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Genomic Health Announces Results from Two Studies Demonstrating Innovations in Next Generation Sequencing From Paraffin Tissue, Enhancing Understanding of Tumor Biology
Date:2/25/2013

trand-of-origin of RNA sequencing data can be limited in their accuracy in assigning reads to human genes.  Therefore, to perform this study, Genomic Health scientists developed a proprietary NGS and bioinformatics approach to produce a more definite specification of the strand-of-origin of the RNA transcript.  The application of this method enabled more precise detection of expressed genes that were significantly associated with breast cancer recurrence, and permitted the identification of 228 additional candidate genes associated recurrence risk in breast cancer.

Enabling Detection of Tumor Specific Mutations Using FPET to Improve Precision of Cancer Diagnosis

  • Reliable differentiation between inherited variations in DNA (germline mutations) and tumor specific variations in DNA (somatic mutations) plays a key role in determining the accuracy and precision of cancer genome sequencing.  However, optimally, determination of germline mutations requires the presence of the blood samples in addition to the FPET specimen.  This new study showed that by utilizing Genomic Health's proprietary NGS methods to analyze archival FPET specimens, the company can now reliably detect germline variants and tumor specific mutations when the patient's blood sample is not available.

As part of this study, 190 frequently mutated cancer genes were sequenced using the Illumina HiSeq™ 2000 System from FPET blocks, analyzing both the patient's tumor tissue and adjacent non-tumor tissue. Similar sequence analysis was performed on patient-matched blood samples. Readily-available adjacent non-tumor tissue in the FPET specimen was a sufficient alternate source of germline variants to enable the accurate detection of cancer-specific somatic mutations in the tumor.

"Individual patients have an abundance of unique somatic mutations which underscores the heterogeneity of cancer
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SOURCE Genomic Health, Inc.
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