Application and prospect of liquid biopsy in precision diagnosis and treatment of breast cancer_CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Authors：

LI Zhuoling , YANG Namin , GU Zihao ,  JI Liang

Department of Breast Surgery, The First Affiliated Hospital of Harbin Medical University, Harbin 150007, P. R. China;

Corresponding?author：

JI Liang, Email: jiliang@hrbmu.edu.cn

Keywords：

breast cancer; liquid biopsy; circulating tumor DNA; circulating tumor cell; extracellular vesicle; precision diagnosis and treatment

DOI：

10.7507/1007-9424.202512007

Video：

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Objective To assess the clinical value of liquid biopsy in breast cancer care, with a focus on its potential to complement tissue biopsy in diagnosis, treatment monitoring, and disease management. Method A narrative review of recent literature was performed, examining the biological basis and clinical relevance of key liquid biopsy markers, including circulating tumor DNA (ctDNA), circulating tumor cells, and extracellular vesicles, in the context of breast cancer. Results Among the markers reviewed, ctDNA can non-invasively detect mutations in key genes, such as ESR1, PIK3CA, HER2, and BRCA1/2, with results that are largely consistent with those from tissue samples. In addition to mutation testing, ctDNA can be measured repeatedly over time, making it useful for early screening, monitoring of high-risk individuals, efficacy evaluation, evolution of drug-resistant clones, and monitoring of minimal residual disease. Circulating tumor cells count and phenotypic analysis provide prognostic information regarding recurrence risk and survival, and single cell analysis helps reveal tumor spatiotemporal heterogeneity. Extracellular vesicles carry nucleic acids and proteins of tumor origin and have shown potential value in early diagnosis and disease monitoring. Liquid biopsy has shown clinical value in the diagnosis of advanced breast cancer, including cases with central nervous system involvement. However, current limitations in detection sensitivity and specificity, combined with the lack of standardized testing procedures, continue to restrict its clinical use. As a result, tissue biopsy remains the gold standard for initial pathological diagnosis and molecular classification. Conclusions Liquid biopsy and tissue biopsy have different but complementary roles in breast cancer care. Tissue biopsy remains the basis for diagnosis and molecular subtyping, while liquid biopsy is more suitable for continuous monitoring and molecular stratified guidance over the course of disease. With advances in detection methods, combined use of multiple markers, improved standardization, and the integration of artificial intelligence for multi-omics data analysis, liquid biopsy holds promise for advancing more personalized and dynamic management for breast cancer patients.

1.	Filho AM, Laversanne M, Ferlay J, et al. The GLOBOCAN 2022 cancer estimates: data sources, methods, and a snapshot of the cancer burden worldwide. Int J Cancer, 2025, 156(7): 1336-1346.
2.	鄔昊, 呂青. 全球及中國乳腺癌的流行病學趨勢及防控啟示: 2018–2022年《全球癌癥統計報告》解讀. 中國普外基礎與臨床雜志, 2024, 31(7): 796-802.
3.	Kim YJ, Rho WY, Park SM, et al. Optical nanomaterial-based detection of biomarkers in liquid biopsy. J Hematol Oncol, 2024, 17(1): 10. doi: 10.1186/s13045-024-01531-y.
4.	Vasilevska Nikodinovska V, Ivanoski S, Kostadinova-Kunovska S, et al. Ultrasound-guided biopsy of musculoskeletal soft-tissue tumors: basic principles, usefulness and limitations. J Ultrason, 2022, 22(89): 109-116.
5.	Chen M, Zhao H. Next-generation sequencing in liquid biopsy: cancer screening and early detection. Hum Genomics, 2019, 13(1): 34. doi: 10.1186/s40246-019-0220-8.
6.	Freitas AJA, Causin RL, Varuzza MB, et al. Liquid biopsy as a tool for the diagnosis, treatment, and monitoring of breast cancer. Int J Mol Sci, 2022, 23(17): 9952. doi: 10.3390/IJMS23179952.
7.	Tao XY, Li QQ, Zeng Y. Clinical application of liquid biopsy in colorectal cancer: detection, prediction, and treatment monitoring. Mol Cancer, 2024, 23(1): 145. doi: 10.1186/S12943-024-02063-2.
8.	Ren F, Fei Q, Qiu K, et al. Liquid biopsy techniques and lung cancer: diagnosis, monitoring and evaluation. J Exp Clin Cancer Res, 2024, 43(1): 96. doi: 10.1186/S13046-024-03026-7.
9.	Ma S, Zhou M, Xu Y, et al. Clinical application and detection techniques of liquid biopsy in gastric cancer. Mol Cancer, 2023, 22(1): 7. doi: 10.1186/S12943-023-01715-Z.
10.	Wang K, Wang X, Pan Q, et al. Liquid biopsy techniques and pancreatic cancer: diagnosis, monitoring, and evaluation. Mol Cancer, 2023, 22(1): 167. doi: 10.1186/S12943-023-01870-3.
11.	Campos-Carrillo A, Weitzel JN, Sahoo P, et al. Circulating tumor DNA as an early cancer detection tool. Pharmacol Ther, 2020, 207: 107458. doi: 10.1016/j.pharmthera.2019.107458.
12.	Malik S, Zaheer S. The impact of liquid biopsy in breast cancer: redefining the landscape of non-invasive precision oncology. J Liq Biopsy, 2025, 8: 100299. doi: 10.1016/J.JLB.2025.100299.
13.	Kingston B, Cutts RJ, Bye H, et al. Genomic profile of advanced breast cancer in circulating tumour DNA. Nat Commun, 2021, 12(1): 2423. doi: 10.1038/s41467-021-22605-2.
14.	Gerratana L, Davis AA, Polano M, et al. Understanding the organ tropism of metastatic breast cancer through the combination of liquid biopsy tools. Eur J Cancer, 2021, 143: 147-157.
15.	Bidard CF, Callens C, Dalenc F, et al. Prognostic impact of ESR1 mutations in ER⁺ HER2^– MBC patients prior treated with first line AI and palbociclib: an exploratory analysis of the PADA-1 trial. J Clin Oncol, 2020, 38(15): 1010. doi: 10.1200/jco.2020.38.15_suppl.1010.
16.	Burstein HJ, DeMichele A, Somerfield MR, et al. Testing for ESR1 mutations to guide therapy for hormone receptor-positive, human epidermal growth factor receptor 2-negative metastatic breast cancer: ASCO guideline rapid recommendation update. J Clin Oncol, 2023, 41(18): 3423-3425.
17.	Martínez-Sáez O, Chic N, Pascual T, et al. Frequency and spectrum of PIK3CA somatic mutations in breast cancer. Breast Cancer Res, 2020, 22(1): 45. doi: 10.1186/s13058-020-01284-9.
18.	Mosele F, Stefanovska B, Lusque A, et al. Outcome and molecular landscape of patients with PIK3CA-mutated metastatic breast cancer. Ann Oncol, 2020, 31(3): 377-386.
19.	Zhou Y, Wang C, Zhu H, et al. Diagnostic accuracy of PIK3CA mutation detection by circulating free DNA in breast cancer: a meta-analysis of diagnostic test accuracy. PLoS One, 2016, 11(6): e0158143. doi: 10.1371/journal.pone.0158143.
20.	Fillbrunn M, Signorovitch J, André F, et al. PIK3CA mutation status, progression and survival in advanced HR⁺ /HER2^– breast cancer: a meta-analysis of published clinical trials. BMC Cancer, 2022, 22(1): 1002. doi: 10.1186/S12885-022-10078-5.
21.	Juric D, Ciruelos E, Rubovszky G, et al. Abstract GS3-08: alpelisib+ fulvestrant for advanced breast cancer: subgroup analyses from the phase Ⅲ SOLAR-1 trial. Cancer Research, 2019, 79(4_Supplement): GS3-08-GS3-08. doi: 10.1158/1538-7445.sabcs18-gs3-08.
22.	Wedam S, Narayan P, Gittleman H, et al. US food and drug administration approval summary: inavolisib with palbociclib and fulvestrant for endocrine-resistant, PIK3CA-mutated, hormone receptor-positive, human epidermal growth factor receptor 2-negative, locally advanced or metastatic breast cancer. J Clin Oncol, 2025, 43(28): 3123-3131.
23.	中國臨床腫瘤學會指南工作委員會組織. 中國臨床腫瘤學會 (CSCO) 乳腺癌診療指南-2025. 北京: 人民衛生出版社, 2025: 111-112.
24.	Li J, Liu Y, Wang S, et al. Chinese expert consensus on clinical diagnosis and treatment of breast cancer targeting HER2. Transl Breast Cancer Res, 2025, 6: 21. doi: 10.21037/tbcr-25-34.
25.	Niikura N, Tomotaki A, Miyata H, et al. Changes in tumor expression of HER2 and hormone receptors status after neoadjuvant chemotherapy in 21 755 patients from the Japanese breast cancer registry. Ann Oncol, 2016, 27(3): 480-487.
26.	Gradishar WJ, Moran MS, Abraham J, et al. NCCN guidelines^? insights: breast cancer, version 4. 2023. J Natl Compr Canc Netw, 2023, 21(6): 594-608.
27.	Godoy-Ortiz A, Alba-Bernal A, Pascual J, et al. Unveiling the potential of liquid biopsy in HER2-positive breast cancer management. Cancers (Basel), 2022, 14(3): 587. doi: 10.3390/CANCERS14030587.
28.	Ciriaco N, Zamora E, Escrivá-de-Romaní S, et al. Clearance of ctDNA in triple-negative and HER2-positive breast cancer patients during neoadjuvant treatment is correlated with pathologic complete response. Ther Adv Med Oncol, 2022, 14: 17588359221139601. doi: 10.1177/17588359221139601.
29.	Antoniou A, Pharoah PD, Narod S, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet, 2003, 72(5): 1117-1130.
30.	王紅霞, 殷詠梅, 胡夕春. 中國乳腺癌患者BRCA1/2基因檢測與臨床應用專家共識 (2025年版). 中國癌癥雜志, 2025, 35(7): 710-734.
31.	Pascual J, Attard G, Bidard FC, et al. ESMO recommendations on the use of circulating tumour DNA assays for patients with cancer: a report from the ESMO Precision Medicine Working Group. Ann Oncol, 2022, 33(8): 750-768.
32.	Yoon JK, Ahn J, Kim S, et al. Efficacy of olaparib in treatment-refractory, metastatic breast cancer with uncommon somatic BRCA mutations detected in circulating tumor DNA. Cancer Res Treat, 2023, 55(3): 1048-1052.
33.	Bedrosian I, Somerfield MR, Achatz MI, et al. Germline testing in patients with breast cancer: ASCO-society of surgical oncology guideline. J Clin Oncol, 2024, 42(5): 584-604.
34.	Arimura A, Sakai K, Kaneshiro K, et al. TP53 and/or BRCA1 mutations based on ctDNA analysis as prognostic biomarkers for primary triple-negative breast cancer. Cancers (Basel), 2024, 16(6): 1184. doi: 10.3390/cancers16061184.
35.	Deng Z, Wu S, Wang Y, et al. Circulating tumor cell isolation for cancer diagnosis and prognosis. EBioMedicine, 2022, 83: 104237. doi: 10.1016/J.EBIOM.2022.104237.
36.	Martin M, Brase JC, Calvo L, et al. Clinical validation of the EndoPredict test in node-positive, chemotherapy-treated ER⁺/HER2^– breast cancer patients: results from the GEICAM 9906 trial. Breast Cancer Res, 2014, 16(2): R38. doi: 10.1186/bcr3642.
37.	Popa MT, Nodi?i A, Pelea?? TM, et al. Breast cancer: a heterogeneous pathology. prognostic and predictive factors—a narrative review. Chirurgia (Bucur), 2025, 120(1): 32-47.
38.	Shaw JA, Guttery DS, Hills A, et al. Mutation analysis of cell-free DNA and single circulating tumor cells in metastatic breast cancer patients with high circulating tumor cell counts. Clin Cancer Res, 2017, 23(1): 88-96.
39.	Liu X, Li J, Cadilha BL, et al. Epithelial-type systemic breast carcinoma cells with a restricted mesenchymal transition are a major source of metastasis. Sci Adv, 2019, 5(6): eaav4275. doi: 10.1126/sciadv.aav4275.
40.	Wang X, Wang L, Lin H, et al. Research progress of CTC, ctDNA, and EVs in cancer liquid biopsy. Front Oncol, 2024, 14: 1303335. doi: 10.3389/FONC.2024.1303335.
41.	Théry C, Zitvogel L, Amigorena S. Exosomes: composition, biogenesis and function. Nat Rev Immunol, 2002, 2(8): 569-579.
42.	Lone SN, Nisar S, Masoodi T, et al. Liquid biopsy: a step closer to transform diagnosis, prognosis and future of cancer treatments. Mol Cancer, 2022, 21(1): 79. doi: 10.1186/S12943-022-01543-7.
43.	Chang WH, Cerione RA, Antonyak MA. Extracellular vesicles and their roles in cancer progression. Methods Mol Biol, 2021, 2174: 143-170.
44.	Zhong G, Wang K, Li J, et al. Determination of serum exosomal H19 as a noninvasive biomarker for breast cancer diagnosis. Onco Targets Ther, 2020, 13: 2563-2571.
45.	Magbanua MJM, Brown Swigart L, Ahmed Z, et al. Clinical significance and biology of circulating tumor DNA in high-risk early-stage HER2-negative breast cancer receiving neoadjuvant chemotherapy. Cancer Cell, 2023, 41(6): 1091-1102.
46.	Parsons HA, Blewett T, Chu X, et al. Circulating tumor DNA association with residual cancer burden after neoadjuvant chemotherapy in triple-negative breast cancer in TBCRC 030. Ann Oncol, 2023, 34(10): 899-906.
47.	Bidard FC, Kaklamani VG, Neven P, et al. Elacestrant (oral selective estrogen receptor degrader) versus standard endocrine therapy for estrogen receptor-positive, human epidermal growth factor receptor 2-negative advanced breast cancer: results from the randomized phase Ⅲ EMERALD trial. J Clin Oncol, 2022, 40(28): 3246-3256.
48.	Bratman SV, Yang SYC, Iafolla MAJ, et al. Personalized circulating tumor DNA analysis as a predictive biomarker in solid tumor patients treated with pembrolizumab. Nat Cancer, 2020, 1(9): 873-881.
49.	Tamkovich S, Tupikin A, Kozyakov A, et al. Size and methylation index of cell-free and cell-surface-bound DNA in blood of breast cancer patients in the contest of liquid biopsy. Int J Mol Sci, 2022, 23(16): 8919. doi: 10.3390/IJMS23168919.
50.	Nagayama S, Low SK, Kiyotani K, et al. Precision medicine for colorectal cancer with liquid biopsy and immunotherapy. Cancers (Basel), 2021, 13(19): 4803. doi: 10.3390/CANCERS13194803.
51.	Parikh AR, Mojtahed A, Schneider JL, et al. Serial ctDNA monitoring to predict response to systemic therapy in metastatic gastrointestinal cancers. Clin Cancer Res, 2020, 26(8): 1877-1885.
52.	Tancredi R, Sobhani N, Catalano M, et al. Current trends in liquid biopsy tracking resistance in molecular breast cancer-targeted therapies. Genes (Basel), 2025, 16(4): 443. doi: 10.3390/GENES16040443.
53.	Wooster M, McGuinness JE, Fenn KM, et al. Diagnosis of leptomeningeal metastasis in women with breast cancer through identification of tumor cells in cerebrospinal fluid using the CNSide^TM assay. Clin Breast Cancer, 2022, 22(4): e457-e462.
54.	Amanda F, Marjan I, Adam M, et al. Data from assessing CSF ctDNA to improve diagnostic accuracy and therapeutic monitoring in breast cancer leptomeningeal metastasis. Am Asso Cancer Res, 2023. doi: 10.1158/1078-0432.c.6532266.
55.	Ignatiadis M, Sledge GW, Jeffrey SS. Liquid biopsy enters the clinic-implementation issues and future challenges. Nat Rev Clin Oncol, 2021, 18(5): 297-312.

1. Filho AM, Laversanne M, Ferlay J, et al. The GLOBOCAN 2022 cancer estimates: data sources, methods, and a snapshot of the cancer burden worldwide. Int J Cancer, 2025, 156(7): 1336-1346.
2. 鄔昊, 呂青. 全球及中國乳腺癌的流行病學趨勢及防控啟示: 2018–2022年《全球癌癥統計報告》解讀. 中國普外基礎與臨床雜志, 2024, 31(7): 796-802.
3. Kim YJ, Rho WY, Park SM, et al. Optical nanomaterial-based detection of biomarkers in liquid biopsy. J Hematol Oncol, 2024, 17(1): 10. doi: 10.1186/s13045-024-01531-y.
4. Vasilevska Nikodinovska V, Ivanoski S, Kostadinova-Kunovska S, et al. Ultrasound-guided biopsy of musculoskeletal soft-tissue tumors: basic principles, usefulness and limitations. J Ultrason, 2022, 22(89): 109-116.
5. Chen M, Zhao H. Next-generation sequencing in liquid biopsy: cancer screening and early detection. Hum Genomics, 2019, 13(1): 34. doi: 10.1186/s40246-019-0220-8.
6. Freitas AJA, Causin RL, Varuzza MB, et al. Liquid biopsy as a tool for the diagnosis, treatment, and monitoring of breast cancer. Int J Mol Sci, 2022, 23(17): 9952. doi: 10.3390/IJMS23179952.
7. Tao XY, Li QQ, Zeng Y. Clinical application of liquid biopsy in colorectal cancer: detection, prediction, and treatment monitoring. Mol Cancer, 2024, 23(1): 145. doi: 10.1186/S12943-024-02063-2.
8. Ren F, Fei Q, Qiu K, et al. Liquid biopsy techniques and lung cancer: diagnosis, monitoring and evaluation. J Exp Clin Cancer Res, 2024, 43(1): 96. doi: 10.1186/S13046-024-03026-7.
9. Ma S, Zhou M, Xu Y, et al. Clinical application and detection techniques of liquid biopsy in gastric cancer. Mol Cancer, 2023, 22(1): 7. doi: 10.1186/S12943-023-01715-Z.
10. Wang K, Wang X, Pan Q, et al. Liquid biopsy techniques and pancreatic cancer: diagnosis, monitoring, and evaluation. Mol Cancer, 2023, 22(1): 167. doi: 10.1186/S12943-023-01870-3.
11. Campos-Carrillo A, Weitzel JN, Sahoo P, et al. Circulating tumor DNA as an early cancer detection tool. Pharmacol Ther, 2020, 207: 107458. doi: 10.1016/j.pharmthera.2019.107458.
12. Malik S, Zaheer S. The impact of liquid biopsy in breast cancer: redefining the landscape of non-invasive precision oncology. J Liq Biopsy, 2025, 8: 100299. doi: 10.1016/J.JLB.2025.100299.
13. Kingston B, Cutts RJ, Bye H, et al. Genomic profile of advanced breast cancer in circulating tumour DNA. Nat Commun, 2021, 12(1): 2423. doi: 10.1038/s41467-021-22605-2.
14. Gerratana L, Davis AA, Polano M, et al. Understanding the organ tropism of metastatic breast cancer through the combination of liquid biopsy tools. Eur J Cancer, 2021, 143: 147-157.
15. Bidard CF, Callens C, Dalenc F, et al. Prognostic impact of ESR1 mutations in ER⁺ HER2^– MBC patients prior treated with first line AI and palbociclib: an exploratory analysis of the PADA-1 trial. J Clin Oncol, 2020, 38(15): 1010. doi: 10.1200/jco.2020.38.15_suppl.1010.
16. Burstein HJ, DeMichele A, Somerfield MR, et al. Testing for ESR1 mutations to guide therapy for hormone receptor-positive, human epidermal growth factor receptor 2-negative metastatic breast cancer: ASCO guideline rapid recommendation update. J Clin Oncol, 2023, 41(18): 3423-3425.
17. Martínez-Sáez O, Chic N, Pascual T, et al. Frequency and spectrum of PIK3CA somatic mutations in breast cancer. Breast Cancer Res, 2020, 22(1): 45. doi: 10.1186/s13058-020-01284-9.
18. Mosele F, Stefanovska B, Lusque A, et al. Outcome and molecular landscape of patients with PIK3CA-mutated metastatic breast cancer. Ann Oncol, 2020, 31(3): 377-386.
19. Zhou Y, Wang C, Zhu H, et al. Diagnostic accuracy of PIK3CA mutation detection by circulating free DNA in breast cancer: a meta-analysis of diagnostic test accuracy. PLoS One, 2016, 11(6): e0158143. doi: 10.1371/journal.pone.0158143.
20. Fillbrunn M, Signorovitch J, André F, et al. PIK3CA mutation status, progression and survival in advanced HR⁺ /HER2^– breast cancer: a meta-analysis of published clinical trials. BMC Cancer, 2022, 22(1): 1002. doi: 10.1186/S12885-022-10078-5.
21. Juric D, Ciruelos E, Rubovszky G, et al. Abstract GS3-08: alpelisib+ fulvestrant for advanced breast cancer: subgroup analyses from the phase Ⅲ SOLAR-1 trial. Cancer Research, 2019, 79(4_Supplement): GS3-08-GS3-08. doi: 10.1158/1538-7445.sabcs18-gs3-08.
22. Wedam S, Narayan P, Gittleman H, et al. US food and drug administration approval summary: inavolisib with palbociclib and fulvestrant for endocrine-resistant, PIK3CA-mutated, hormone receptor-positive, human epidermal growth factor receptor 2-negative, locally advanced or metastatic breast cancer. J Clin Oncol, 2025, 43(28): 3123-3131.
23. 中國臨床腫瘤學會指南工作委員會組織. 中國臨床腫瘤學會 (CSCO) 乳腺癌診療指南-2025. 北京: 人民衛生出版社, 2025: 111-112.
24. Li J, Liu Y, Wang S, et al. Chinese expert consensus on clinical diagnosis and treatment of breast cancer targeting HER2. Transl Breast Cancer Res, 2025, 6: 21. doi: 10.21037/tbcr-25-34.
25. Niikura N, Tomotaki A, Miyata H, et al. Changes in tumor expression of HER2 and hormone receptors status after neoadjuvant chemotherapy in 21 755 patients from the Japanese breast cancer registry. Ann Oncol, 2016, 27(3): 480-487.
26. Gradishar WJ, Moran MS, Abraham J, et al. NCCN guidelines^? insights: breast cancer, version 4. 2023. J Natl Compr Canc Netw, 2023, 21(6): 594-608.
27. Godoy-Ortiz A, Alba-Bernal A, Pascual J, et al. Unveiling the potential of liquid biopsy in HER2-positive breast cancer management. Cancers (Basel), 2022, 14(3): 587. doi: 10.3390/CANCERS14030587.
28. Ciriaco N, Zamora E, Escrivá-de-Romaní S, et al. Clearance of ctDNA in triple-negative and HER2-positive breast cancer patients during neoadjuvant treatment is correlated with pathologic complete response. Ther Adv Med Oncol, 2022, 14: 17588359221139601. doi: 10.1177/17588359221139601.
29. Antoniou A, Pharoah PD, Narod S, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet, 2003, 72(5): 1117-1130.
30. 王紅霞, 殷詠梅, 胡夕春. 中國乳腺癌患者BRCA1/2基因檢測與臨床應用專家共識 (2025年版). 中國癌癥雜志, 2025, 35(7): 710-734.
31. Pascual J, Attard G, Bidard FC, et al. ESMO recommendations on the use of circulating tumour DNA assays for patients with cancer: a report from the ESMO Precision Medicine Working Group. Ann Oncol, 2022, 33(8): 750-768.
32. Yoon JK, Ahn J, Kim S, et al. Efficacy of olaparib in treatment-refractory, metastatic breast cancer with uncommon somatic BRCA mutations detected in circulating tumor DNA. Cancer Res Treat, 2023, 55(3): 1048-1052.
33. Bedrosian I, Somerfield MR, Achatz MI, et al. Germline testing in patients with breast cancer: ASCO-society of surgical oncology guideline. J Clin Oncol, 2024, 42(5): 584-604.
34. Arimura A, Sakai K, Kaneshiro K, et al. TP53 and/or BRCA1 mutations based on ctDNA analysis as prognostic biomarkers for primary triple-negative breast cancer. Cancers (Basel), 2024, 16(6): 1184. doi: 10.3390/cancers16061184.
35. Deng Z, Wu S, Wang Y, et al. Circulating tumor cell isolation for cancer diagnosis and prognosis. EBioMedicine, 2022, 83: 104237. doi: 10.1016/J.EBIOM.2022.104237.
36. Martin M, Brase JC, Calvo L, et al. Clinical validation of the EndoPredict test in node-positive, chemotherapy-treated ER⁺/HER2^– breast cancer patients: results from the GEICAM 9906 trial. Breast Cancer Res, 2014, 16(2): R38. doi: 10.1186/bcr3642.
37. Popa MT, Nodi?i A, Pelea?? TM, et al. Breast cancer: a heterogeneous pathology. prognostic and predictive factors—a narrative review. Chirurgia (Bucur), 2025, 120(1): 32-47.
38. Shaw JA, Guttery DS, Hills A, et al. Mutation analysis of cell-free DNA and single circulating tumor cells in metastatic breast cancer patients with high circulating tumor cell counts. Clin Cancer Res, 2017, 23(1): 88-96.
39. Liu X, Li J, Cadilha BL, et al. Epithelial-type systemic breast carcinoma cells with a restricted mesenchymal transition are a major source of metastasis. Sci Adv, 2019, 5(6): eaav4275. doi: 10.1126/sciadv.aav4275.
40. Wang X, Wang L, Lin H, et al. Research progress of CTC, ctDNA, and EVs in cancer liquid biopsy. Front Oncol, 2024, 14: 1303335. doi: 10.3389/FONC.2024.1303335.
41. Théry C, Zitvogel L, Amigorena S. Exosomes: composition, biogenesis and function. Nat Rev Immunol, 2002, 2(8): 569-579.
42. Lone SN, Nisar S, Masoodi T, et al. Liquid biopsy: a step closer to transform diagnosis, prognosis and future of cancer treatments. Mol Cancer, 2022, 21(1): 79. doi: 10.1186/S12943-022-01543-7.
43. Chang WH, Cerione RA, Antonyak MA. Extracellular vesicles and their roles in cancer progression. Methods Mol Biol, 2021, 2174: 143-170.
44. Zhong G, Wang K, Li J, et al. Determination of serum exosomal H19 as a noninvasive biomarker for breast cancer diagnosis. Onco Targets Ther, 2020, 13: 2563-2571.
45. Magbanua MJM, Brown Swigart L, Ahmed Z, et al. Clinical significance and biology of circulating tumor DNA in high-risk early-stage HER2-negative breast cancer receiving neoadjuvant chemotherapy. Cancer Cell, 2023, 41(6): 1091-1102.
46. Parsons HA, Blewett T, Chu X, et al. Circulating tumor DNA association with residual cancer burden after neoadjuvant chemotherapy in triple-negative breast cancer in TBCRC 030. Ann Oncol, 2023, 34(10): 899-906.
47. Bidard FC, Kaklamani VG, Neven P, et al. Elacestrant (oral selective estrogen receptor degrader) versus standard endocrine therapy for estrogen receptor-positive, human epidermal growth factor receptor 2-negative advanced breast cancer: results from the randomized phase Ⅲ EMERALD trial. J Clin Oncol, 2022, 40(28): 3246-3256.
48. Bratman SV, Yang SYC, Iafolla MAJ, et al. Personalized circulating tumor DNA analysis as a predictive biomarker in solid tumor patients treated with pembrolizumab. Nat Cancer, 2020, 1(9): 873-881.
49. Tamkovich S, Tupikin A, Kozyakov A, et al. Size and methylation index of cell-free and cell-surface-bound DNA in blood of breast cancer patients in the contest of liquid biopsy. Int J Mol Sci, 2022, 23(16): 8919. doi: 10.3390/IJMS23168919.
50. Nagayama S, Low SK, Kiyotani K, et al. Precision medicine for colorectal cancer with liquid biopsy and immunotherapy. Cancers (Basel), 2021, 13(19): 4803. doi: 10.3390/CANCERS13194803.
51. Parikh AR, Mojtahed A, Schneider JL, et al. Serial ctDNA monitoring to predict response to systemic therapy in metastatic gastrointestinal cancers. Clin Cancer Res, 2020, 26(8): 1877-1885.
52. Tancredi R, Sobhani N, Catalano M, et al. Current trends in liquid biopsy tracking resistance in molecular breast cancer-targeted therapies. Genes (Basel), 2025, 16(4): 443. doi: 10.3390/GENES16040443.
53. Wooster M, McGuinness JE, Fenn KM, et al. Diagnosis of leptomeningeal metastasis in women with breast cancer through identification of tumor cells in cerebrospinal fluid using the CNSide^TM assay. Clin Breast Cancer, 2022, 22(4): e457-e462.
54. Amanda F, Marjan I, Adam M, et al. Data from assessing CSF ctDNA to improve diagnostic accuracy and therapeutic monitoring in breast cancer leptomeningeal metastasis. Am Asso Cancer Res, 2023. doi: 10.1158/1078-0432.c.6532266.
55. Ignatiadis M, Sledge GW, Jeffrey SS. Liquid biopsy enters the clinic-implementation issues and future challenges. Nat Rev Clin Oncol, 2021, 18(5): 297-312.

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