Geneseeq Technology Inc. will be presenting a number of our own and collaborative studies during the 2020 American Association for Cancer Research (AACR) Virtual Annual Meeting II, June 22 to June 24. Geneseeq will present 10 studies in the form of E-posters, detailing findings in New Technologies and Translational Research, Genomic Profiling of Tumors, Circulating/Diagnostic Markers and Late-Breaking Research sections. Geneseeq is a pioneer in cancer genomic profiling and translational research, and our R&D efforts continue to be at the forefront, innovating and fueling scientific breakthroughs in cancer research.

Highlights of our studies include:

Circulating Markers/New Technologies

  • Validation of NGS gene panel assessed blood tumor mutational burden (bTMB) showed that it is a promising biomarker that demonstrates additional benefits over tumor tissue testing alone to inform anti-PD-(L)-1 therapy decisions. This is the first clinical evidence suggesting that matched tissue and blood testing might be necessary to refine the predictive value of TMB. We further identified low ctDNA MSAF (maximum somatic allele frequency) as an important and robust predictor of improved immunotherapy outcomes (Abstract #707);
  • Blood microsatellite instability (bMSI) assessment using the signal enhancing MSI analysis algorithm demonstrated high proficiency at improving the signal-to-noise ratio, and offered a cost-effective and non-invasive alternative for MSI testing when tumor sample is not available (Abstract #730);
  • Technical validation of a dedicated NGS panel designed to interrogate the mutational status of BRCA1/2 and 18 other homologous recombination deficient (HRD)-related genes, featuring a noise-reduction model for accurate exon-level copy number variation (CNV) detection, accurately determines large genomic rearrangement (LGR) of the targeted gene within a small size gene panel (Abstract #4268).

Genomic Profiling of Tumors/Diagnostic Markers

  • Genomic landscape and clinical characteristics of MET exon14 (Abstract #1324), ROS1 rearrangement (Abstract #741) and FGFR alterations (Abstract #745) in a large Chinese cancer patient cohort;
  • An increased incidence of multifocal lung cancers (MFLCs) have been observed due to advances in CT screening. Whole exome sequencing helps elucidate the clonal heterogeneity and evolution of different pulmonary nodules, and discriminate synchronous multiple primary lung cancers from intrapulmonary metastasis that may be relevant to a patient’s clinical outcome (Abstract #5887);
  • Investigation of the NGS-captured genomic landscape of pylori associated gastric cancer reveals the distinct genomic signature of this subtype (Abstract #5439);
  • Novel actionable mutations identified in sarcomatoid carcinoma patients with KRAS mutations are biomarkers of poor prognosis (Abstract #5308).

Late-Breaking Research

  • Comprehensive genomic analysis of liver cirrhosis (LC), dysplastic liver nodules (DN) and hepatocellular carcinoma (HCC) reveals that HCC is a dynamically developing disease characterized by punctuated evolution of mutations in short bursts, followed by subclonal diversification driven by somatic copy number alterations (SCNAs) (Abstract #LB-309).

The following is a list of our studies that will be presented as E-Posters during the meeting. To access the full abstracts for more details, please visit:

Abstract # Title
5439/17 Distinct genomic profile in H. pylori associated gastric cancer
707/1 Combinatorial assessment of ctDNA release and mutational burden predicts

clinical outcome from anti-PD-(L)1 therapies in non-small-cell lung cancer

1324/19 Genomic and clinical characteristics of MET exon14 alterations in 26,391 Chinese cancer patients
5887/7 Clonal heterogeneity and evolution of multifocal lung cancers revealed by whole exome sequencing to facilitate molecular diagnosis of multiple primary lung cancers
745/9 Landscape of FGFR activating aberrations in Chinese non-small cell lung cancer
5308/17 Genetic characterization of sarcomatoid carcinomas reveals multiple novel actionable mutations and identifies KRAS mutation as a biomarker of poor prognosis
730/24 Validation of a NGS-based MSI testing workflow in liquid biopsy
4268/22 Technical validation of a NGS-based analysis pipeline for BRCA1/2 variants and large genomic rearrangements detection
741/5 Molecular and clinicopathological characteristics of Chinese non-small cell lung cancers with ROS1 gene fusions identified by next-generation sequencing
LB-309/15 Comprehensive genomic insights into dynamic mechanism underlying the development of non-malignant human liver disease into hepatocellular carcinoma

About Geneseeq

Geneseeq is a research-driven company providing cutting-edge NGS technology to accelerate precision cancer care. We offer both pan-cancer panels analyzing 400+ genes and cancer-type specific gene panels to help match patients to optimal treatments, including targeted therapy and immunotherapy. We have 1000+ research projects with biopharma and research partners, providing high-quality genomic data to accelerate translational research. Our headquarters are located in Canada and China. Our CAP/CLIA-accredited Chinese site is equipped with multiple advanced NGS sequencing platforms and has sequenced 310,000+ clinical samples. For more information, please visit or follow Geneseeq on Linkedin and Twitter.