Circulating Cell-Free DNA Methylation Profiling Enables Detection, Distinction, and Estrogen Receptor Status Classification of Advanced Breast Cancer
A simple blood test detecting cancer's DNA fingerprints could help doctors monitor advanced breast cancer without repeated biopsies.
Researchers at Princess Margaret Cancer Centre developed cfDNA methylation signatures from plasma cfMeDIP-seq that accurately detect advanced breast cancer, differentiate it from 10+ other cancer types, and classify estrogen receptor status noninvasively. The tissue-anchored approach was validated in a compendium of 713 samples and offers a minimally invasive alternative to serial tissue biopsies for monitoring metastatic disease.
What the study was
- Study design
- Diagnostic validation study (multi-cohort)
- Population
- Metastatic breast cancer patients; n=79 mBC (ER+/HER2-=45, HER2+=13, TNBC=21) + compendium n=713 spanning >10 cancer types
- Sample size
- 713
- Category
- Early Detection
- Maturity
- Validated
- Journal
- Cancer Research
Why it surfaced
Validated multi-cohort cfDNA methylation framework for metastatic BC detection and molecular subtyping; large external validation compendium; addresses critical clinical gap in serial tissue biopsies for mBC monitoring; Cancer Research, high-impact journal.
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