Since the discovery of cell-free DNA (cfDNA) in 1948, shedded DNA fragments have been applied to technologies ranging from pre-natal genetic screening and diagnosis, genomic medicine, cancer susceptibility and tumor dynamics assessments. Circulating tumor DNA (ctDNA) assays are examples of what is currently called a liquid biopsy, in which a sample of peripheral blood from a cancer patient is analyzed with the aim of detecting relevant tumoral information that could help individual clinical management.
More recently ctDNA assays have emerged with the potential to offer higher test sensitivity, allowing early cancer detection, persistence, and recurrence, potentially enabling the development of therapeutic strategies to intercept disease course. In this very rapidly evolving field, this Research Topic aims to review and explore the field of liquid biopsies in breast cancer, with a focus on ctDNA. Articles will explore technical features, similarities, and differences, established evidence and ongoing efforts.
We welcome the submission of original research, reviews, mini-reviews, and perspective manuscripts covering a wide range of areas, including but not limited to:
1. Definitions – evolving science, methods and nomenclature for clinicians
2. High-sensitivity ctDNA assays
3. Pre-analytical considerations, DNA analysis and clinical interpretation 4. ctDNA bioinformatics
5. Sensitivity and specificity considerations; required/desired accuracy for clinical use
6. False positive results, clonal hematopoiesis of indeterminate potential, spontaneous clearance
7. False negative results, limit of detection, circulating quantities, assay method, repeated sampling
8. Test performance vs subtype of breast cancer, disease staging and treatment context.
9. Potential diagnostic applications (screening of general population of or high-risk individuals, prognosis, therapy selection, response to therapy prediction and measurement, detection of minimal residual disease - MRD/on-treatment and post-treatment monitoring)
10. ctDNA and tumor clonal evolution.
11. ctDNA kinetics: systemic therapy (cytotoxic therapy, targeted agents, immunotherapy, endocrine therapy), radiation therapy, surgery 12. ctDNA in systemic vs local breast cancer recurrence
13. ctDNA in benign and in pre-malignant conditions
14. ctDNA in therapeutic clinical trials
15. Quality of life of patients with or without ctDNA testing results
16. Approach to the negative and positive test
17. Regulatory considerations/FDA device clearance through 510(k), de novo classification request, and pre-market submissions.
Please note: Manuscripts consisting solely of bioinformatics, computational analysis, or predictions of public databases which are not accompanied by validation (independent
clinical or patient cohort, or biological validation in vitro or in vivo, which are not based on public databases) are not suitable for publication in this journal.
Since the discovery of cell-free DNA (cfDNA) in 1948, shedded DNA fragments have been applied to technologies ranging from pre-natal genetic screening and diagnosis, genomic medicine, cancer susceptibility and tumor dynamics assessments. Circulating tumor DNA (ctDNA) assays are examples of what is currently called a liquid biopsy, in which a sample of peripheral blood from a cancer patient is analyzed with the aim of detecting relevant tumoral information that could help individual clinical management.
More recently ctDNA assays have emerged with the potential to offer higher test sensitivity, allowing early cancer detection, persistence, and recurrence, potentially enabling the development of therapeutic strategies to intercept disease course. In this very rapidly evolving field, this Research Topic aims to review and explore the field of liquid biopsies in breast cancer, with a focus on ctDNA. Articles will explore technical features, similarities, and differences, established evidence and ongoing efforts.
We welcome the submission of original research, reviews, mini-reviews, and perspective manuscripts covering a wide range of areas, including but not limited to:
1. Definitions – evolving science, methods and nomenclature for clinicians
2. High-sensitivity ctDNA assays
3. Pre-analytical considerations, DNA analysis and clinical interpretation 4. ctDNA bioinformatics
5. Sensitivity and specificity considerations; required/desired accuracy for clinical use
6. False positive results, clonal hematopoiesis of indeterminate potential, spontaneous clearance
7. False negative results, limit of detection, circulating quantities, assay method, repeated sampling
8. Test performance vs subtype of breast cancer, disease staging and treatment context.
9. Potential diagnostic applications (screening of general population of or high-risk individuals, prognosis, therapy selection, response to therapy prediction and measurement, detection of minimal residual disease - MRD/on-treatment and post-treatment monitoring)
10. ctDNA and tumor clonal evolution.
11. ctDNA kinetics: systemic therapy (cytotoxic therapy, targeted agents, immunotherapy, endocrine therapy), radiation therapy, surgery 12. ctDNA in systemic vs local breast cancer recurrence
13. ctDNA in benign and in pre-malignant conditions
14. ctDNA in therapeutic clinical trials
15. Quality of life of patients with or without ctDNA testing results
16. Approach to the negative and positive test
17. Regulatory considerations/FDA device clearance through 510(k), de novo classification request, and pre-market submissions.
Please note: Manuscripts consisting solely of bioinformatics, computational analysis, or predictions of public databases which are not accompanied by validation (independent
clinical or patient cohort, or biological validation in vitro or in vivo, which are not based on public databases) are not suitable for publication in this journal.