P124: Liquid biopsy for early cancer detection in children and adults with hereditary cancer syndromes across Canada
Conclusion: CENAS holds significant promise as a point-of-care diagnostic tool for the rapid, low-cost, and bedside detection of PML::RARA fusions in APL patients.With early mortality rates still as high as 15% and approximately 10% of patients either resistant to initial therapy or experiencing relapse, there is a pressing need for more efficient diagnostic and therapeutic strategies.CENAS's ability to identify novel genomic factors associated with atypical PML::RARA fusions offers critical insights that could significantly enhance prognosis and inform treatment decisions in APL.These findings suggest that CENAS not only serves as an effective diagnostic tool for detecting fusion status, but also has the potential to uncover new genetic markers that may influence disease progression, therapeutic resistance, and treatment response.This could pave the way for more personalized, targeted therapies, ultimately improving outcomes for APL patients.By enabling the identification of previously undetected genomic factors, CENAS has the potential to transform both the diagnosis and management of APL.
Authors
- Patrick Veit‐Haibach (ORCID: https://orcid.org/0000-0002-8607-2667)
- Julia A. Sobotka (ORCID: https://orcid.org/0009-0000-6582-3655)
- Kasmintan A. Schrader (ORCID: https://orcid.org/0000-0002-7413-4314)
- Yvonne Bombard (ORCID: https://orcid.org/0000-0002-9516-4539)
- Teresa Tiano
- Mark Basik (ORCID: https://orcid.org/0000-0002-2633-5410)
- Alicia Tone (ORCID: https://orcid.org/0000-0001-9715-4273)
- Holly Etchegary (ORCID: https://orcid.org/0000-0001-9673-0726)
- Raymond H. Kim (ORCID: https://orcid.org/0000-0002-2147-8674)
- Lesa Dawson (ORCID: https://orcid.org/0000-0002-6879-6602)
- Marc Clausen
- Trevor J. Pugh (ORCID: https://orcid.org/0000-0002-8073-5888)
- Chiquita Hessels
- Angela Hyde
- Aly Karsan (ORCID: https://orcid.org/0000-0001-6753-892X)
- Lynette S. Penney
- Kirsten M. Farncombe (ORCID: https://orcid.org/0000-0001-9413-201X)
- David M. Malkin (ORCID: https://orcid.org/0000-0001-5752-9763)
- Stephanie M. Wong (ORCID: https://orcid.org/0000-0001-9144-7841)
- Andrea Doria (ORCID: https://orcid.org/0000-0002-2355-1468)
- Leslie Born
Institutions
- Dalhousie University (CA)
- Memorial University of Newfoundland (CA)
- ME Association (GB)
- Hospital for Sick Children (CA)
- Women's College Hospital (CA)
- Jewish General Hospital (CA)
- Princess Margaret Cancer Centre (CA)
- St Michael’s Hospital (IE)
- Ovarian Cancer Canada (CA)
- Unity Health Toronto
- McMaster University (CA)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102968
- Primary Topic
- Genetic factors in colorectal cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00