Skip to main content

Thank you for visiting You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

The emergence of cancer genomics in diagnosis and precision medicine

Rapid progress in the molecular characterization of cancer genomes has been enabled by technology and computational analysis, and large databases now exist. Novel cancer therapeutics have resulted that more precisely target the vulnerabilities revealed by genomic analysis. Emergent efforts that link the two, using machine learning approaches and circulating DNA from cancer cells, are furthering cancer diagnosis and precision medicine.

This is a preview of subscription content, access via your institution

Access options

Buy article

Get time limited or full article access on ReadCube.


All prices are NET prices.


  1. International Human Genome Sequencing Consortium. Nature 431, 931–945 (2004).

    Article  Google Scholar 

  2. Sjöblom, T. et al. Science 314, 268–274 (2006).

    Article  Google Scholar 

  3. Pao, W. et al. Proc. Natl Acad. Sci. USA 101, 13306–13311 (2004).

    Article  CAS  Google Scholar 

  4. Paez, J. G. et al. Science 304, 1497–1500 (2004).

    Article  CAS  Google Scholar 

  5. Lynch, T. J. et al. N. Engl. J. Med. 350, 2129–2139 (2004).

    Article  CAS  Google Scholar 

  6. Blum, A., Wang, P. & Zenklusen, J. C. Cell 173, 530 (2018).

    Article  CAS  Google Scholar 

  7. Stubbington, M. J. T., Rozenblatt-Rosen, O., Regev, A. & Teichmann, S. A. Science 358, 58–63 (2017).

    Article  CAS  Google Scholar 

  8. Lim, B., Lin, Y. & Navin, N. Cancer Cell 37, 456–470 (2020).

    Article  CAS  Google Scholar 

  9. Mattox, A. K. et al. Sci. Transl. Med. 11, eaay1984 (2019).

    Article  Google Scholar 

  10. Ignatiadis, M., Sledge, G. W. & Jeffrey, S. S. Nat. Rev. Clin. Oncol. 18, 297–312 (2021).

    Article  Google Scholar 

  11. Serrano, M. J. et al. Cancer Discov. 10, 1635–1644 (2020).

    Article  Google Scholar 

  12. Mathios, D. et al. Nat. Commun. 12, 5060 (2021).

    Article  CAS  Google Scholar 

  13. Mouliere, F. et al. EMBO Mol. Med. 13, e12881 (2021).

    Article  CAS  Google Scholar 

  14. Liu, X. S. & Mardis, E. R. Cell 168, 600–612 (2017).

    Article  CAS  Google Scholar 

  15. Powles, T. et al. Nature 595, 432–437 (2021).

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations


Corresponding author

Correspondence to Elaine R. Mardis.

Ethics declarations

Competing interests

The author declares no competing interests.

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Mardis, E.R. The emergence of cancer genomics in diagnosis and precision medicine. Nat Cancer 2, 1263–1264 (2021).

Download citation

  • Published:

  • Issue Date:

  • DOI:

This article is cited by


Quick links

Nature Briefing: Cancer

Sign up for the Nature Briefing: Cancer newsletter — what matters in cancer research, free to your inbox weekly.

Get what matters in cancer research, free to your inbox weekly. Sign up for Nature Briefing: Cancer