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Mutation Yield of a 34-Gene Solid Tumor Panel in Community-Based Tumor Samples
Heather Sanders1, Kevin Qu2, Hairong Li2
1Department of Hematology and Oncology, Quest Diagnostics Nichols Institute, 33608 Ortega Highway, San Juan Capistrano, CA, 92675, USA. heather.r.sanders@questdiagnostics.com.
Molecular Diagnosis & Therapy
|April 17, 2016
Summary
A novel 34-gene next-generation sequencing (NGS) panel identified additional mutations in 74% of solid tumor specimens. This comprehensive profiling enhances detection of clinically relevant gene mutations for targeted cancer therapies.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Targeted therapies are approved for solid tumors, with gene mutation identification rapidly advancing.
- Routine molecular testing has limitations in detecting all relevant mutations.
Purpose of the Study:
- To evaluate a 34-gene next-generation sequencing (NGS) panel for detecting additional mutations in community-based solid tumor specimens.
- To compare NGS performance against routine molecular testing.
Main Methods:
- 121 de-identified clinical specimens from melanoma, lung, colorectal, and breast cancer cases were profiled using the 34-gene NGS panel.
- NGS results were compared with initial routine molecular testing findings.
Main Results:
- NGS detected at least one additional mutation in 74% of specimens (90/121) not found by routine testing.
- 16 specimens had additional mutations in National Comprehensive Cancer Network guideline genes.
- TP53 mutations were found in 51% of tumors, and other gene mutations in 64% of cases.
Conclusions:
- The developed NGS assay offers improved breadth and sensitivity for profiling clinically relevant genes in common solid tumors.
- This enhanced profiling aids in identifying patients who may benefit from targeted therapies.
