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Genome Sequencing in Esophageal Squamous Cell Carcinoma

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Esophageal Squamous Cell Carcinoma

Part of the book series: Methods in Molecular Biology ((MIMB,volume 2129))

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Abstract

Technological advances in the form of next-generation sequencing allow sequencing of large numbers of different DNA sequences in a single/parallel reaction compared to conventional sequencing. It is a powerful tool which has enabled comprehensive characterization of esophageal squamous cell carcinoma. Whole-genome sequencing is the most comprehensive but expensive, whereas whole-exome sequencing is cost-effective, but it only works for the known genes. Thus, second-generation sequencing methods can provide a complete picture of the esophageal squamous cell carcinoma genome by detecting and discovering different type of alterations in the cancer which may lead to the development of effective diagnostic and therapeutic approaches for esophageal squamous cell carcinoma.

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References

  1. Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A 74:5463–5467

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. Rizzo JM, Buck MJ (2012) Key principles and clinical applications of "next-generation" DNA sequencing. Cancer Prev Res 5:887–900

    Article  CAS  Google Scholar 

  3. Pillai S, Gopalan V, Lam AK (2017) Review of sequencing platforms and their applications in phaeochromocytoma and paragangliomas. Crit Rev Oncol Hematol 116:58–67

    Article  PubMed  Google Scholar 

  4. Mardis ER (2013) Next-generation sequencing platforms. Annu Rev Anal Chem 6:287–303

    Article  CAS  Google Scholar 

  5. Sasaki Y, Tamura M, Koyama R et al (2016) Genomic characterization of esophageal squamous cell carcinoma: insights from next-generation sequencing. World J Gastroenterol 22:2284–2293

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. Lohmann K, Klein C (2014) Next generation sequencing and the future of genetic diagnosis. Neurotherapeutics 11:699–707

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. Golyan FF, Moghaddassian M, Forghanifard MM et al (2019) Whole exome sequencing reveals a novel damaging mutation in human fibroblast activation protein in a family with esophageal squamous cell carcinoma. J Gastrointest Cancer. (In press) https://doi.org/10.1007/s12029-019-00224-x

  8. Lin DC, Dinh HQ, Xie JJ et al (2018) Identification of distinct mutational patterns and new driver genes in oesophageal squamous cell carcinomas and adenocarcinomas. Gut 67:1769–1779

    Article  CAS  PubMed  Google Scholar 

  9. Xing S, Zheng X, Wei LQ et al (2017) Development and validation of a serum biomarker panel for the detection of esophageal squamous cell carcinoma through RNA transcriptome sequencing. J Cancer 8:2346–2355

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. Song Y, Li L, Ou Y et al (2014) Identification of genomic alterations in oesophageal squamous cell cancer. Nature 509:91–95

    Article  CAS  PubMed  Google Scholar 

  11. Agrawal N, Jiao Y, Bettegowda C et al (2012) Comparative genomic analysis of esophageal adenocarcinoma and squamous cell carcinoma. Cancer Discov 2:899–905

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  12. Forouzanfar N, Baranova A, Milanizadeh S et al (2017) Novel candidate genes may be possible predisposing factors revealed by whole exome sequencing in familial esophageal squamous cell carcinoma. Tumour Biol 39:1010428317699115

    Article  CAS  PubMed  Google Scholar 

  13. Gao YB, Chen ZL, Li JG et al (2014) Genetic landscape of esophageal squamous cell carcinoma. Nat Genet 46:1097–1020

    Article  CAS  PubMed  Google Scholar 

  14. Ma S, Bao JYJ, Kwan PS et al (2012) Identification of PTK6, via RNA sequencing analysis, as a suppressor of esophageal squamous cell carcinoma. Gastroenterology 143:675–686

    Article  CAS  PubMed  Google Scholar 

  15. Lin DC, Hao JJ, Nagata Y et al (2014) Genomic and molecular characterization of esophageal squamous cell carcinoma. Nat Genet 46:467–473

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  16. Bainbridge MN, Wang M, Burgess DL et al (2010) Whole exome capture in solution with 3 Gbp of data. Genome Biol 11:R62

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  17. Sun M, Ju H, Zhou Z (2014) Pilot genome-wide study of tandem 3’ UTRs in esophageal cancer using high-throughput sequencing. Mol Med Rep 9:1597–1605

    Google Scholar 

  18. Zhang J, Chen Z, Tang Z et al (2017) RNA editing is induced by type I interferon in esophageal squamous cell carcinoma. Tumour Biol 39:1010428317708546

    PubMed  Google Scholar 

  19. Wang K, Johnson A, Ali SM et al (2015) Comprehensive genomic profiling of advanced esophageal squamous cell carcinomas and esophageal adenocarcinomas reveals similarities and differences. Oncologist 20:1132–1139

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  20. Cheng C, Cui H, Zhang L et al (2016) Genomic analyses reveal FAM84B and the NOTCH pathway are associated with the progression of esophageal squamous cell carcinoma. Gigascience 5:1

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  21. Kishino T, Niwa T, Yamashita S et al (2016) Integrated analysis of DNA methylation and mutations in esophageal squamous cell carcinoma. Mol Carcinog 55:2077–2088

    Article  CAS  PubMed  Google Scholar 

  22. Nakazato H, Takeshima H, Kishino T et al (2016) Early-stage induction of SWI/SNF mutations during esophageal squamous cell carcinogenesis. PLoS One 11:e0147372

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  23. Luo H, Li H, Hu Z et al (2016) Noninvasive diagnosis and monitoring of mutations by deep sequencing of circulating tumor DNA in esophageal squamous cell carcinoma. Biochem Biophys Res Commun 471:596–602

    Article  CAS  PubMed  Google Scholar 

  24. Welander J, Andreasson A, Juhlin CC et al (2014) Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma. J Clin Endocrinol Metab 99:1352–1360

    Article  CAS  Google Scholar 

  25. Pan Z, Mao W, Bao Y et al (2016) The long noncoding RNA CASC9 regulates migration and invasion in esophageal cancer. Cancer Med 5:2442–2447

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  26. Ueda M, Iguchi T, Masuda T et al (2016) Somatic mutations in plasma cell-free DNA are diagnostic markers for esophageal squamous cell carcinoma recurrence. Oncotarget 7:62280–62291

    Article  PubMed  PubMed Central  Google Scholar 

  27. Hao JJ, Lin DC, Dinh HQ et al (2016) Spatial intratumoral heterogeneity and temporal clonal evolution in esophageal squamous cell carcinoma. Nat Genet 48:1500–1507

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  28. Zheng H, Wang Y, Tang C et al (2016) TP53, PIK3CA, FBXW7 and KRAS mutations in esophageal cancer identified by targeted sequencing. Cancer Genomics Proteomics 13:231–238

    CAS  PubMed  Google Scholar 

  29. Quail MA, Smith M, Coupland P et al (2012) A tale of three next generation sequencing platforms: comparison of ion torrent, Pacific biosciences, and Illumina MiSeq sequencers. BMC Genomics 13:341

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  30. Liu X, Zhang M, Ying S et al (2017) Genetic alterations in esophageal tissues from squamous dysplasia to carcinoma. Gastroenterology 153:166–177

    Article  CAS  PubMed  Google Scholar 

  31. Yang JW, Choi YL (2017) Genomic profiling of esophageal squamous cell carcinoma (ESCC)-basis for precision medicine. Pathol Res Pract 213:836–841

    Article  CAS  PubMed  Google Scholar 

  32. Kobayashi S, Yamaguchi T, Maekawa S et al (2018) Target sequencing of cancer-related genes in early esophageal squamous neoplasia resected by endoscopic resection in Japanese patients. Oncotarget 9:36793–36803

    PubMed  PubMed Central  Google Scholar 

  33. Lin ZW, Gu J, Liu RH et al (2014) Genome-wide screening and co-expression network analysis identify recurrence-specific biomarkers of esophageal squamous cell carcinoma. Tumour Biol 35:10959–10968

    Article  CAS  PubMed  Google Scholar 

  34. Yokota T, Serizawa M, Hosokawa A et al (2018) PIK3CA mutation is a favorable prognostic factor in esophageal cancer: molecular profile by next-generation sequencing using surgically resected formalin-fixed, paraffin-embedded tissue. BMC Cancer 18:826

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  35. van El CG, Cornel MC, Borry P et al (2013) Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics. Eur J Hum Genet 21:1–5

    Google Scholar 

  36. Meyerson M, Gabriel S, Getz G (2010) Advances in understanding cancer genomes through second-generation sequencing. Nat Rev Genet 11:685–696

    Article  CAS  PubMed  Google Scholar 

  37. Sims D, Sudbery I, Ilott NE et al (2014) Sequencing depth and coverage: key considerations in genomic analyses. Nat Rev Genet 15:121–132

    Article  CAS  PubMed  Google Scholar 

  38. Zhang L, Zhou Y, Cheng C et al (2015) Genomic analyses reveal mutational signatures and frequently altered genes in esophageal squamous cell carcinoma. Am J Hum Genet 96:597–611

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  39. Chang J, Tan W, Ling Z et al (2017) Genomic analysis of oesophageal squamous-cell carcinoma identifies alcohol drinking-related mutation signature and genomic alterations. Nat Commun 8:15290

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  40. Chen Z, Zhang C, Pan Y et al (2016) T cell receptorβ-chain repertoire analysis reveals intratumour heterogeneity of tumour-infiltrating lymphocytes in oesophageal squamous cell carcinoma. J Pathol 239:450–458

    Article  CAS  PubMed  Google Scholar 

  41. Rabbani B, Tekin M, Mahdieh N (2014) The promise of whole-exome sequencing in medical genetics. J Hum Genet 59:5–15

    Article  CAS  PubMed  Google Scholar 

  42. Parla JS, Iossifov I, Grabill I et al (2011) A comparative analysis of exome capture. Genome Biol 12:97

    Article  CAS  Google Scholar 

  43. Zhu Q, Hu Q, Shepherd L et al (2015) The impact of DNA input amount and DNA source on the performance of whole-exome sequencing in cancer epidemiology. Cancer Epidemiol Biomark Prev 24:1207–1213

    Article  CAS  Google Scholar 

  44. Wang Z, Gerstein M, Snyder M (2009) RNA-Seq: a revolutionary tool for transcriptomics. Nat Rev Genet 10:57–63

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  45. Peng X, Xue H, Lü L et al (2017) Accumulated promoter methylation as a potential biomarker for esophageal cancer. Oncotarget 8:679–691

    PubMed  Google Scholar 

  46. Margulies M, Egholm M, Altman WE et al (2005) Genome sequencing in microfabricated high-density picolitre reactors. Nature 43:376–380

    Article  Google Scholar 

  47. Pareek CS, Smoczynski R, Tretyn A (2011) Sequencing technologies and genome sequencing. J Appl Genet 52:413–435

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  48. Li X, Buckton AJ, Wilkinson SL et al (2013) Towards clinical molecular diagnosis of inherited cardiac conditions: a comparison of bench-top genome DNA sequencers. PLoS One 8:e67744

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  49. Ballester LY, Luthra R, Kanagal-Shamanna R et al (2016) Advances in clinical next-generation sequencing: target enrichment and sequencing technologies. Expert Rev Mol Diagn 16:357–372

    Article  CAS  PubMed  Google Scholar 

  50. Wang W, Wei C, Li P et al (2018) Integrative analysis of mRNA and lncRNA profiles identified pathogenetic lncRNAs in esophageal squamous cell carcinoma. Gene 661:169–175

    Article  CAS  PubMed  Google Scholar 

  51. Moorthie S, Mattocks CJ, Wright CF (2011) Review of massively parallel DNA sequencing technologies. HUGO J 5:1–12

    Article  PubMed  PubMed Central  Google Scholar 

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Correspondence to Alfred K. Lam .

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Pillai, S., Maksemous, N., Lam, A.K. (2020). Genome Sequencing in Esophageal Squamous Cell Carcinoma. In: Lam, A. (eds) Esophageal Squamous Cell Carcinoma. Methods in Molecular Biology, vol 2129. Humana, New York, NY. https://doi.org/10.1007/978-1-0716-0377-2_17

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  • DOI: https://doi.org/10.1007/978-1-0716-0377-2_17

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  • Publisher Name: Humana, New York, NY

  • Print ISBN: 978-1-0716-0376-5

  • Online ISBN: 978-1-0716-0377-2

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