[1] Rubis G D, Krishnan S R, Bebawy M. Liquid biopsies in cancer diagnosis, monitoring, and prognosis[J]. Trends in Pharmacological Sciences, 2019, 40(3):172-186.
[2] Mader S, Pantel K. Liquid biopsy:Current status and future perspectives[J]. Oncology Research and Treatment, 2017, 40(7-8):404-408.
[3] Cabel L, Proudhon C, Romano E, et al. Clinical potential of circulating tumour DNA in patients receiving anticancer immunotherapy[J]. Nature Reviews Clinical Oncology, 2018, 15(10):639-650.
[4] Rubis G D, Krishnan S R, Bebawy M. Circulating tumor DNA-current state of play and future perspectives[J]. Pharmacological Research, 2018, 136:35-44.
[5] Paolillo C, Londin E, Fortina P. Next generation sequencing in cancer:Opportunities and challenges for precision cancer medicine[J]. Scandinavian Journal of Clinical and Laboratory Investigation, 2016, 245:84-91.
[6] Arboleda V A, Xian R R. An overview of DNA analytical methods[J]. Methods in Molecular Biology, 2019, 1897:385-402.
[7] Duffy M J, O'Byrne K. Tissue and blood biomarkers in lung cancer:A review[J]. Advances in Clinical Chemistry, 2018, 86:1-21.
[8] Li W, Zhang M, Huang C, et al. Genetic variants of DNA repair pathway genes on lung cancer risk[J]. Pathology Research and Practice, 2019, 215(10):152548.
[9] 白日兰, 刘一凝, 崔久嵬. 肺癌的遗传咨询与精准诊疗策略[J]. 中国肿瘤生物治疗杂志, 2020, 27(8):835-842.
[10] Ji Z, Li Y, Xiang C, et al. TERT-rs33963617 and CLPTM1L-rs77518573 reduce the risk of non-small cell lung cancer in Chinese population[J]. Gene, 2020, 731:144357.
[11] Li Y, Xiang C, Shen N, et al. Functional polymorphisms on chromosome 5p15.33 disturb telomere biology and confer the risk of non-small cell lung cancer in Chinese population[J]. Molecular Carcinogenesis, 2019, 58(6):913-921.
[12] 景丽, 郑杰. 染色体易位与恶性肿瘤[J]. 中华病理学杂志, 2011(2):138-140.
[13] 李洁. 食管鳞癌中1号染色体长臂杂合性缺失的研究[D]. 北京:北京协和医学院, 2004.
[14] 王晓玫, 彭全洲, 单军, 等. 3p杂合性缺失与非小细胞肺癌的相关性[J]. 广东医学, 2007, 28(7):1060-1062.
[15] Postel M, Roosen A, Laurent-Puig P, et al. Dropletbased digital PCR and next generation sequencing for monitoring circulating tumor DNA:A cancer diagnostic perspective[J]. Expert Review of Molecular Diagnostics, 2018, 18(1):7-17.
[16] Guo S, Diep D, Plongthongkum N, et al. Identification of methylation haplotype blocks aids in deconvolution of heterogeneous tissue samples and tumor tissue-of-origin mapping from plasma DNA[J]. Nature Genetics, 2017, 49(4):635-642.
[17] Andree K C, van Dalum G, Terstappen L W. Challenges in circulating tumor cell detection by the CellSearch system[J]. Molecular Oncology, 2016, 10(3):395-407.
[18] Gkountela S, Castro-Giner F, Szczerba B M, et al. Circulating tumor cell clustering shapes DNA methylation to enable metastasis seeding[J]. Cell, 2019, 176(1-2):98-112.e114.
[19] Shao H, Im H. New technologies for analysis of extracellular vesicles[J]. Chemical Reviews, 2018, 118(4):1917-1950.
[20] Gholizadeh S, Shehata D M, Zarghooni M, et al. Microfluidic approaches for isolation, detection, and characterization of extracellular vesicles:Current status and future directions[J]. Biosensors & Bioelectronics, 2017, 91:588-605.
[21] Chen G, Huang A C, Zhang W, et al. Exosomal PD-L1 contributes to immunosuppression and is associated with anti-PD-1 response[J]. Nature, 2018, 560(7718):382-386.
[22] Melo S A, Luecke L B, Kahlert C, et al. Glypican-1 identifies cancer exosomes and detects early pancreatic cancer[J]. Nature, 2015, 523(7559):177-182.
[23] Brabender J, Usadel H, Danenberg K D, et al. Adenomatous polyposis coli gene promoter hypermethylation in non-small cell lung cancer is associated with survival[J]. Oncogene, 2001, 20(27):3528-3532.
[24] Li J, Li Y, Li W, et al. Guide positioning sequencing identifies aberrant DNA methylation patterns that alter cell identity and tumor-immune surveillance networks[J]. Genome Research, 2019, 29(2):270-280.
[25] Feng Q, Hawes S E, Stern J E, et al. DNA methylation in tumor and matched normal tissues from non-small cell lung cancer patients[J]. Cancer Epidemiol Biomarkers Prevention, 2008, 17(3):645-654.
[26] Lomberk G, Mathison A J, Grzenda A, et al. The sunset of somatic genetics and the dawn of epigenetics:A new frontier in pancreatic cancer research[J]. Current Opinion in Gastroenterology, 2008, 24(5):597-602.
[27] Schneider G, Krämer O H, Schmid R M, et al. Acetylation as a transcriptional control mechanism-HDACs and HATs in pancreatic ductal adenocarcinoma[J]. Journal of Gastrointestinal Cancer, 2011, 42(2):85-92.
[28] Li M, Li A, He R, et al. Gene polymorphism of cytochrome P450 significantly affects lung cancer susceptibility[J]. Cancer Medicine, 2019, 8(10):4892-4905.
[29] Haiges D, Kurz P, Laaff H, et al. Malignant PEComa[J]. Journal of Cutaneous Pathology, 2018, 45(1):84-89.
[30] Abbott J, Teleni L, McKavanagh D, et al. Patient-generated subjective global assessment short form (PG-SGA SF) is a valid screening tool in chemotherapy outpatients[J]. Supportive Care in Cancer, 2016, 24(9):3883-3887.
[31] Yagi T, Shoaib M, Kuschner C, et al. Challenges and inconsistencies in using lysophosphatidic acid as a biomarker for ovarian cancer[J]. Cancers (Basel), 2019, 11(4):520.
[32] Ferro M, Buonerba C, Terracciano D, et al. Biomarkers in localized prostate cancer[J]. Future Oncology, 2016, 12(3):399-411.
[33] Nishiumi S, Kobayashi T, Ikeda A, et al. A novel serum metabolomics-based diagnostic approach for colorectal cancer[J]. PLoS One, 2012, 7(7):e40459.
[34] Szczerba B M, Castro-Giner F, Vetter M, et al. Neutrophils escort circulating tumour cells to enable cell cycle progression[J]. Nature, 2019, 566(7745):553-557.
[35] Routy B, Le Chatelier E. Gut microbiome influences efficacy of PD-1-based immunotherapy against epithelial tumors[J]. Science, 2018, 359(6371):91-97.
[36] Xu H, Baidoo A A H, Su S, et al. A comparison of EGFR mutation status in tissue and plasma cell-free DNA detected by ADx-ARMS in advanced lung adenocarcinoma patients[J]. Translational Lung Cancer Research, 2019, 8(2):135-143.
[37] Li X, Ren R, Ren S, et al. Peripheral blood for epidermal growth factor receptor mutation detection in nonsmall cell lung cancer patients[J]. Translational Oncology, 2014, 7(3):341-348.
[38] Hung M S, Lung J H, Lin Y C, et al. Comparative analysis of two methods for the detection of egfr mutations in plasma circulating tumor DNA from lung adenocarcinoma Patients[J]. Cancers (Basel), 2019, 11(6):803.
[39] Buermans H P, den Dunnen J T. Next generation sequencing technology:Advances and applications[J]. Biochimica et Biophysica Acta, 2014, 1842(10):1932-1941.
[40] Li Y, Xu H, Su S, et al. Clinical validation of a highly sensitive assay to detect EGFR mutations in plasma cell-free DNA from patients with advanced lung adenocarcinoma[J]. PLoS One, 2017, 12(8):e0183331.
[41] Li Z, Wang Z, Tang Y, et al. Liquid biopsy-based single-cell metabolic phenotyping of lung cancer patients for informative diagnostics[J]. Nature Communications, 2019, 10(1):3856.
[42] Goldstein L D, Cao Y, Pau G, et al. Prediction and quantification of splice events from RNA-Seq data[J]. PLoS One, 2016, 11(5):e0156132.
[43] Steijger T, Abril J F, Engstrom P G, et al. Assessment of transcript reconstruction methods for RNA-seq[J]. Nature Methods, 2013, 10(12):1177-1184.
[44] Wiedmeier J E, Noel P, Lin W, et al. Single-cell sequencing in precision medicine[J]. Cancer Treatment and Research, 2019, 178:237-252.
[45] Zhang Q, He Y, Luo N, et al. Landscape and dynamics of single immune cells in hepatocellular carcinoma[J]. Cell, 2019, 179(4):829-845.
[46] Rodriques S G, Stickels R R. Slide-seq:A scalable technology for measuring genome-wide expression at high spatial resolution[J]. Science, 2019, 363(6434):1463-1467.
[47] Dagher M, Kleinman M, Ng A, et al. Ensemble multicolour FRET model enables barcoding at extreme FRET levels[J]. Nature Nanotechnology, 2018, 13(10):925-932.
[48] Campanella G, Hanna M G, Geneslaw L, et al. Clinicalgrade computational pathology using weakly supervised deep learning on whole slide images[J]. Nature Medicine, 2019, 25(8):1301-1309.
[49] Abelson S, Collord G, Ng S W K, et al. Prediction of acute myeloid leukaemia risk in healthy individuals[J]. Nature, 2018, 559(7714):400-404.
[50] Krug A K, Enderle D, Karlovich C, et al. Improved EGFR mutation detection using combined exosomal RNA and circulating tumor DNA in NSCLC patient plasma[J]. Annals of Oncology, 2018, 29(3):700-706.
[51] Reck M, Mok T S K, Nishio M, et al. Atezolizumab plus bevacizumab and chemotherapy in non-small-cell lung cancer (IMpower150):Key subgroup analyses of patients with EGFR mutations or baseline liver metastases in a randomised, open-label phase 3 trial[J]. Lancet Respiratory Medicine, 2019, 7(5):387-401.
[52] Ascierto M L, Kmieciak M, Idowu M O, et al. A signature of immune function genes associated with recurrence-free survival in breast cancer patients[J]. Breast Cancer Research and Treatment, 2012, 131(3):871-880.
[53] Ribas A, Robert C, Hodi F S, et al. Association of response to programmed death receptor 1(PD-1) blockade with pembrolizumab (MK-3475) with an interferoninflammatory immune gene signature[J]. Polymer International, 2015, 33(2):141-147.
[54] Zhang C, Yu W, Wang L, et al. DNA methylation analysis of the SHOX2 and RASSF1A panel in bronchoalveolar lavage fluid for lung cancer diagnosis[J]. Journal of Cancer, 2017, 8(17):3585-3591.
[55] Cohen J D, Li L. Detection and localization of surgically resectable cancers with a multi-analyte blood test[J]. Science, 2018, 359(6378):926-930.
[56] Wang Z, Cheng Y, An T, et al. Detection of EGFR mutations in plasma circulating tumour DNA as a selection criterion for first-line gefitinib treatment in patients with advanced lung adenocarcinoma (BENEFIT):A phase 2, single-arm, multicentre clinical trial[J]. Lancet Respiratory Medicine, 2018, 6(9):681-690.
[57] Lee J H, Long G V, Menzies A M, et al. Association between circulating tumor DNA and pseudoprogression in patients with metastatic melanoma treated with anti-programmed cell death 1 antibodies[J]. JAMA Oncology, 2018, 4(5):717-721.
[58] Wang Y, Li L, Cohen J D, et al. Prognostic potential of circulating tumor DNA measurement in postoperative surveillance of nonmetastatic colorectal cancer[J]. JAMA Oncology, 2019, 5(8):1118-1123.
[59] Toi Y, Sugawara S, Sugisaka J, et al. Profiling preexisting antibodies in patients treated with anti-PD-1 therapy for advanced non-small cell lung cancer[J]. JAMA Oncology, 2019, 5(3):376-383.