REFERENCES
1. Society A cancer. Cancer Facts and Figures 2020. Available from: https://www.cancer.org/research/cancer-facts-statistics/all-cancer-facts-figures/cancer-facts-figures-2020.html. [Last accessed on 21 Sep 2020].
2. Colleoni M, Sun Z, Price KN, et al. Annual hazard rates of recurrence for breast cancer during 24 years of follow-up: results from the international breast cancer study group trials I to V. J Clin Oncol 2016;34:927-35.
3. Howlader N, Noone AM, Krapcho M, et al. SEER cancer statistics review, 1975-2016 National Cancer Institute. Bethesda MD. Posted to the SEER web site, April 2019. Available from: https://seer.cancer.gov/csr/1975_2016. [Last accessed on 21 Sep 2020].
4. Cristofanilli M, Budd GT, Ellis MJ, et al. Circulating tumor cells, disease progression, and survival in metastatic breast cancer. N Engl J Med 2004;351:781-91.
5. Bredemeier M, Kasimir-Bauer S, Kolberg HC, et al. Comparison of the PI3KCA pathway in circulating tumor cells and corresponding tumor tissue of patients with metastatic breast cancer. Mol Med Rep 2017;15:2957-68.
6. Huang ZH, Li LH, Hua D. Quantitative analysis of plasma circulating DNA at diagnosis and during follow-up of breast cancer patients. Cancer Lett 2006;243:64-70.
7. Bettegowda C, Sausen M, Leary RJ, et al. Detection of circulating tumor DNA in early- and late-stage human malignancies. Sci Transl Med 2014;6:224ra24.
8. Dawson SJ, Tsui DW, Murtaza M, et al. Analysis of circulating tumor DNA to monitor metastatic breast cancer. N Engl J Med 2013;368:1199-209.
9. Madic J, Kiialainen A, Bidard FC, et al. Circulating tumor DNA and circulating tumor cells in metastatic triple negative breast cancer patients. Int J Cancer 2015;136:2158-65.
10. Rodriguez BJ, Córdoba GD, Aranda AG, et al. Detection of TP53 and PIK3CA Mutations in Circulating Tumor DNA Using Next-Generation Sequencing in the Screening Process for Early Breast Cancer Diagnosis. J Clin Med 2019;8:1183.
11. Alimirzaie S, Bagherzadeh M, Akbari MR. Liquid biopsy in breast cancer: A comprehensive review. Clin Genet 2019;95:643-60.
12. Chen KZ, Lou F, Yang F, et al. Circulating tumor DNA detection in early-stage non-small cell lung cancer patients by targeted sequencing. Sci Rep 2016;6:31985.
13. Zhang XF, Ju SQ, Wang XD, Cong H. Advances in liquid biopsy using circulating tumor cells and circulating cell-free tumor DNA for detection and monitoring of breast cancer. Clin Exp Med 2019;19:271-9.
14. Beaver JA, Jelovac D, Balukrishna S, et al. Detection of cancer DNA in plasma of early stage breast cancer patients. Clin Cancer Res 2014;20:2643-50.
15. Phallen J, Sausen M, Adleff V, et al. Direct detection of early-stage cancers using circulating tumor DNA. Sci Transl Med 2017;9:eaan2415.
16. Cohen JD, Li L, Wang Y, et al. Detection and localization of surgically resectable cancers with a multi-analyte blood test. Science 2018;359:926-30.
17. Salido-Guadarrama I, Romero-Cordoba S, Peralta-Zaragoza O, Hidalgo-Miranda A, Rodríguez-Dorantes M. MicroRNAs transported by exosomes in body fluids as mediators of intercellular communication in cancer. Onco Targets Ther 2014;7:1327-38.
18. Gold B, Cankovic M, Furtado LV, Meier F, Gocke CD. Do circulating tumor cells, exosomes, and circulating tumor nucleic acids have clinical utility? A report of the association for molecular pathology. J Mol Diagn 2015;17:209-24.
19. Shen SY, Singhania R, Fehringer G, et al. Sensitive tumour detection and classification using plasma cell-free DNA methylomes. Nature 2018;563:579-83.
20. Liu M, Oxnard G, Klein E, et al. Sensitive and specific multi-cancer detection and localization using methylation signatures in cell-free DNA. Annals of Oncology 2020;31:745-59.
21. Cristiano S, Leal A, Phallen J, et al. Genome-wide cell-free DNA fragmentation in patients with cancer. Nature 2019;570:385-9.
22. Gerratana L, Davis AA, Shah AN, Lin C, Corvaja C, Cristofanilli M. Emerging Role of Genomics and Cell-Free DNA in Breast Cancer. Curr Treat Options Oncol 2019;20:68.
23. Koboldt DC, Fulton RS, McLellan MD, et al. Comprehensive molecular portraits of human breast tumors. Nature 2013;490:61-70.
24. Silva JM, Silva J, Sanchez A, et al. Tumor DNA in plasma at diagnosis of breast cancer patients is a valuable predictor of disease-free survival. Clin Cancer Res 2002;8:3761-6.
25. Rothé F, Silva MJ, Venet D, et al. Circulating tumor DNA in HER2-amplified breast cancer: a translational research substudy of the NeoALTTO phase III trial. Clin Cancer Res 2019;25:3581-8.
26. Garcia-Murillas I, Schiavon G, Weigelt B, et al. Mutation tracking in circulating tumor DNA predicts relapse in early breast cancer. Sci Transl Med 2015;7:302ra133.
27. Garcia-Murillas I, Chopra N, Comino-Méndez I, et al. Assessment of molecular relapse detection in early-stage breast cancer. JAMA Oncol 2019;5:1473-8.
28. Chen YH, Hancock BA, Solzak JP, et al. Next-generation sequencing of circulating tumor DNA to predict recurrence in triple-negative breast cancer patients with residual disease after neoadjuvant chemotherapy. NPJ Breast Cancer 2017;3:24.
29. Radovich M, Jiang G, Hancock BA, et al. Association of circulating tumor DNA and circulating tumor cells after neoadjuvant chemotherapy with disease recurrence in patients with triple-negative breast cancer: preplanned secondary analysis of the BRE12-158 randomized clinical trial. JAMA Oncol 2020;6:1410-5.
30. Swanton C, Jamal-Hanjani M, Abbosh C, et al. Phylogenetic ctDNA analysis depicts early stage lung cancer evolution. Nature 2017;545:446-51.
31. Coombes RC, Page K, Salari R, et al. Personalized detection of circulating tumor DNA antedates breast cancer metastatic recurrence. Clin Cancer Res 2019;25:4255-63.
32. McDonald BR, Contente-Cuomo T, Sammut SJ, et al. Detection of residual disease after neoadjuvant therapy in breast cancer using personalized circulating tumor DNA analysis. Sci Transl Med 2019;7392:1-14.
33. Krishnamurthy S, Cristofanilli M, Singh B, et al. Detection of minimal residual disease in blood and bone marrow in early stage breast cancer. Cancer 2010;116:3330-7.
34. Tibbe AG, Miller MC, Terstappen LW. Statistical considerations for enumeration of circulating tumor cells. Cytometry A 2007;71:154-62.
35. Xenidis N, Perraki M, Kafousi M, et al. Predictive and prognostic value of peripheral blood cytokeratin-19 mRNA-positive cells detected by real-time polymerase chain reaction in node-negative breast cancer patients. J Clin Oncol 2006;24:3756-62.
36. Rack B, Schindlbeck C, Jückstock J, et al. Circulating tumor cells predict survival in early average-to-high risk breast cancer patients. J Natl Cancer Inst 2014;106:dju066.
37. Pierga JY, Bidard FC, Mathiot C, et al. Circulating tumor cell detection predicts early metastatic relapse after neoadjuvant chemotherapy in large operable and locally advanced breast cancer in a phase II randomized trial. Clin Cancer Res 2008;14:7004-10.
38. Lucci A, Hall CS, Lodhi AK, et al. Circulating tumour cells in non-metastatic breast cancer: a prospective study. The Lancet Oncology 2012;13:688-95.
39. Pierga JY, Petit T, Lévy C, et al. Pathological response and circulating tumor cell count identifies treated HER2+ inflammatory breast cancer patients with excellent prognosis: BEVERLY-2 survival data. Clin Cancer Res 2015;21:1298-304.
40. Pierga JY, Bidard FC, Autret A, et al. Circulating tumour cells and pathological complete response: independent prognostic factors in inflammatory breast cancer in a pooled analysis of two multicentre phase II trials (BEVERLY-1 and -2) of neoadjuvant chemotherapy combined with bevacizumab. Ann Oncol 2017;28:103-9.
41. Riethdorf S, Müller V, Zhang L, et al. Detection and HER2 expression of circulating tumor cells: prospective monitoring in breast cancer patients treated in the neoadjuvant GeparQuattro trial. Clin Cancer Res 2010;16:2634-45.
42. Trapp E, Janni W, Schindlbeck C, et al. Presence of circulating tumor cells in high-risk early breast cancer during follow-up and prognosis. J Natl Cancer Inst 2019;111:380-7.
43. Sparano JA, Henry NL. Surveillance after treatment of localized breast cancer: time for reappraisal? J Natl Cancer Inst 2019;111:339-41.
44. Bidard FC, Mathiot C, Delaloge S, et al. Single circulating tumor cell detection and overall survival in nonmetastatic breast cancer. Ann Oncol 2010;21:729-33.
45. Azim HA Jr, Rothé F, Aura CM, et al. Circulating tumor cells and response to neoadjuvant paclitaxel and HER2-targeted therapy: a sub-study from the NeoALTTO phase III trial. Breast 2013;22:1060-5.
46. Bidard FC, Jacot W, Kiavue N, et al. Efficacy of circulating tumor cell count-driven vs clinician-driven first-line therapy choice in hormone receptor-positive, ERBB2-negative metastatic breast cancer: the STIC CTC randomized clinical trial. JAMA Oncol 2020;5:e205660.
47. Bauer ECA, Schochter F, Widschwendter P, et al. Prevalence of circulating tumor cells in early breast cancer patients 2 and 5 years after adjuvant treatment. Breast Cancer Res Treat 2018;171:571-80.
48. Hall C, Karhade M, Laubacher B, et al. Circulating tumor cells after neoadjuvant chemotherapy in stage I-III triple-negative breast cancer. Ann Surg Oncol 2015;22:S552-8.
49. Janni WJ, Rack B, Terstappen LW, et al. Pooled analysis of the prognostic relevance of circulating tumor cells in primary breast cancer. Clin Cancer Res 2016;22:2583-93.
50. Bidard FC, Michiels S, Riethdorf S, et al. Circulating tumor cells in breast cancer patients treated by neoadjuvant chemotherapy: a meta-analysis. J Natl Cancer Inst 2018;110:560-7.
51. Davis AA, Jacob S, Gerratana L, et al. Abstract P5-01-08: landscape of circulating tumor DNA (ctDNA) in metastatic breast cancer. Cancer Res 2020;80:P5-01-08.
52. Paweletz CP, Lau CJ, Oxnard GR. Does testing error underlie liquid biopsy discordance? JCO Precision Oncology 2019;3:1-3.
53. Gerratana L, Zhang Q, Shah AN, et al. Performance of a novel next generation sequencing circulating tumor DNA (ctDNA) platform for the evaluation of samples from patients with metastatic breast cancer (MBC). Crit Rev Oncol Hematol 2020;145:102856.
54. Serpas L, Chan RWY, Jiang P, et al. Dnase1l3 deletion causes aberrations in length and end-motif frequencies in plasma DNA. Proc Natl Acad Sci U S A 2019;116:641-9.
55. Mouliere F, Chandrananda D, Piskorz AM, et al. Enhanced detection of circulating tumor DNA by fragment size analysis. Sci Transl Med 2018;10:eaat4921.
56. Liu L, Toung JM, Jassowicz AF, et al. Targeted methylation sequencing of plasma cell-free DNA for cancer detection and classification. Ann Oncol 2018;29:1445-53.
57. Gerratana L, Basile D, Franzoni A, et al. Plasma-based longitudinal evaluation of ESR1 epigenetic status in hormone receptor-positive HER2-negative metastatic breast cancer. Front Oncol 2020;10:550185.
58. Maltoni R, Casadio V, Ravaioli S, et al. Cell-free DNA detected by “liquid biopsy” as a potential prognostic biomarker in early breast cancer. Oncotarget 2017;8:16642-9.
59. Yizhak K, Aguet F, Kim J, et al. RNA sequence analysis reveals macroscopic somatic clonal expansion across normal tissues expansion across normal tissues. Science 2019;364:eaaw0726.
60. Hu Y, Ulrich BC, Supplee J, et al. False-positive plasma genotyping due to clonal hematopoiesis. Clin Cancer Res 2018;24:4437-43.
61. Swanton C, Venn O, Aravanis A, et al. Prevalence of clonal hematopoiesis of indeterminate potential (CHIP) measured by an ultra-sensitive sequencing assay: exploratory analysis of the Circulating Cancer Genome Atlas (CCGA) study. J Clin Oncol 2018;36:12003.
62. Heuser M, Thol F, Ganser A. Clonal hematopoiesis of indeterminate potential. Dtsch Arztebl Int 2016;113:317-22.
63. Diehl F, Li M, He YP, Kinzler KW, Vogelstein B, Dressman D. BEAMing: single-molecule PCR on microparticles in water-in-oil emulsions. Nat Methods 2006;3:551-9.
64. Kinde I, Wu J, Papadopoulos N, Kinzler KW, Vogelstein B. Detection and quantification of rare mutations with massively parallel sequencing. Proc Natl Acad Sci U S A 2011;108:9530-5.
65. Forshew T, Murtaza M, Parkinson C, et al. Noninvasive identification and monitoring of cancer mutations by targeted deep sequencing of plasma DNA. Sci Transl Med 2012;4:136ra68.
66. Newman AM, Bratman SV, To J, et al. An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage. Nat Med 2014;20:548-54.
67. Kim AS, Bartley AN, Bridge JA, et al. Comparison of laboratory-developed tests and FDA-approved assays for BRAF, EGFR, and KRAS testing. JAMA Oncol 2018;4:838-41.
68. Gorges TM, Penkalla N, Schalk T, et al. Enumeration and Molecular Characterization of Tumor Cells in Lung Cancer Patients Using a Novel In vivo Device for Capturing Circulating Tumor Cells. Clin Cancer Res 2016;22:2197-206.
69. Hyun KA, Koo GB, Han H, et al. Epithelial-to-mesenchymal transition leads to loss of EpCAM and different physical properties in circulating tumor cells from metastatic breast cancer. Oncotarget 2016;7:24677-87.
70. Yu M, Bardia A, Wittner BS, et al. Circulating breast tumor cells exhibit dynamic changes in epithelial and mesenchymal composition. Science 2013;339:580-4.
71. Raimondi C, Nicolazzo C, Gradilone A. Circulating tumor cells isolation: the “post-EpCAM era”. Chin J Cancer Res 2015;27:461-70.
72. Loeian MS, Mehdi Aghaei S, Farhadi F, et al. Liquid biopsy using the nanotube-CTC-chip: capture of invasive CTCs with high purity using preferential adherence in breast cancer patients. Lab Chip 2019;19:1899-915.
73. Bidard FC, Belin L, Delaloge S, et al. Time-dependent prognostic impact of circulating tumor cells detection in non-metastatic breast cancer: 70-month analysis of the REMAGUS02 study. Int J Breast Cancer 2013;2013:130470.
74. Riethdorf S, Müller V, Loibl S, et al. Prognostic impact of circulating tumor cells for breast cancer patients treated in the neoadjuvant “Geparquattro” trial. Clin Cancer Res 2017;23:5384-93.
75. Goodman CR, Seagle BL, Friedl TWP, et al. Association of circulating tumor cell status with benefit of radiotherapy and survival in early-stage breast cancer. JAMA Oncol 2018;4:e180163.
76. Sparano J, O’Neill A, Alpaugh K, et al. Association of circulating tumor cells with late recurrence of estrogen receptor-positive breast cancer: a secondary analysis of a randomized clinical trial. JAMA Oncol 2018;4:1700-6.
77. Ignatiadis M, Litière S, Rothe F, et al. Trastuzumab versus observation for HER2 nonamplified early breast cancer with circulating tumor cells (EORTC 90091-10093, BIG 1-12, Treat CTC): a randomized phase II trial. Ann Oncol 2018;29:1777-83.