The 16 common CNVs between cancers can be used to identify the target of pan-cancer drug design and targeted therapies. Additionally, 22 caner-specific CNVs can be used as unique diagnostic markers for each cancer type.

2 years ago

Journal • PARP Biomarker • Next-generation sequencing

HER-2 (Human epidermal growth factor receptor 2) • MYD88 (MYD88 Innate Immune Signal Transduction Adaptor) • KEAP1 (Kelch Like ECH Associated Protein 1) • TOP2A (DNA topoisomerase 2-alpha) • FLT1 (Fms-related tyrosine kinase 1) • MECOM (MDS1 And EVI1 Complex Locus) • FOXA1 (Forkhead Box A1) • EPHB1 (EPH Receptor B1) • NFKBIA (NFKB Inhibitor Alpha 2) • HEY1 (Hes Related Family BHLH Transcription Factor With YRPW Motif 1) • PARP3 (Poly(ADP-Ribose) Polymerase Family Member 3)

Onco PanScan™

over2years

Validation and benchmarking of targeted panel sequencing for cancer genomic profiling. (PubMed)

This study presents a detailed validation framework and empirical recommendations for large panel validation and elucidates the sources of discordant alteration calls by comparing with "gold standard measures.".

over 2 years ago

Journal • Tumor mutational burden

Onco PanScan™

over2years

Pathogenic genomic alterations in Chinese pancreatic cancer patients and their therapeutical implications. (PubMed, Cancer Med)

Our results demonstrated that a genetic screen of actionable genomic variants could facilitate precision therapy and cancer risk reduction in pancreatic cancer patients of Asian ethnicity.

over 2 years ago

Journal • PARP Biomarker • BRCA Biomarker

EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MAP2K1 (Mitogen-activated protein kinase kinase 1) • ARID1A (AT-rich interaction domain 1A) • PALB2 (Partner and localizer of BRCA2) • RNF43 (Ring Finger Protein 43) • SMAD4 (SMAD family member 4)

TP53 mutation • KRAS mutation • EGFR mutation • KRAS G12C • BRAF mutation • HER-2 mutation • ARID1A mutation • KRAS wild-type • RAS wild-type • KRAS G12 • RNF43 mutation • SMAD4 mutation

Onco PanScan™

3years

Identification of MET Fusions in Solid Tumors: A MultiCenter, Large Scale Study in China (AMP 2022)

We provided a comprehensive genomic landscape of MET rearrangement and updated MET fusions database for clinical test. In addition, we revealed that DNA-based NGS might meet the clinical test for MET common fusions, whereas it was necessary to validate MET rare fusions by both DNA-based NGS and RNA-based NGS. Prospective trials are necessary to confirm the efficacy of MET inhibitors treatment.

3 years ago

Clinical

PTPRZ1 (Protein Tyrosine Phosphatase Receptor Type Z1)

MET amplification • MET exon 14 mutation • MET fusion

Onco PanScan™

3years

The Landscape of Somatically Actionable Genes Identified by DNA-NGS in Chinese Melanoma Patients (AMP 2022)

In summary, we present the druggable mutation landscape of 469 Chinese melanoma patients, and our work provides a workable translational genome-driven precision oncology strategy in melanoma patients, demonstrating the potential of individualized treatment for this rare but intractable disease.

3 years ago

Clinical • Tumor mutational burden • MSi-H Biomarker • Next-generation sequencing

BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • TMB (Tumor Mutational Burden) • NRAS (Neuroblastoma RAS viral oncogene homolog) • MSI (Microsatellite instability) • NF1 (Neurofibromin 1) • NRG1 (Neuregulin 1) • MDM2 (E3 ubiquitin protein ligase) • CDK4 (Cyclin-dependent kinase 4)

TMB-H • MSI-H/dMMR • BRAF mutation • NRAS mutation • NF1 mutation • MDM2 amplification • NRG1 fusion • BRAF fusion • CDK4 amplification • MDM2 amplification + CDK4 amplification

Onco PanScan™

3years

Characteristics of Patients with Multiorgan Primary Cancers Based on NGS Detection (AMP 2022)

Compared to previous reporting, patients with MOPMNs in this study were more diverse in cancer pairs, although the surgery ratio was similar. NGS was helpful in determining MOPMNs, but ctDNA could not detect the mutations of each primary tumor well. Personalized ctDNA panel based on the mutations of each primary tumor may be an effective measure to dynamically monitor the tumor development of MOPMN patients.

3 years ago

Clinical • Next-generation sequencing

Onco PanScan™

3years

Comparing the Differences of ALK Fusions between DNA NGS and RNA NGS (AMP 2022)

The EML4-ALK variants detected in DNA NGS had no changes at RNA level. About 41.46% (17/41) of non-variant ALK fusions were transcribed into EML4-ALK variants. The ratio of 5'ALK transcribed to variant is higher than that of 3'ALK.

3 years ago

Next-generation sequencing

EML4 (EMAP Like 4)

ALK fusion

Onco PanScan™

3years

Prevalence and Spectrum of Cancer Predisposition Gene Germline Mutations in Young Patients across Six Late-Onset Cancer Types (AMP 2022)

Our results showed a high prevalence (17.9%) of cancer-related PGV carriers in young cancer patients affected by usually late-onset cancers, and clarified the PGV prevalence rates in each cancer type as well as their variation spectrums. These results suggested that comprehensive screening for cancer PGVs in the above-mentioned cohorts would be of great importance for diagnosis of cancer predisposition syndrome.

3 years ago

Clinical • BRCA Biomarker

TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • APC (APC Regulator Of WNT Signaling Pathway) • FANCA (FA Complementation Group A) • RAD51B (RAD51 Paralog B) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • RAD50 (RAD50 Double Strand Break Repair Protein) • RAD51D (RAD51 paralog D) • PRSS1 (Serine Protease 1) • SLX4 (SLX4 Structure-Specific Endonuclease Subunit)

Onco PanScan™

3years

Targeted RNA-Based NGS Significantly Enhanced the Proportion of Druggable Patients in Melanoma (AMP 2022)

To fully reveal targetable gene fusions or oncogenic isoforms in melanoma, targeted RNA-based NGS can be used as a supplement to DNA-based NGS testing.

3 years ago

Clinical • Next-generation sequencing

BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • FGFR1 (Fibroblast growth factor receptor 1) • ETV6 (ETS Variant Transcription Factor 6) • KDM6A (Lysine Demethylase 6A) • AGK (Acylglycerol Kinase) • NSD3 (Nuclear Receptor Binding SET Domain Protein 3) • TACC1 (Transforming Acidic Coiled-Coil Containing Protein 1) • ZKSCAN1 (Zinc Finger With KRAB And SCAN Domains 1)

ALK positive • ALK fusion • FGFR1 fusion

Onco PanScan™

over3years

Genetron Health releases 10 new research results at 2022 American Society of Clinical Oncology (ASCO) annual meeting (Genetron Health Press Release)

"Genetron Holdings Limited...announced the release of 10 research results at the 2022 American Society of Clinical Oncology (ASCO) Annual Meeting...Based on Genetron Health’s patented One-Step™ Seq Method and core products such as Onco PanScan™, the results aimed to contribute to the scientific research and clinical practice of full-cycle cancer management."

over 3 years ago

Clinical data

Onco PanScan™

over3years

Driver coexistence characteristics of ALK-fusion in Chinese patients with lung cancer. (ASCO 2022)

In this cohort, very few of ALK fusion patients coexisted with other driver mutations. Among the co-existence samples, ALK fusion were mainly coexisting with the site mutations of EGFR and KRAS, amplifications of MET and ERBB2, fusions of ROS1 and RET. These samples maybe obtain more effective outcomes by combined or sequential therapies.

over 3 years ago

Clinical

EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • MET (MET proto-oncogene, receptor tyrosine kinase) • RET (Ret Proto-Oncogene) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • EML4 (EMAP Like 4) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2)

KRAS mutation • EGFR mutation • KRAS G12C • BRAF mutation • HER-2 amplification • EGFR L858R • EGFR exon 19 deletion • MET amplification • RET fusion • MET exon 14 mutation • ALK fusion • ALK mutation • RET mutation • ROS1 fusion • MET mutation • KRAS G12 • EGFR G719S • KRAS amplification • NTRK1 mutation • KRAS exon 4 mutation

Onco PanScan™

over3years

Molecular typing and clinical characteristics of synchronous multiple primary colorectal cancer. (ASCO 2022)

Our results revealed that incidences of dMMR/MSI-H in sMPCC were significantly higher than those in single primary CRC. We proposed that MMR/MSI status of each lesion in sMPCC patients should be verified before treatment and these patients could be divided into three subgroups according to their MMR/MSI status. Our findings indicated that sMPCC patients with different MMR/MSI status might be treated with personalized therapies for better management of their disease.

over 3 years ago

Clinical • Tumor mutational burden • MSi-H Biomarker

EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • ARID1A (AT-rich interaction domain 1A) • NF1 (Neurofibromin 1) • SMAD4 (SMAD family member 4) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • KMT2C (Lysine Methyltransferase 2C) • CREBBP (CREB binding protein) • FAT4 (FAT Atypical Cadherin 4) • SOX9 (SRY-Box Transcription Factor 9) • TCF7L2 (Transcription Factor 7 Like 2) • PRKDC (Protein Kinase, DNA-Activated, Catalytic Subunit)

TP53 mutation • KRAS mutation • TMB-H • MSI-H/dMMR • PIK3CA mutation • APC mutation

Onco PanScan™

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