Ashion Analytics to Present Data on the Value of Comprehensive Genomic Profiling of Gastrointestinal Cancers by Utilizing the GEM ExTra® Test
PHOENIX, Jan. 15, 2021 /PRNewswire/ — Ashion Analytics LLC, a CLIA-certified and CAP-accredited clinical laboratory announced today that they will present data at the 2021 American Society for Clinical Oncology Gastrointestinal (ASCO GI) virtual meeting.
Session Title: Colorectal Cancer
Date: January 15, 2021; Release Time: 8 am EST
Title: Genomic profiling of gastrointestinal cancers by comprehensive tumor-normal sequencing
Authors: Fadel S. Alyaqoub, Pawan Noel, Szabolcs Szelinger, Thanemozhi G. Natarajan, Susan M. Dombrowski, Audrey A. Ozols, Laurie J. Goodman, Janine LoBello, Thomas Royce, Gargi D. Basu
Background: Gastrointestinal cancers (GIC) account for 26% of global cancer incidence and 35% of cancer-related deaths. We investigated the molecular landscape and therapeutic targets across 22 types of GIC using whole exome (WES) and whole transcriptome sequencing (WTS).
Methods: GEM ExTra® assay was performed on 844 paired samples (ages 18-90 years, median= 61 years). Targeted sequence coverage was 180X for germline DNA and 400X for tumor DNA. Reportable somatic alterations included single base substitutions, indels, Copy Number Alterations, gene fusions, alternate transcripts, as well as tumor mutational burden (TMB) and microsatellite instability (MSI) status. Germline subtraction identified somatic-specific alterations.
Results: Analysis of 844 GIC patient samples, including esophageal, gastric cancer (GC), biliary tract (BT), pancreatic cancer (PC), colorectal cancer (CRC), and other cancers. The median number of alterations was 3 per GIC patient. The 5 most common actionable alterations were in APC, KRAS, CDKN2A, ARID1A and PIK3CA. Activation of Wnt signaling was found in 344/844 (40.8%), with the majority being in CRC cases. Alterations in cell cycle genes including TP53, CDKN2A, CDK4/6 and others were noted in 520/844 (61.6%) cases and in 129/844 (15.3%) excluding TP53 alterations, suggesting benefit from CDK4/6 inhibitors. Alterations in DNA damage repair genes were noted in 66/844 (7.9%) cases. Activation of PI3K/PTEN/Akt/mTOR pathway was noted in 183/844 (17%), with the majority harbored in CRC, suggesting benefit from targeting this pathway. ERBB2 amplification and mutations were noted in 41/844 (4.9%) across different GIC tumor types. Alterations in homologous recombination genes predicting platinum and PARP inhibitor response was noted in 167/844 (19.8%) samples distributed across GIC subtypes. KRAS (G12C) mutation was found in 21/324 (6.5%) of the combined PC and CRC tumors, thus allowing patients to enroll in clinical trials with G12C-specific inhibitors. Most cases with MSI- and TMB-high status were identified in GC and CRC tumors and may be predictive of response to immunotherapy. WTS identified actionable fusions, including FGFR1/2/3 and novel NRG1 fusions in BT cancers.
Conclusions: Our study revealed actionable targets used in patient selection for precision therapies, in addition to other mutational profiles of clinical significance. Overall, comprehensive genomic profiling enabled detection of established and novel actionable alterations, including fusions, which may have gone undetected using hotspot panels.
“Our study provides a comprehensive analysis of molecular signatures across 22 different gastrointestinal cancers using whole exome and whole transcriptome analysis. Further, the highly sensitive GEM ExTra assay utilizing tumor and matched normal samples maximizes detection of rare actionable alterations therapy providing treatment options for targeted therapy as well as immunotherapy across gastrointestinal cancers,” said Gargi D. Basu, Ph.D., Ashion Analytics Senior Director of Clinical Curation.
About Ashion Analytics LLC
Ashion Analytics LLC is a CLIA-certified and CAP-accredited clinical laboratory that uses advanced genomic technologies to offer a wide range of testing capabilities, including GEM ExTra to assist physicians in providing options for precision cancer treatments. Ashion was developed and launched by the Translational Genomics Research Institute (TGen), an affiliate of City of Hope. TGen is a pioneer in the use of genomics to identify treatment options for cancer patients.
About TGen, an affiliate of City of Hope
Translational Genomics Research Institute (TGen) is a Phoenix, Arizona-based non-profit organization dedicated to conducting groundbreaking research with life-changing results. TGen is affiliated with City of Hope, a world-renowned independent research and treatment center for cancer, diabetes and other life-threatening diseases: www.cityofhope.org. This precision medicine affiliation enables both institutes to complement each other in research and patient care, with City of Hope providing a significant clinical setting to advance scientific discoveries made by TGen. TGen is focused on helping patients with neurological disorders, cancer, diabetes and infectious diseases through cutting-edge translational research (the process of rapidly moving research toward patient benefit). TGen physicians and scientists work to unravel the genetic components of both common and complex rare diseases in adults and children. Working with collaborators in the scientific and medical communities worldwide, TGen makes a substantial contribution to help our patients through efficiency and effectiveness of the translational process. For more information, visit: www.tgen.org. Follow TGen on Facebook, LinkedIn and Twitter @TGen.
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