Research ArticleCancer Genetics

Development of Personalized Tumor Biomarkers Using Massively Parallel Sequencing

Science Translational Medicine  24 Feb 2010:
Vol. 2, Issue 20, pp. 20ra14
DOI: 10.1126/scitranslmed.3000702

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PARE Personalizes Cancer Genetics

A diagnosis of cancer shatters the view of the world in an individual’s mind. A world that once moved as comfortably as the pace of one’s own life suddenly moves all too quickly. The individual starts asking questions and searching for possible remedies, and soon learns about the shockingly slow pace of successful cancer research. In the case of solid tumors, conventional surgical excision blanketed with “one size fits all” drug treatments simply fails to be universally effective in the long term. Cancer research has begun to shift to a more focused, personal approach that involves tailoring therapies directly to the complexity inherent in each individual—an area that holds considerable promise. But the differences among individuals are not the only layer of complexity hindering effective treatment. The intrinsic differences that accumulate over the course of tumor progression among similar tumor types hold the key to unlocking a truly personal remedy, a barcode, to cancer.

Now, Leary et al. make use of a massively parallel sequencing technique—personalized analysis of rearranged ends (PARE)—to home in on the unique DNA rearrangements present in tumors that differ from the rearrangements present in nontumor DNA from a small subset of individuals. They provide evidence for a highly sensitive, reliable, and cost-effective method, a foundation from which the annotation of large numbers of such tumor signatures will yield a personal cancer code. In an arena that takes small steps, PARE offers a leap forward in the clinical management and treatment of solid tumors, revealing true biomarkers that enable monitoring of individual tumor progression, tailoring of response to therapeutic treatment, and identification of residual disease at a level previously undetectable by current methods.


  • Citation: R. J. Leary, I. Kinde, F. Diehl, K. Schmidt, C. Clouser, C. Duncan, A. Antipova, C. Lee, K. McKernan, F. M. De La Vega, K. W. Kinzler, B. Vogelstein, L. A. Diaz Jr., V. E. Velculescu, Development of personalized tumor biomarkers using massively parallel sequencing. Sci. Transl. Med. 2, 20ra14 (2010).