Track: Liquid Biopsies in Early Cancer Detection

Multi-Cancer
Early Detection (MCED) Tests
MCED tests, like GRAIL’s Galleri,
detect multiple cancer types from a single blood sample by analyzing ctDNA
methylation patterns. These tests are designed to catch cancers before symptoms
appear, often when tumors are not yet visible via imaging. In the CCGA study,
Galleri demonstrated the ability to detect over 50 cancer types with a false
positive rate below 1%. MCED tests promise to change the landscape of
population-wide screening, but still require more real-world validation and
integration into clinical guidelines.
ctDNA for Minimal
Residual Disease (MRD) Monitoring
After curative-intent treatment,
recurrence risk remains a concern. ctDNA assays can detect minimal residual
disease (MRD)—small amounts of tumor DNA left in the body—weeks or months
before recurrence appears on imaging. Trials like TRACERx and DYNAMIC
have shown ctDNA to be a reliable MRD marker in lung and colon cancer. In
breast cancer, MRD monitoring could soon guide adjuvant therapy duration and
intensity. This approach enables personalized surveillance and earlier
intervention, potentially improving survival and reducing overtreatment.
Early Breast
Cancer Detection Using ctDNA and CTCs
Liquid biopsies are being explored for
early breast cancer detection, especially in high-risk populations. While
mammography remains the gold standard, ctDNA assays may identify genetic
alterations or copy number variations before radiological signs appear. CTC
detection is another avenue, as shown in studies like STIC CTC, which
demonstrated that CTC count could guide therapy in HR+ breast cancer. While not
yet approved for screening, integrating liquid biopsy into existing diagnostic
pathways may enhance sensitivity, particularly in dense breast tissue.
FDA-Approved Liquid Biopsy Tests and Their Applications
Several liquid biopsy assays are now
FDA-approved. For example, Guardant360 and FoundationOne Liquid CDx
provide genomic profiling for advanced cancers, helping guide targeted
therapies. The Signatera test is approved for MRD detection in
colorectal cancer. These tests are increasingly used in lieu of repeat tissue
biopsies, especially when tumors are inaccessible. Their adoption into NCCN
guidelines and reimbursement policies is growing, making them more feasible for
widespread clinical use across cancer types, including breast, lung, and
prostate.
Advantages Over
Traditional Biopsy Techniques
Traditional tissue biopsies are
invasive, limited to a single tumor site, and may miss heterogeneity. Liquid
biopsies offer a whole-body molecular snapshot, capturing subclonal
mutations and evolving resistance. They can be performed repeatedly,
facilitating dynamic treatment decisions. In metastatic disease, they can
detect emergent mutations like ESR1, HER2, or KRAS, aiding
therapy adjustments. Additionally, liquid biopsies are safer, less painful, and
faster. These advantages make them particularly valuable in early detection,
longitudinal monitoring, and response evaluation.
Limitations and
Challenges of Liquid Biopsies
Despite promise, liquid biopsy has
limitations, including lower sensitivity in early-stage cancers, variability
in ctDNA shedding, and false positives from clonal hematopoiesis.
Standardization of assays and regulatory frameworks are needed. Cost and
insurance coverage also pose challenges to routine adoption. Studies such as
the LUNAR and CIRCULATE programs aim to improve specificity and
validate clinical utility. Addressing these hurdles is critical for integrating
liquid biopsies into standard cancer screening and early diagnostic pathways.
Future Directions
in Liquid Biopsy Research
Ongoing research is focused on
combining multiple analytes (ctDNA + exosomes + proteins) for improved
accuracy, developing ultra-sensitive sequencing platforms, and
integrating AI for pattern recognition. Trials like PREVAIL and DETECT-A
aim to assess the impact of liquid biopsy-based screening on survival.
Cross-disciplinary collaborations are working toward decentralized access
through point-of-care testing. As evidence builds, liquid biopsy is expected to
become a cornerstone of early detection, risk stratification, and precision
oncology.
Scientific Highlights
- Cancer Research
- Cancer Symptoms and Causes
- Types of Cancer
- Screening & Diagnosis for Cancer
- Cancer Biology and Genetics
- Therapies for Cancer Treatment
- Cancer and Oncology Nursing
- Cancer - Clinical trials
- Breast Cancer and Treatments
- HER2-Positive Breast Cancer
- Breast Cancer Surgery
- Breast Cancer During Pregnancy
- Radiology and Oncology
- COVID-19 Impact on Cancer
- Advances in Breast Cancer Immunotherapy
- Liquid Biopsies in Early Cancer Detection
- Robotic-Assisted Breast Cancer Surgery