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Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
Published on: October 18, 2013
Development of personalized tumor biomarkers using massively parallel sequencing
Rebecca J Leary1, Isaac Kinde, Frank Diehl
1Ludwig Center for Cancer Genetics and Therapeutics and Howard Hughes Medical Institute, Johns Hopkins Kimmel Cancer Center, Baltimore, MD 21231, USA.
Science Translational Medicine
|April 8, 2010
Summary
A new method, personalized analysis of rearranged ends (PARE), detects cancer translocations in solid tumors. This highly sensitive technique identifies tumor DNA in patient plasma for improved cancer monitoring.
Area of Science:
- Oncology
- Genomics
- Molecular Diagnostics
Background:
- Accurate monitoring of residual and recurrent tumors is crucial for cancer management.
- Patient-specific translocations are key diagnostic markers in leukemias and lymphomas.
Purpose of the Study:
- To develop a sensitive method for identifying translocations in solid tumors.
- To establish personalized biomarkers for enhanced cancer patient management.
Main Methods:
- Development of personalized analysis of rearranged ends (PARE) method.
- Massively parallel sequencing of colorectal and breast cancer samples.
- Polymerase chain reaction (PCR) for breakpoint detection and circulating DNA analysis.
Main Results:
- PARE identified an average of nine rearranged sequences per solid tumor.
- PCR detected mutant DNA at levels below 0.001%.
- Mutated circulating DNA was successfully identified in patient plasma samples.
Conclusions:
- PARE offers a sensitive and broadly applicable approach for translocation detection in solid tumors.
- This method enables the development of personalized biomarkers for clinical cancer management.
- The detection of circulating tumor DNA in plasma facilitates non-invasive monitoring.
