Targeted mutation detection in breast cancer using MammaSeq™
Nicholas G Smith1, Rekha Gyanchandani1, Osama S Shah2
1Department of Pharmacology and Chemical Biology, and Human Genetics, UPMC Hillman Cancer Center, Magee-Womens Research Institute, University of Pittsburgh, 204 Craft Avenue, Pittsburgh, PA, 15213, USA.
Breast Cancer Research : BCR
|February 10, 2019
Summary
MammaSeq, a new next-generation sequencing (NGS) panel, identifies actionable mutations in breast cancer patients. This targeted approach aids clinical decision-making by detecting key genomic alterations in both solid tumors and circulating tumor DNA (ctDNA).
Area of Science:
- Oncology
- Genomics
- Molecular Biology
Background:
- Breast cancer is a leading global cancer in women.
- Next-generation sequencing (NGS) is transforming cancer research but clinical application is limited.
- Advances in NGS technology are increasing its feasibility for clinical decision-making.
Purpose of the Study:
- To develop and validate MammaSeq, a breast cancer-specific NGS panel.
- To assess the panel's ability to detect clinically actionable mutations.
- To evaluate the utility of MammaSeq in both primary and metastatic breast cancer.
Main Methods:
- Developed MammaSeq, a targeted NGS panel for 79 breast cancer genes.
- Sequenced 46 solid tumors and 14 ctDNA samples with high depth.
- Utilized OncoKB for actionable variant annotation and ddPCR for ctDNA validation.
Main Results:
- Identified 592 and 43 protein-coding mutations in solid tumors and ctDNA, respectively.
- Detected 26 clinically actionable variants (OncoKB levels 1-3) in 40% of solid tumors.
- MammaSeq detected actionable mutations in 48% of solid tumors and 29% of ctDNA samples.
Conclusions:
- MammaSeq is a targeted NGS panel for detecting actionable mutations in breast cancer.
- The panel demonstrates suitability for clinical application in breast cancer genomic testing.
- MammaSeq aids in identifying key mutations for personalized treatment strategies.
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