ArticleBreast cancer research : BCR2025
Unraveling breast cancer response to neoadjuvant chemotherapy through integrated genomic, transcriptomic, and circulating tumor DNA analysis.
Article in Breast cancer research : BCR, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.
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Who cites it
7 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Prognostic significance of circulating tumor DNA in early breast cancer: a systematic review and meta-analysis.Breast cancer research and treatment · 2026Pooled it
- Evolution of the Use of Circulating DNA as a Biomarker in Neoadjuvant Therapy of Breast Cancer.Current oncology (Toronto, Ont.) · 2026Review
- Decoding 3D chromatin architecture reveals distinct enhancer classes underlying hierarchical gene regulation in prostate cancer.Genome biology · 2026Article
- Artificial intelligence-powered liquid biopsy in cancer: a paradigm shift in cancer detection and personalized care.Cancer cell international · 2026Review
- The mechanisms and therapeutic advances of interactions between breast cancer and cardiovascular diseases.Frontiers in pharmacology · 2026Review
- Liquid Biopsy and Multi-Omic Biomarkers in Breast Cancer: Innovations in Early Detection, Therapy Guidance, and Disease Monitoring.Biomedicines · 2025Review
- Prognostic utility of inflammatory indices and circulating nucleic acids for neoadjuvant chemotherapy outcomes in breast cancer: a systematic review.Therapeutic advances in medical oncology · 2025Review
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Authors and funding
15 authors.
Funding
Abstract
introductionNeoadjuvant chemotherapy (NAC) is a standard treatment for breast cancer (BC) to shrink tumors and facilitate surgery. However, the molecular underpinnings of response to NAC and prognosis have not been well characterized.
methodsWe enrolled 73 stage II/III BC patients who received NAC followed by surgery. Tumor tissue samples were available from 36 patients at baseline and 38 at the time of surgery. Plasma circulating tumor DNA (ctDNA) was collected at three time points: before NAC (n = 63), during NAC (n = 42), and after NAC (n = 40). Comprehensive genomic, transcriptomic, and ctDNA analyses were performed to identify biomarkers associated with pathological complete response (pCR) and survival outcomes.
resultsNine baseline mutations, including DNHD1 and PLEC, along with HIPPO pathway alterations, were associated with pCR. Responsive tumors exhibited immune activation and downregulated PI3K-Akt and AGE-RAGE pathways, while non-pCR tumors showed reduced cytokine and immune receptor activity. Undetectable ctDNA during and after NAC was predictive of treatment efficacy and correlated with improved survival. Baseline mutations in USH2A were associated with shorter disease-free survival (hazard ratio: 11.9; 95% confidence interval: 2.8-50.8; P < 0.001), with a consistent trend observed for overall survival. Elevated NHSL1 expression in baseline tumors indicated an initial treatment response but was later associated with tumor relapse and poor overall survival (P = 0.026 and P = 0.023, respectively), findings that were validated in an independent clinical cohort (N = 30) through immunohistochemistry staining.
conclusionOur comprehensive multi-omics analysis identified promising biomarkers predictive of treatment response and survival in BC patients receiving NAC followed by surgery. These findings underscore the importance of early tumor assessment for improved patient stratification and prognostication.
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