Skip to main content
SpringerLink
Log in

Molecular Diagnostic Techniques

  • Chapter
  • First Online:
Bioinformatics for Diagnosis, Prognosis and Treatment of Complex Diseases

Part of the book series: Translational Bioinformatics ((TRBIO,volume 4))

  • 1793 Accesses

Abstract

Prior to the rapid development of molecular techniques for clinical diagnostics, cancer was evaluated mainly according to the traditional morphology under a microscope. The mapping of the human genome refreshes the way disease is diagnosed and treated, which is indeed a huge accomplishment in the field of medicine. With the emergence of novel molecular diagnosis technologies, it helps physicians to answer multiple clinical questions that are inadequately answered now. Understanding the behaviors of specific genes will not only facilitate us detect cancer earlier, but it will provide important clues as to how to manage the disease more efficiently. A selection of techniques that are currently available to describe a detailed molecular characterization of various cancers is summarized in this volume.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 84.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Hardcover Book
USD 109.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  • Braggio E, Egan JB, Fonseca R, Stewart AK. Lessons from next-generation sequencing analysis in hematological malignancies. Blood Cancer J. 2013;3:e127.

    Article  PubMed  CAS  Google Scholar 

  • Campana D, Pui CH. Detection of minimal residual disease in acute leukemia: methodologic advances and clinical significance. Blood. 1995;85:1416–34.

    PubMed  CAS  Google Scholar 

  • Ceppi P, Volante M, Novello S, Rapa I, Danenberg KD, Danenberg PV, Cambieri A, Selvaggi G, Saviozzi S, Calogero R, et al. ERCC1 and RRM1 gene expressions but not EGFR are predictive of shorter survival in advanced non-small-cell lung cancer treated with cisplatin and gemcitabine. Ann Oncol. 2006;17:1818–25.

    Article  PubMed  CAS  Google Scholar 

  • Cullinane AR, Vilboux T, O’Brien K, Curry JA, Maynard DM, Carlson-Donohoe H, Ciccone C, Markello TC, Gunay-Aygun M, Huizing M, et al. Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia. J Invest Dermatol. 2011;131:2017–25.

    Article  PubMed  CAS  Google Scholar 

  • Didenko VV. DNA probes using fluorescence resonance energy transfer (FRET): designs and applications. Biotechniques. 2001:31:1106–16, 1118, 1120–1.

    Google Scholar 

  • Dolken G. Detection of minimal residual disease. Adv Cancer Res. 2001;82:133–85.

    Article  PubMed  CAS  Google Scholar 

  • Druker BJ, Talpaz M, Resta DJ, Peng B, Buchdunger E, Ford JM, Lydon NB, Kantarjian H, Capdeville R, Ohno-Jones S, et al. Efficacy and safety of a specific inhibitor of the BCR-ABL tyrosine kinase in chronic myeloid leukemia. N Engl J Med. 2001;344:1031–7.

    Article  PubMed  CAS  Google Scholar 

  • Ellison G, Donald E, McWalter G, Knight L, Fletcher L, Sherwood J, Cantarini M, Orr M, Speake G. A comparison of ARMS and DNA sequencing for mutation analysis in clinical biopsy samples. J Exp Clin Cancer Res. 2010;29:132.

    Article  PubMed  Google Scholar 

  • Ellison G, Zhu G, Moulis A, Dearden S, Speake G, McCormack R. EGFR mutation testing in lung cancer: a review of available methods and their use for analysis of tumour tissue and cytology samples. J Clin Pathol. 2013;66:79–89.

    Article  PubMed  CAS  Google Scholar 

  • Grada A, Weinbrecht K. Next-generation sequencing: methodology and application. J Invest Dermatol. 2013;133:e11.

    Article  PubMed  Google Scholar 

  • Ikeda T, Nakamura Y, Yamaguchi H, Tomonaga N, Doi S, Nakatomi K, Iida T, Motoshima K, Mizoguchi K, Nagayasu T, et al. Direct comparison of 3 PCR methods in detecting EGFR mutations in patients with advanced non-small-cell lung cancer. Clin Lung Cancer. 2012

    Google Scholar 

  • Inoue K, Ogawa H, Yamagami T, Soma T, Tani Y, Tatekawa T, Oji Y, Tamaki H, Kyo T, Dohy H, et al. Long-term follow-up of minimal residual disease in leukemia patients by monitoring WT1 (Wilms tumor gene) expression levels. Blood. 1996;88:2267–78.

    PubMed  CAS  Google Scholar 

  • Kelloff GJ, Sigman CC. Cancer biomarkers: selecting the right drug for the right patient. Nat Rev Drug Discov. 2012;11:201–14.

    Article  PubMed  CAS  Google Scholar 

  • Kwak EL, Bang YJ, Camidge DR, Shaw AT, Solomon B, Maki RG, Ou SH, Dezube BJ, Janne PA, Costa DB, et al. Anaplastic lymphoma kinase inhibition in non-small-cell lung cancer. N Engl J Med. 2010;363:1693–703.

    Article  PubMed  CAS  Google Scholar 

  • Lai-Cheong JE, McGrath JA. Next-generation diagnostics for inherited skin disorders. J Invest Dermatol. 2011;131:1971–3.

    Article  PubMed  CAS  Google Scholar 

  • Liu Y, Liu B, Li XY, Li JJ, Qin HF, Tang CH, Guo WF, Hu HX, Li S, Chen CJ, et al. A comparison of ARMS and direct sequencing for EGFR mutation analysis and tyrosine kinase inhibitors treatment prediction in body fluid samples of non-small-cell lung cancer patients. J Exp Clin Cancer Res. 2011;30:111.

    Article  PubMed  CAS  Google Scholar 

  • Lynch TJ, Bell DW, Sordella R, Gurubhagavatula S, Okimoto RA, Brannigan BW, Harris PL, Haserlat SM, Supko JG, Haluska FG, et al. Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib. N Engl J Med. 2004;350:2129–39.

    Article  PubMed  CAS  Google Scholar 

  • Metzker ML. Sequencing technologies—the next generation. Nat Rev Genet. 2010;11:31–46.

    Article  PubMed  CAS  Google Scholar 

  • Netto GJ, Saad RD, Dysert PA 2nd. Diagnostic molecular pathology: current techniques and clinical applications, part I. Proc (Bayl Univ Med Cent). 2003;16:379–83.

    Google Scholar 

  • Newton CR, Graham A, Heptinstall LE, Powell SJ, Summers C, Kalsheker N, Smith JC, Markham AF. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res. 1989;17:2503–16.

    Article  PubMed  CAS  Google Scholar 

  • Paez JG, Janne PA, Lee JC, Tracy S, Greulich H, Gabriel S, Herman P, Kaye FJ, Lindeman N, Boggon TJ, et al. EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy. Science. 2004;304:1497–500.

    Article  PubMed  CAS  Google Scholar 

  • Park DJ, Lenz HJ. Determinants of chemosensitivity in gastric cancer. Curr Opin Pharmacol. 2006;6:337–44.

    Article  PubMed  CAS  Google Scholar 

  • Piccart-Gebhart MJ, Procter M, Leyland-Jones B, Goldhirsch A, Untch M, Smith I, Gianni L, Baselga J, Bell R, Jackisch C, et al. Trastuzumab after adjuvant chemotherapy in HER2-positive breast cancer. N Engl J Med. 2005;353:1659–72.

    Article  PubMed  CAS  Google Scholar 

  • Rosell R, Taron M, Alberola V, Massuti B, Felip E. Genetic testing for chemotherapy in non-small cell lung cancer. Lung Cancer. 2003;41(Suppl 1):S97–102.

    Article  PubMed  Google Scholar 

  • Saiki RK, Scharf S, Faloona F, Mullis KB, Horn GT, Erlich HA, Arnheim N. Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science. 1985;230:1350–4.

    Article  PubMed  CAS  Google Scholar 

  • Sanger F, Coulson AR. A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase. J Mol Biol. 1975;94:441–8.

    Article  PubMed  CAS  Google Scholar 

  • Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA. 1977;74:5463–7.

    Article  PubMed  CAS  Google Scholar 

  • Sharma SV, Bell DW, Settleman J, Haber DA. Epidermal growth factor receptor mutations in lung cancer. Nat Rev Cancer. 2007;7:169–81.

    Article  PubMed  CAS  Google Scholar 

  • Simon G, Sharma A, Li X, Hazelton T, Walsh F, Williams C, Chiappori A, Haura E, Tanvetyanon T, Antonia S, et al. Feasibility and efficacy of molecular analysis-directed individualized therapy in advanced non-small-cell lung cancer. J Clin Oncol. 2007;25:2741–6.

    Article  PubMed  CAS  Google Scholar 

  • Slamon DJ, Clark GM, Wong SG, Levin WJ, Ullrich A, McGuire WL. Human breast cancer: correlation of relapse and survival with amplification of the HER-2/neu oncogene. Science. 1987;235:177–82.

    Article  PubMed  CAS  Google Scholar 

  • Stengel C, Newman SP, Leese MP, Potter BV, Reed MJ, Purohit A. Class III beta-tubulin expression and in vitro resistance to microtubule targeting agents. Br J Cancer. 2010;102:316–24.

    Article  PubMed  CAS  Google Scholar 

  • Valasek MA, Repa JJ. The power of real-time PCR. Adv Physiol Educ. 2005;29:151–9.

    Article  PubMed  Google Scholar 

  • van der Velden VH, Hochhaus A, Cazzaniga G, Szczepanski T, Gabert J, van Dongen JJ. Detection of minimal residual disease in hematologic malignancies by real-time quantitative PCR: principles, approaches, and laboratory aspects. Leukemia. 2003;17:1013–34.

    Article  PubMed  Google Scholar 

  • van Krieken JH, Langerak AW, Macintyre EA, Kneba M, Hodges E, Sanz RG, Morgan GJ, Parreira A, Molina TJ, Cabecadas J, et al. Improved reliability of lymphoma diagnostics via PCR-based clonality testing: report of the BIOMED-2 Concerted Action BHM4-CT98-3936. Leukemia. 2007;21:201–6.

    Article  PubMed  Google Scholar 

  • Wittwer CT. High-resolution DNA melting analysis: advancements and limitations. Hum Mutat. 2009:30:857–9.

    Article  PubMed  CAS  Google Scholar 

  • Wittwer CT, Herrmann MG, Moss AA, Rasmussen RP. Continuous fluorescence monitoring of rapid cycle DNA amplification. Biotechniques. 1997:22:130–1, 134–8.

    Google Scholar 

  • Wolff AC, Hammond ME, Schwartz JN, Hagerty KL, Allred DC, Cote RJ, Dowsett M, Fitzgibbons PL, Hanna WM, Langer A, et al. American Society of Clinical Oncology/College of American Pathologists guideline recommendations for human epidermal growth factor receptor 2 testing in breast cancer. Arch Pathol Lab Med. 2007;131:18–43.

    PubMed  CAS  Google Scholar 

  • Yaziji H, Goldstein LC, Barry TS, Werling R, Hwang H, Ellis GK, Gralow JR, Livingston RB, Gown AM. HER-2 testing in breast cancer using parallel tissue-based methods. JAMA. 2004;291:1972–7.

    Article  PubMed  CAS  Google Scholar 

  • Zhuang Y, Xu J, Ma H, Zhu W, Guo L, Kang S, Guo F. A sequential method of epidermal growth factor receptor mutation detection reduces false negatives: a new case with doublet mutations of L833V and H835L in China. Clin Lung Cancer. 2013;14:295–300.

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Central Lab, The First Affiliated Hospital of Soochow University, Shizi Road 188, Suzhou, 215006, China

    Feng Guo

Authors
  1. Feng Guo
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Feng Guo .

Editor information

Editors and Affiliations

  1. Center for Systems Biology, Soochow University, Suzhou, People's Republic of China

    Bairong Shen

Rights and permissions

Reprints and permissions

Copyright information

© 2013 Springer Science+Business Media Dordrecht

About this chapter

Cite this chapter

Guo, F. (2013). Molecular Diagnostic Techniques. In: Shen, B. (eds) Bioinformatics for Diagnosis, Prognosis and Treatment of Complex Diseases. Translational Bioinformatics, vol 4. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-7975-4_1

Download citation

Publish with us

Policies and ethics

Search

Navigation