High Throughput Protein Truncation Test for Breast Cancer
Author Information
Author(s): Lim Mark J, Foster Gabriel J, Gite Sadanand, Ostendorff Heather P, Narod Steven, Rothschild Kenneth J
Primary Institution: AmberGen, Inc.
Hypothesis
The next generation HTS-PTT can effectively analyze BRCA1/2 mutations in clinical genomic DNA samples.
Conclusion
The HTS-PTT provides a simple, low-cost, and high-throughput method for analyzing truncating mutations in BRCA1/2.
Supporting Evidence
- 100% diagnostic sensitivity and 96% specificity for truncating mutations were achieved.
- The HTS-PTT method is accessible to virtually any laboratory.
- Full gene coverage for BRCA1/2 using mRNA source material was demonstrated.
- The assay avoids the use of radioactivity and subjective interpretation of results.
- HTS-PTT provides excellent concordance compared to conventional gel-based PTT.
Takeaway
This study created a new test that helps find mutations in breast cancer genes quickly and cheaply, making it easier for labs to use.
Methodology
The study used PCR amplification of BRCA1/2 exons followed by a high-throughput solid-phase protein truncation test (HTS-PTT) to analyze truncating mutations.
Potential Biases
Potential bias due to the reliance on previously characterized samples for comparison.
Limitations
The study primarily focused on exons 11 of BRCA1/2 and may not cover all possible mutations.
Participant Demographics
The study involved 100 clinical genomic DNA samples from blood, including 25 BRCA1 mutants, 25 BRCA2 mutants, and 50 normal controls.
Statistical Information
P-Value
0.0001
Confidence Interval
99%
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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