Abstract:Breast cancer is one of the most common malignant tumors in women and the leading cause of death from cancer. Tumor cell DNA is continuously released into the blood during the development of tumor. These circulating tumor DNA (ctDNA) carry the information of tumor-related gene mutation, making it a potential cancer biomarker. As a kind of liquid biopsy, ctDNA detection is simple and easy, and can dynamically monitor tumor progression and treatment response with minimally invasive methods. It has been widely studied in the field of breast cancer, and has potential clinical application value in the aspects of disease efficacy monitoring, drug resistance identification, recurrence prediction and prognosis judgment.
郝帅 田武国 高博 何渝军 罗东林. 循环肿瘤DNA在乳腺癌治疗中的应用进展[J]. 中国医药导报, 2019, 16(21): 43-46.
HAO Shuai TIAN Wuguo GAO Bo HE Yujun LUO Donglin. Application Progress of circulating tumor DNA in the treatment of breast cancer. 中国医药导报, 2019, 16(21): 43-46.
[1] Mandel P,Métais P. Les acides nucléiques du plasma sanguin chez l′homme [J]. CR Acad Sci Paris,1948,142:241-243.
[2] Leon SA,Shapiro B,Sklaroff DM,et al. Free DNA in the serum of cancer patients and the effect of therapy [J]. Cancer Res,1977,37(3):646-650.
[3] Shapiro B,Chakrabarty M,Cohn EM,et al. Determination of circulating DNA levels in patients with benign or malignant gastrointestinal disease [J]. Cancer,1983,51(11):2116-2120.
[4] Batth IS,Mitra A,Manier S,et al. Circulating tumor markers:harmonizing the yin and yang of CTCs and ctDNA for precision medicine [J]. Ann Oncol,2017,28(3):468-477.
[5] Martin HD,Sebastian B,Thomas K,et al. ctDNA and ctcs in liquid biopsy-current status and where we need to prog-ress [J]. Comput Struct Biotechnol J,2018,16:190-195.
[6] Ulz P,Heizer E,Geigl JB,et al. Patient monitoring through liquid biopsies using circulating tumor DNA [J]. Int J Cancer,2017,141(5):887-896.
[7] Pos O,Brio O,Szemes T,et al. Circulating cell-free nucleic acids:characteristics and applications [J]. Eur J Hum Genet,2018,26(7):937-945.
[8] De Mattos-Arruda L,Caldas C. Cell-free circulating tumour DNA as a liquid biopsy in breast cancer [J]. Mol Oncol,2016,10(3):464-474.
[9] Sorenson GD,Pribish DM,Valone FH,et al. Soluble normal and mutated DNA sequences from singlecopy genes in human blood [J]. Cancer Epidemiol Biomarkers Prev,1994,3(1):67-71.
[10] Goh JY,Feng M,Wang W,et al. Chromosome 1q21.3 amplification is a trackable biomarker and actionable target for breast cancer recurrence [J]. Nat Med,2017,23(11):1319-1330.
[11] Garcia-Foncillas J,Alba E,Aranda E,et al. Incorporating BEAMing technology as a liquid biopsy into clinical practice for the management of colorectal cancer patients:an expert taskforce review [J]. Ann Oncol,2017, 28(12):2943-2949.
[12] Zhang YC,Zhou Q,Wu YL. The emerging roles of NGS-based liquid biopsy in non-small cell lung cancer [J]. J Hematol Oncol,2017,10:167.
[13] Chicard M,Colmet DL,Clement N,et al. Whole-exome sequencing of cell-free DNA reveals temporo-spatial heterogeneity and identifies treatment-resistant clones in neuroblastoma [J]. Clin Cancer Res,2018,24(4):939-949.
[14] Manier S,Park J,Capelletti M,et al. Whole-exome sequencing of cell-free DNA and circulating tumor cells in multiple myeloma [J]. Nat Commun,2018,9(1):1691.
[15] Newman AM,Bratman SV,To J,et al. An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage [J]. Nat Med,2014,20(5):548-554.
[16] Gorgannezhad L,Umer M,Islam MN,et al. Circulating tumor DNA and liquid biopsy:opportunities,challenges,and recent advances in detection technologies [J]. Lab Chip,2018,18(8):1174-1196.
[17] Rohanizadegan M. Analysis of circulating tumor DNA in breast cancer as a diagnostic and prognostic biomarker [J].Cancer Genet,2018,228-229:159-168.
[18] Panabieres CA,Pantel K. Clinical applications of circulating tumor cells and circulating tumor DNA as liquid biopsy [J]. Cancer Discov,2016,6(5):479-491.
[19] De Rubis G,Krishnan SR,Bebawy M.Circulating tumor DNA Current state of play and future perspectives [J]. Pharmacol Res,2018,136:35-44.
[20] Diehl F,Schmidt K,Choti MA,et al. Circulating mutant DNA to assess tumor dynamics [J]. Nat Med,2008,14(9):985-990.
[21] Dawson SJ,Tsui DW,Murtaza M,et al. Analysis of circulating tumor DNA to monitor metastatic breast cancer [J]. N Engl J Med,2013,368(13):1199-1209.
[22] Riva F,Bidard FC,Houy A,et al. Patient-specific circulating tumor DNA detection during neoadjuvant chemotherapy in triple-negative breast cancer [J]. Clin Chem,2017,63(3):691-699.
[23] Takahashi H,Kagara N,Tanei T,et al. Correlation of methylated circulating tumor DNA with response to neoadjuvant chemotherapy in breast cancer patients [J]. Clin Breast Cancer,2017,17(1):61-69.
[24] Fiegl H,Millinger S,Mueller-Holzner E,et al. Circulating tumor-specific DNA:a marker for monitoring efficacy of adjuvant therapy in cancer patients [J]. Cancer Res 2005,65(4):1141-1145.
[25] Fackler MJ,Lopez BZ,Umbricht C,et al. Novel methylated biomarkers and a robust assay to detect circulating tumor DNA in metastatic breast cancer [J]. Cancer Res,2014,74(8):2160-2170.
[26] Page K,Guttery DS,Fernandez-Garcia D,et al. Next generation sequencing of circulating cellfree DNA for evaluating mutations and gene amplification in metastatic breast cancer [J]. Clin Chem,2017,63(2):532-541.
[27] Appierto V,Di CS,Reduzzi C,et al. How to study and overcome tumor heterogeneity with circulating biomarkers:The breast cancer case [J]. Semin Cancer Biol,2017, 44:106-116.
[28] Chu D,Paoletti C,Gersch C,et al. ESR1 mutations in circulating plasma tumor DNA from metastatic breast cancer patients [J]. Clin Cancer Res,2016,22(11):993-999.
[29] Schiavon G,Hrebien S,Garcia-Murillas I,et al. Analysis of ESR1 mutation in circulating tumor DNA demonstrates evolution during therapy for metastatic breast cancer [J]. Sci Transl Med,2015,7(313):313ra182.
[30] Miller TW,Rexer BN,Garrett JT,et al. Mutations in the phosphatidylino sitol3 kinase pathway:role in tumor progression and therapeutic implications in breast cancer [J]. Breast Cancer Res,2011,13(6):224.
[31] Maass N,Schütz F,Fasching PA,et al. Breast cancer update 2014-focus on the patient and the tumour [J]. Geburtshilfe Frauenheilkd,2015,75(2):170-182.
[32] Wang H,Li B,Liu Z,et al. HER2 copy number of circulating tumour DNA functions as a biomarker to predict and monitor trastuzumab efficacy in advanced gastric cancer [J]. Eur J Cancer,2018,88:92-100.
[33] Murtaza M,Dawson SJ,Tsui DW,et al. Non- invasive analysis of acquired resistance to cancer therapy by sequencing of plasma DNA [J]. Nature,2013,497(7447):108-112.
[34] Murtaza M,Dawson SJ,Pogrebniak K,et al. Multifocal clonal evolution characterized using circulating tumour DNA in a case of metastatic breast cancer [J]. Nat Commun,2015,6:8760.
[35] Garcia-Murillas I,Schiavon G,Weigelt B,et al. Mutation tracking in circulating tumor DNA predicts relapse in early breast cancer [J]. Sci Transl Med,2015,7(302):302ra133.
[36] Reinert T,Scholer LV,Thomsen R,et al. Analysis of circulating tumour DNA to monitor disease burden following colorectal cancer surgery [J]. Gut,2016,65(4):625-634.
[37] Russo M,Misale S,Wei G,et al. Acquired resistance to the TRK inhibitor entrectinib in colorectal cancer [J]. Cancer Discov,2016,6(1):36-44.
[38] Harris FR,Kovtun LV,Smadbeck J,et al. Quantification of somatic chromosomal rearrangements in circulating cell-free DNA from ovarian cancers [J]. Sci Rep,2016, 6:29831.
[39] Olsson E,Winter C,George A,et al. Serial monitoring of circulating tumor DNA in patients with primary breast cancer for detection of occult metastatic disease [J]. EMBO Mol Med,2015,7(8):1034-1047.