Skip to main content
SpringerLink
Log in

Recent Advances in Molecular Diagnostic Approaches for Cancer

  • Chapter
  • First Online:
Molecular Diagnostics in Cancer Patients

Abstract

Globally cancer is considered as a disease of high morbidity and mortality, which includes a group of diseases having uncontrolled cell growth and proliferation. Most cancers are curable if detected at an early stage. Although it is challenging but an advances in molecular biomarkers and methods, early detection and diagnosis of cancer could be possible. The various genomic and proteomic tools are being used for identification of molecular signatures like genetic, epigenetic changes in gene expressions and protein expression. These approaches may help to detect risk of cancer and monitor therapy. Molecular diagnosis unravels different changes that occur during the transformation of a normal to tumour cells and capture information as expression patterns. Molecular techniques such as real-time PCR, DNA sequencing and microarrays being used extensively for early diagnosis of cancer. This chapter summarizes various techniques and molecular biomarkers for early diagnosis of cancer, which would help to predict cancer and development of new-targeted therapies.

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

  1. World Health Organization. Cancer Fact sheet N°297. February 2018. Accessed 21 Mar 2018.

    Google Scholar 

  2. National Cancer Institute. Defining cancer. Accessed 28 Mar 2018.

    Google Scholar 

  3. Nebbioso A, Tambaro FP, Dell’Aversana C, Altucci L. Cancer epigenetics: moving forward. PLoS Genet. 2018;14(6):e1007362.

    Article  PubMed  PubMed Central  Google Scholar 

  4. Balmain A, Gray J, Ponder B. The genetics and genomics of cancer. Nat Genet. 2003;33:238–44.

    Article  CAS  PubMed  Google Scholar 

  5. McClelland SE. Role of chromosomal instability in cancer progression. Endocr Relat Cancer. 2017;24(9):T23–31.

    Article  CAS  PubMed  Google Scholar 

  6. Tomasetti C, Li L, Vogelstein B. Stem cell divisions, somatic mutations, cancer etiology, and cancer prevention. Science. 2017;355(6331):1330–4.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. Emery J, Barlow-Stewart K, Metcalfe SA. There’s cancer in the family. Aust Fam Physician. 2009;38(4):194–8.

    PubMed  Google Scholar 

  8. Rhine CL, Cygan KJ, Soemedi R, Maguire S, Murray MF, Monaghan SF, Fairbrother WG. Hereditary cancer genes are highly susceptible to splicing mutations. PLoS Genet. 2018;14(3):e1007231.

    Article  PubMed  PubMed Central  Google Scholar 

  9. Forbes SA, Beare D, Gunasekaran P, Leung K, Bindal N, Boutselakis H, Ding M, Bamford S, Cole C, Ward S, Kok CY, Jia M, De T, Teague JW, Stratton MR, McDermott U, Campbell PJ. COSMIC: exploring the world’s knowledge of somatic mutations in human cancer. Nucleic Acids Res. 2015;43:D805–D81.

    Article  CAS  PubMed  Google Scholar 

  10. Simonati C1, Limina RM, Gelatti U, Indelicato A, Scarcella C, Donato F, Nardi G. Cancer incidence and mortality in some health districts in Brescia area 1993–1995. Ann Ig. 2004;16(6):767–75.

    CAS  PubMed  Google Scholar 

  11. Boroughs LK, DeBerardinis RJ. Metabolic pathways promoting cancer cell survival and growth. Nat Cell Biol. 2015;17:351–9.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  12. Idikio HA. Human cancer classification: a systems biology-based model integrating morphology, cancer stem cells, proteomics, and genomics. J Cancer. 2011;2:107–15.

    Article  PubMed  PubMed Central  Google Scholar 

  13. Wilt TJ, Harris RP, Qaseem A, High Value Care Task Force of the American College of Physicians. Screening for cancer: advice for high-value care from the American College of Physicians. Ann Intern Med. 2015;162(10):718–25.

    Article  PubMed  Google Scholar 

  14. Weitzel JN, Blazer KR, MacDonald DJ, Culver JO, Offit K. Genetics, genomics, and cancer risk assessment: state of the art and future directions in the era of personalized medicine. CA Cancer J Clin. 2011;61(5):327–59.

    PubMed  PubMed Central  Google Scholar 

  15. Baron JA. Screening for cancer with molecular markers: progress comes with potential problems. Nat Rev Cancer. 2012;12(5):368–71.

    Article  CAS  PubMed  Google Scholar 

  16. Shukla KK, Misra S, Pareek P, Mishra V, Singhal B, Sharma P. Recent scenario of microRNA as diagnostic and prognostic biomarkers of prostate cancer. Urol Oncol. 2017;35(3):92–101.

    Article  CAS  PubMed  Google Scholar 

  17. Saijo K, Ishioka C. Development of biomarkers for molecular target drugs. Nihon Rinsho. 2015;73(8):1308–12.

    PubMed  Google Scholar 

  18. Leroy B, Anderson M, Soussi T. TP53 mutations in human cancer: database reassessment and prospects for the next decade. Hum Mutat. 2014;35(6):672–88.

    Article  CAS  PubMed  Google Scholar 

  19. Li D, Kumaraswamy E, Harlan-Williams LM, Jensen RA. The role of BRCA1 and BRCA2 in prostate cancer. Front Biosci (Landmark Ed). 2013;18:1445–59.

    Article  CAS  Google Scholar 

  20. Foulkes WD. BRCA1 and BRCA2 - update and implications on the genetics of breast cancer: a clinical perspective. Clin Genet. 2014;85(1):1–4.

    Article  CAS  PubMed  Google Scholar 

  21. Poliseno L, Pandolfi PP. PTEN ceRNA networks in human cancer. Methods. 2015;77-78:41–50.

    Article  CAS  PubMed  Google Scholar 

  22. Krebs MG, Metcalf RL, Carter L, Brady G, Blackhall FH, Dive C. Molecular analysis of circulating tumour cells-biology and biomarkers. Nat Rev Clin Oncol. 2014;11(3):129–44.

    Article  CAS  PubMed  Google Scholar 

  23. Wang B, Yu L, Yang GZ, Luo X, Huang L. Application of multiplex nested methylated specific PCR in early diagnosis of epithelial ovarian cancer. Asian Pac J Cancer Prev. 2015;16(7):3003–7.

    Article  PubMed  Google Scholar 

  24. Zhao Y, Cao X, Tang J, Zhou L, Gao Y, Wang J, Zheng Y, Yin S, Wang Y. A novel multiplex real-time PCR assay for the detection and quantification of HPV16/18 and HSV1/2 in cervical cancer screening. Mol Cell Probes. 2012;26(2):66–72.

    Article  PubMed  Google Scholar 

  25. Mandhaniya S, Iqbal S, Sharawat SK, Xess I, Bakhshi S. Diagnosis of invasive fungal infections using real-time PCR assay in paediatric acute leukaemia induction. Mycoses. 2012 Jul;55(4):372–9.

    Article  PubMed  Google Scholar 

  26. Tipu HN, Shabbir A. Evolution of DNA sequencing. J Coll Physicians Surg Pak. 2015;25(3):210–5.

    PubMed  Google Scholar 

  27. Boyd SD. Diagnostic applications of high-throughput DNA sequencing. Annu Rev Pathol. 2013;8:381–410.

    Article  CAS  PubMed  Google Scholar 

  28. Inaoka K, Inokawa Y, Nomoto S. Genomic-wide analysis with microarrays in human oncology. Microarrays (Basel). 2015;4(4):454–73.

    Article  CAS  Google Scholar 

  29. Sekar D, Thirugnanasambantham K, Hairul Islam VI, Saravanan S. Sequencing approaches in cancer treatment. Cell Prolif. 2014;47(5):391–5.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  30. Ferguson-Smith MA. History and evolution of cytogenetics. Mol Cytogenet. 2015;8:19.

    Article  PubMed  PubMed Central  Google Scholar 

  31. Manola KN. Cytogenetic abnormalities in acute leukaemia of ambiguous lineage: an overview. Br J Haematol. 2013;163(1):24–39.

    Article  PubMed  Google Scholar 

  32. García-Peláez B, Trias I, Román R, Pubill C, Banús JM, Puig X. Fluorescent in situ hybridization as a predictor of relapse in urothelial carcinoma. Actas Urol Esp. 2013;37(7):395–400.

    Article  PubMed  Google Scholar 

  33. Van der Logt EM, Kuperus DA, van Setten JW, van den Heuvel MC, Boers JE, Schuuring E, Kibbelaar RE. Fully automated fluorescent in situ hybridization (FISH) staining and digital analysis of HER2 in breast cancer: a validation study. PLoS One. 2015;10(4):e0123201.

    Article  PubMed  PubMed Central  Google Scholar 

  34. Ho DW, Yang ZF, Wong BY, Kwong DL, Sham JS, Wei WI, Yuen AP. Surface-enhanced laser desorption/ionization time-of-flight mass spectrometry serum protein profiling to identify nasopharyngeal carcinoma. Cancer. 2006;107(1):99–107.

    Article  CAS  PubMed  Google Scholar 

  35. Yang SY, Xiao XY, Zhang WG, Zhang LJ, Zhang W, Zhou B, Chen G, He DC. Application of serum SELDI proteomic patterns in diagnosis of lung cancer. BMC Cancer. 2005;5:83.

    Article  PubMed  PubMed Central  Google Scholar 

  36. Zhang GQ, Du J, Pang D. Detection and clinical significance of serum proteomic patterns of breast cancers by surface enhanced laser desorption/ionization time of flight mass spectrometry. Zhonghua Zhong Liu Za Zhi. 2006;28(3):204–7.

    PubMed  Google Scholar 

  37. Reubi JC. Regulatory peptide receptors as molecular targets for cancer diagnosis and therapy. Q J Nucl Med. 1997;41(2):63–70.

    CAS  PubMed  Google Scholar 

  38. Wang W, Nag S, Zhang R. Pharmacokinetics and pharmacodynamics in breast cancer animal models. Methods Mol Biol. 2016;1406:271–87.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  39. Lee W, Lockhart AC, Kim RB, Rothenberg ML. Cancer pharmacogenomics: powerful tools in cancer chemotherapy and drug development. Oncologist. 2005;10(2):104–11.

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Biochemistry, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India

    Kamla Kant Shukla, Shrimanjunath Sankanagoudar & Praveen Sharma

  2. Centre for Transplant and Renal Research, Westmead Institute for Medical Research, Westmead, NSW, Australia

    Barkha Singhal Sanganeria

  3. Department of Radiation Oncology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India

    Puneet Pareek

  4. Department of Surgical Oncology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India

    Jeevan Ram & Sanjeev Misra

Authors
  1. Kamla Kant Shukla
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Shrimanjunath Sankanagoudar
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Barkha Singhal Sanganeria
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Puneet Pareek
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Jeevan Ram
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Sanjeev Misra
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Praveen Sharma
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Kamla Kant Shukla .

Editor information

Editors and Affiliations

  1. Department of Biochemistry, All India Institute of Medical Sciences, Jodhpur, India

    Kamla Kant Shukla

  2. Department of Biochemistry, All India Institute of Medical Sciences, Jodhpur, India

    Praveen Sharma

  3. Department of Surgical Oncology, All India Institute of Medical Sciences, Jodhpur, India

    Sanjeev Misra

Rights and permissions

Reprints and permissions

Copyright information

© 2019 Springer Nature Singapore Pte Ltd.

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Shukla, K.K. et al. (2019). Recent Advances in Molecular Diagnostic Approaches for Cancer. In: Shukla, K., Sharma, P., Misra, S. (eds) Molecular Diagnostics in Cancer Patients. Springer, Singapore. https://doi.org/10.1007/978-981-13-5877-7_1

Download citation

  • DOI: https://doi.org/10.1007/978-981-13-5877-7_1

  • Published:

  • Publisher Name: Springer, Singapore

  • Print ISBN: 978-981-13-5876-0

  • Online ISBN: 978-981-13-5877-7

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation