O10: Early detection of BRCA1/2-associated cancers through multi-modal cell-free DNA analysis
Cell-free DNA (cfDNA) fragments are released by a variety of types of cells in the body into the blood (eg, healthy, placental, and cancer cells). Genetic and epigenetic analysis of cfDNA can be used to differentiate cfDNA tissue-of-origin for the early detection of cancer but has not been applied to BRCA1/2 heterozygotes. People who harbor a BRCA1/2 pathogenic variant are at high risk of developing breast, ovarian, prostate, pancreas cancer, and other types of cancer. Early detection in BRCA1/2 carriers includes intensive surveillance with breast imaging and prostate-specific antigen (PSA) test for prostate cancer.
Authors
- Julia A. Sobotka (ORCID: https://orcid.org/0009-0000-6582-3655)
- Derek Wong (ORCID: https://orcid.org/0000-0003-2607-5265)
- Adriana Aguilar‐Mahecha (ORCID: https://orcid.org/0000-0002-1015-4383)
- Stephanie Pederson
- Mark Basik (ORCID: https://orcid.org/0000-0002-2633-5410)
- Lawrence E. Heisler (ORCID: https://orcid.org/0000-0002-1332-1802)
- Bernard Lam (ORCID: https://orcid.org/0000-0002-6437-6491)
- Raymond H. Kim (ORCID: https://orcid.org/0000-0002-2147-8674)
- Jenna Eagles (ORCID: https://orcid.org/0009-0008-3622-597X)
- Ping Luo (ORCID: https://orcid.org/0000-0002-0039-747X)
- Trevor J. Pugh (ORCID: https://orcid.org/0000-0002-8073-5888)
- Leslie E. Oldfield (ORCID: https://orcid.org/0000-0003-1313-5580)
- Kirsten M. Farncombe (ORCID: https://orcid.org/0000-0001-9413-201X)
- Helia Purnaghshband (ORCID: https://orcid.org/0000-0002-7731-1670)
- Erik Ensminger (ORCID: https://orcid.org/0000-0001-5237-5179)
Institutions
- Ontario Institute for Cancer Research (CA)
- University of Toronto (CA)
- Jewish General Hospital (CA)
- Princess Margaret Cancer Centre (CA)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102035
- Citations
- 1
- Primary Topic
- Cancer Genomics and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 0.94