Titre abrégé: Cancer Res Commun
Pays: United States
ID NLM: 9918281580506676

Informations de publication

Date de publication:
05 2023
Historique:
received: 07 10 2022
revised: 19 01 2023
accepted: 29 03 2023
medline: 30 6 2023
pubmed: 28 6 2023
entrez: 28 6 2023
Statut: epublish

Résumé

Li-Fraumeni syndrome (LFS) is an autosomal dominant cancer-predisposition disorder. Approximately 70% of individuals who fit the clinical definition of LFS harbor a pathogenic germline variant in the Our study clarifies the genomic basis for the phenotypic variability in LFS and highlights the immense benefits of expanding genetic and epigenetic testing of patients with LFS beyond

Identifiants

pubmed: 37377903
doi: 10.1158/2767-9764.CRC-22-0402
pii: CRC-22-0402
pmc: PMC10150777
doi:

Substances chimiques

Tumor Suppressor Protein p53 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

738-754

Informations de copyright

© 2023 The Authors; Published by the American Association for Cancer Research.

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Auteurs

Vallijah Subasri (V)

Department of Medical Biophysics, University of Toronto, Toronto, Ontario, Canada.
Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Vector Institute, Toronto, Ontario, Canada.

Nicholas Light (N)

Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada.

Nisha Kanwar (N)

Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.

Jack Brzezinski (J)

Division of Haematology/Oncology, The Hospital for Sick Children, Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada.

Ping Luo (P)

Princess Margaret Cancer Center, University Health Network, Toronto, Ontario, Canada.

Jordan R Hansford (JR)

Children's Cancer Centre, Royal Children's Hospital, Melbourne, Victoria, Australia.
Murdoch Children's Research Institute, Parkville, Victoria, Australia.
Department of Pediatrics, University of Melbourne, Melbourne, Australia.
Michael Rice Cancer Centre, Women's and Children's Hospital, North Adelaide, South Australia, Australia.
South Australia Health and Medical Research Institute, Adelaide, South Australia, Australia.
South Australia Immunogenomics Cancer Institute, University of Adelaide, Adelaide, Australia.

Elizabeth Cairney (E)

Department of Paediatrics, London Health Sciences Centre and Western University, London, Ontario, Canada.

Carol Portwine (C)

Department of Paediatrics, McMaster University, Hamilton, Ontario, Canada.

Christine Elser (C)

Department of Medical Oncology, Princess Margaret Hospital and Mount Sinai Hospital, Toronto, Ontario, Canada.
Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.

Jonathan L Finlay (JL)

Neuro-Oncology Program, Nationwide Children's Hospital and The Ohio State University, Columbus, Ohio.

Kim E Nichols (KE)

Department of Oncology, St Jude Children's Research Hospital, Memphis, Tennessee.

Noa Alon (N)

Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.

Ledia Brunga (L)

Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.

Jo Anson (J)

Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah.

Wendy Kohlmann (W)

Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah.

Kelvin C de Andrade (KC)

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, NCI, Bethesda, Maryland.

Payal P Khincha (PP)

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, NCI, Bethesda, Maryland.

Sharon A Savage (SA)

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, NCI, Bethesda, Maryland.

Joshua D Schiffman (JD)

Department of Pediatrics, University of Utah, Salt Lake City, Utah.
PEEL Therapeutics, Inc., Salt Lake City, Utah.

Rosanna Weksberg (R)

Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.

Trevor J Pugh (TJ)

Department of Medical Biophysics, University of Toronto, Toronto, Ontario, Canada.
Princess Margaret Cancer Center, University Health Network, Toronto, Ontario, Canada.
Ontario Institute for Cancer Research, Toronto, Ontario, Canada.

Anita Villani (A)

Division of Haematology/Oncology, The Hospital for Sick Children, Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada.

Adam Shlien (A)

Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.

Anna Goldenberg (A)

Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Vector Institute, Toronto, Ontario, Canada.
CIFAR: Child and Brain Development, Toronto, Ontario, Canada.
Department of Computer Science, University of Toronto, Toronto, Ontario, Canada.

David Malkin (D)

Department of Medical Biophysics, University of Toronto, Toronto, Ontario, Canada.
Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Division of Haematology/Oncology, The Hospital for Sick Children, Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada.

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