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News alerts, weekly reports and conference planners
Company:
Genetron HealthType:
CE Marked
Related tests:
5ms
Copy number variants landscape of multiple cancers and clinical applications based on NGS gene panel. (PubMed, Ann Med)
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.
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)
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Onco PanScan™
9ms
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.".
Journal • Tumor mutational burden
|
Onco PanScan™
1year
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.
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™
over1year
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.
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
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Onco PanScan™
over1year
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.
Clinical
|
PTPRZ1 (Protein Tyrosine Phosphatase Receptor Type Z1)
|
MET amplification • MET exon 14 mutation • MET fusion
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Onco PanScan™
over1year
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.
Next-generation sequencing
|
EML4 (EMAP Like 4)
|
ALK fusion
|
Onco PanScan™
over1year
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.
Clinical • Next-generation sequencing
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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™
over1year
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.
Clinical • Next-generation sequencing
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Onco PanScan™
over1year
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.
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™
almost2years
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."
Clinical data
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Onco PanScan™
almost2years
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.
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™
almost2years
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.
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™
almost2years
Evaluation of somatic and germline variants in patients with small bowel adenocarcinoma reveals clinically actionable targets. (ASCO 2022)
Of the entire cohort, we observed five activating PIK3CA mutations (R108H; G364R; E542K; E545K, n = 2) which may be sensitive to FDA-approved PIK3CA inhibitor alpelisib. Additionally, patients with loss-of-function mutation in NF1 (n = 2), STK11 (n = 1) and PTEN (n = 1) can be targeted with MEK inhibitor selumetinib and mTOR inhibitor everolimus, respectively. Except for one V600E mutation, all mutations in BRAF are either type 2 (L597R, n = 1) or type 3 (N581S, n = 1; D594N, n = 4) which were sensitive to MEK inhibitor trametinib...Interestingly, one IDH1 mutation (R132C) carrier in our cohort might benefit from ivosidenib... Through comprehensive genomic characterization of Chinese SBA patients, we identified actionable variants of multiple signaling pathways in plenty. NGS profiling results can guide physicians to enroll a significant portion of SBA patients in genomically-matched clinical trials.
Clinical • IO biomarker
|
KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MSI (Microsatellite instability) • PTEN (Phosphatase and tensin homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • STK11 (Serine/threonine kinase 11) • MAP2K1 (Mitogen-activated protein kinase kinase 1) • NF1 (Neurofibromin 1) • MDM2 (E3 ubiquitin protein ligase) • MLH1 (MutL homolog 1) • SMAD4 (SMAD family member 4) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • KMT2C (Lysine Methyltransferase 2C) • FGF3 (Fibroblast growth factor 3) • ARID2 (AT-Rich Interaction Domain 2) • FAT3 (FAT Atypical Cadherin 3) • ERCC5 (ERCC Excision Repair 5 Endonuclease 2) • SOX9 (SRY-Box Transcription Factor 9) • SPTA1 (Spectrin Alpha)
|
TP53 mutation • BRAF V600E • KRAS mutation • HER-2 amplification • PIK3CA mutation • BRAF V600 • IDH1 mutation • PTEN mutation • STK11 mutation • PIK3CA E545K • NF1 mutation • HER-2 S310F • HER-2 V777L • PIK3CA E542K • IDH1 R132C • PIK3CA E545 • BRAF L597R • HER-2 V842I • IDH1 R132 • PIK3CA E542 • BRAF D594N • MAP2K1 F53L • MAP2K1 K57E • MAP2K1 K57N • BRAF L597 • HER-2-H
|
Onco PanScan™
|
Mekinist (trametinib) • everolimus • Koselugo (selumetinib) • Piqray (alpelisib) • Tibsovo (ivosidenib)
2years
Treatment outcomes and prognosis of patients with primary and acquired BRAF-mutated non-small cell lung cancer: a multicenter retrospective study. (PubMed, Genes Chromosomes Cancer)
For acquired BRAF mutations, mPFS of BRAF-TKI, ICI-based and chemotherapy-based regimens were 3.8, 1.5 and 1.9 months, respectively. Therefore, for patients with the primary BRAF V600E mutation, targeted therapy or immunochemotherapy could serve as effective treatment choices while for those with acquired BRAF V600E, targeted drug therapy may remain the preferred solution in China.
Journal • Retrospective data • PD(L)-1 Biomarker • IO biomarker
|
PD-L1 (Programmed death ligand 1) • BRAF (B-raf proto-oncogene)
|
BRAF V600E • BRAF mutation • BRAF V600
|
Onco PanScan™
2years
Genetron Health presents 17 new research results at American Association for Cancer Research Annual Meeting (AACR) 2022 (Genetron Health Press Release)
"Genetron Holdings Limited...announced the release of 17 research results at the American Association for Cancer Research Annual Meeting 2022 (AACR 2022)...The results emerged from joint studies that Genetron Health conducted with more than 20 leading hospitals in China, which leveraged the Company's 'One-step Seq' patented technology, core products such as the multi-gene NGS panel testing - Onco PanScan™ and the comprehensive sarcoma gene testing - Onco PanScan plus™."
Clinical data
|
Onco PanScan™
2years
Onco PanScan™: To begin patient enrollment in late 2Q 2022 (Genetron Health)
Investor Presentation
New trial
|
Onco PanScan™
2years
Germline gene alterations in high grade and low grade gliomas: A multi-center, large scale study in China (AACR 2022)
This study indicated a higher PGVs frequency in HGG than in LGG, especially in younger group. In addition, there is different contribution of germline gene alterations to risk the formation of LGG or HGG. It might aid in the early diagnosis of these patients and genetic counseling of their families.
Clinical
|
TP53 (Tumor protein P53) • MSH2 (MutS Homolog 2) • ERCC5 (ERCC Excision Repair 5 Endonuclease 2)
|
TP53 mutation • MSH2 mutation
|
Onco PanScan™
2years
Germline variants of cancer predisposition genes in a large cohort of Chinese sarcoma patients (AACR 2022)
Patients with pathogenic SMARCA4 germline variants could participate in clinical trials of EZH2 inhibitor tazemetostat. In summary, our genomic profiling approach revealed novel predisposition variants associated with sarcoma, and some of them can serve as therapeutic targets for future clinical investigation. Our work provided proof of principle that sarcoma patients may benefit from genetic counseling and participate in genomically-matched clinical trials.
Clinical • PARP Biomarker • BRCA Biomarker
|
TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NF1 (Neurofibromin 1) • PALB2 (Partner and localizer of BRCA2) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • MSH6 (MutS homolog 6) • PMS2 (PMS1 protein homolog 2) • CHEK2 (Checkpoint kinase 2) • WRN (WRN RecQ Like Helicase) • DICER1 (Dicer 1 Ribonuclease III) • RECQL4( RecQ Like Helicase 4)
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TP53 mutation • SMARCA4 mutation
|
Onco PanScan™
|
Lynparza (olaparib) • Tazverik (tazemetostat)
2years
Mutation profiling of homologous recombination-related (HRR) genes in sarcoma patients (AACR 2022)
Our results reported the genetic landscape of HRR genes in Chinese sarcoma patients, providing a reference for the clinical application of PARP inhibitors.
Clinical • Tumor mutational burden • PARP Biomarker • BRCA Biomarker
|
TMB (Tumor Mutational Burden) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • ARID1A (AT-rich interaction domain 1A) • ATRX (ATRX Chromatin Remodeler) • FANCA (FA Complementation Group A)
|
BRCA2 mutation • BRCA1 mutation • HRD • HRD + BRCA1 mutation • FANCA mutation • BRCA1 mutation + BRCA2 mutation
|
Onco PanScan™
2years
Investigating the characteristics of BRAF Mutations and its potential relationship with therapy in a large Chinese Lung Cancer cohort (AACR 2022)
Most of BRAF mutations in Chinese lung cancer samples were non-V600E mutations (80.26%). BRAF mutations were more occurred in male and LUAD patients whose age around 61.56 ± 10.32 years. BRAF V600E patients were much older.
PD(L)-1 Biomarker • IO biomarker
|
EGFR (Epidermal growth factor receptor) • PD-L1 (Programmed death ligand 1) • BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • TMB (Tumor Mutational Burden) • EML4 (EMAP Like 4)
|
PD-L1 expression • BRAF V600E • EGFR mutation • TMB-H • BRAF mutation • EML4-ALK fusion • ALK fusion • BRAF mutation + EGFR mutation
|
Onco PanScan™
2years
Addition of PD-1 antibody camrelizumab overcame resistance to trastuzumab plus chemotherapy in a HER2-positive, metastatic gallbladder cancer patient (AACR 2022)
Chemotherapy including S-1 plus gemcitabine, as well as oxaliplatin plus paclitaxel consecutive failed, with a new lesion discovered in the liver...He was treated with trastuzumab in combination with afatinib and capecitabine...We also demonstrated that immune-related adverse events (irAEs) associated with camrelizumab can be managed with an anti-VEGF agent apatinib. This case not only highlights the importance of irAE management in patients treated with camrelizumab, but also demonstrates the potential of PD-1 antibody plus trastuzumab in HER2-positive GBCs who have developed resistance to chemotherapy and trastuzumab-based targeted therapy.
Clinical • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
|
EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • ARID2 (AT-Rich Interaction Domain 2)
|
HER-2 positive • EGFR mutation • TMB-H • HER-2 overexpression • HER-2 amplification • PD-L1 negative
|
Onco PanScan™
|
Herceptin (trastuzumab) • Gilotrif (afatinib) • gemcitabine • paclitaxel • AiRuiKa (camrelizumab) • AiTan (rivoceranib) • capecitabine • oxaliplatin • Teysuno (gimeracil/oteracil/tegafur)
2years
Next-generation sequencing (NGS) reveals different molecular profiles of pediatric sarcoma in children and adults (AACR 2022)
The genomic landscape of pediatric sarcomas is different from that of adults. NGS aids in the subtype classification and clinical guidance of pediatric sarcomas, providing evidence for personalized treatments with clinical benefit.
Clinical • Next-generation sequencing
|
ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • RB1 (RB Transcriptional Corepressor 1) • NF1 (Neurofibromin 1) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • EWSR1 (EWS RNA Binding Protein 1)
|
TP53 mutation • ALK mutation
|
Onco PanScan™
2years
Investigating the potential relationship between BRAF mutations and tumor mutation burden (TMB) in lung cancer (LC) (AACR 2022)
While LC patients with BRAF non-V600E always with higher TMB, thus, they may be more suitable for immunotherapy. However, more clinical research are needed to evaluate the effectiveness of immunotherapy.
Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
|
PD-L1 (Programmed death ligand 1) • BRAF (B-raf proto-oncogene) • TMB (Tumor Mutational Burden)
|
BRAF V600E • TMB-H • BRAF mutation
|
Onco PanScan™
over2years
Onco PanScan™: large-panel registrational trial initiation in Q1 2022 (Genetron Health)
Investor Presentation
New trial
|
Onco PanScan™
over2years
Genetron Health’s multi-gene mutation detection kit Onco PanScan™ obtains CE Mark (Genetron Health Press Release)
"Genetron Holdings Limited...announced that its proprietary large-panel product, Onco PanScan™ (Mutation Detection Kit for Human Multi-Genes), has obtained the CE mark, a compulsory certification mark required for marketing and distribution in the European Union...Onco PanScan™ provides comprehensive and accurate genomic profiling to guide personalized medicine for cancer patients with a single test, making it suitable for targeted therapy, immunotherapy (TMB assessments, MSI, immune efficacy-related genes) treatment guidance, and screening for susceptibility to genetic risks."
European regulatory
|
Onco PanScan™
almost3years
[VIRTUAL] Comprehensive genomic profiling of SMARCA2/4 alterations in Chinese pan-cancer patients (pts) identified by next generation sequencing (NGS) (ESMO 2021)
Above all, this study reveals the genomic features of B&B in Chinese solid tumor pts by NGS. Given the continued development of B&B inhibitors, the systematic exploration of B&Bm provides profound insights of therapeutic strategies for solid tumor pts.
Clinical • IO biomarker • Next-generation sequencing • Pan tumor
|
EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • ALK (Anaplastic lymphoma kinase) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • ARID1A (AT-rich interaction domain 1A) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • SMARCA2 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 2)
|
TMB-H
|
Onco PanScan™
almost3years
[VIRTUAL] Distribution of KRAS G12C somatic mutations in 41,913 Chinese cancer patients (ESMO 2021)
We found that KRAS G12C somatic mutations are common in Chinese patients with lung cancer and colorectal cancer. Our data confirmed the presence of differences according to sex and ethnic group in the distribution of KRAS G12C mutations in various cancer types. Clinicians should incorporate these differences when designing KRAS G12C inhibitor clinical trials in the Asian population.
Clinical
|
KRAS (KRAS proto-oncogene GTPase)
|
KRAS mutation • KRAS G12C • KRAS G12
|
Onco PanScan™
almost3years
[VIRTUAL] A mutation characteristics analysis of SMARCA4defSMARCA2wt in lung cancer (ESMO 2021)
Selective SMARCA2 degrading agents (such as ACBI1, one of PROTAC drugs) can induce the death of SMARCA4-deficient cancer cells... Our analysis indicate the medication-related mutation characteristics of SMARCA4defSMARCA2wt in lung cancer, and may contribute to medication guidance.
PD(L)-1 Biomarker • IO biomarker
|
EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • TMB (Tumor Mutational Burden) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • SMARCA2 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 2)
|
PD-L1 expression • KRAS mutation • EGFR mutation • TMB-H • PD-L1 overexpression • KRAS G12C • BRAF mutation • EGFR L858R • EGFR exon 19 deletion • MET mutation • KRAS G12 • SMARCA4 mutation
|
Onco PanScan™
|
ACBI1
almost3years
[VIRTUAL] Germline testing of sarcoma revealed frequent mutations in genes involved in DNA repair, RNA metabolism, and epigenetic regulation (ESMO 2021)
Our study provides novel insights regarding the contribution of germline mutations to the pathogenesis of sarcomas. These findings have the potential to identify sarcoma patients who may benefit from precision therapy and genetic counseling.
BRCA Biomarker
|
TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • NF1 (Neurofibromin 1) • PALB2 (Partner and localizer of BRCA2) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • MSH6 (MutS homolog 6) • ERCC2 (Excision repair cross-complementation group 2) • PMS2 (PMS1 protein homolog 2) • CHEK2 (Checkpoint kinase 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD50 (RAD50 Double Strand Break Repair Protein) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1) • ERCC5 (ERCC Excision Repair 5 Endonuclease 2) • FANCL (FA Complementation Group L) • PMS1 (PMS1 protein homolog 1) • WRN (WRN RecQ Like Helicase) • DICER1 (Dicer 1 Ribonuclease III) • FANCM (FA Complementation Group M) • XPA (XPA, DNA Damage Recognition And Repair Factor) • FANCD2 (FA Complementation Group D2) • RECQL (RecQ Like Helicase) • RECQL4( RecQ Like Helicase 4)
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PALB2 mutation • RAD51D mutation • RAD50 mutation • BARD1 mutation
|
Onco PanScan™
almost3years
[VIRTUAL] Investigating the potential relationship between KRAS mutations and immunotherapeutic biomarkers in lung cancer (LC) (ESMO 2021)
KRASm, especially KRASG12C or KRASmTP53m, was tightly associated with higher TMB and PD-L1. It may be a positive predictive biomarker for IT in LC patients.
Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
|
PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • TMB (Tumor Mutational Burden)
|
KRAS mutation • TMB-H • KRAS G12C • KRAS G12D • KRAS G12V • KRAS G12 • KRAS exon 2 mutation
|
Onco PanScan™
almost3years
[VIRTUAL] Genomic profiling of wild-type gastrointestinal stromal tumor (GIST) reveals targetable mutations in multiple signaling pathways (ESMO 2021)
We also observed one activating PIK3CA mutations (D549N) which may be sensitive to mTOR inhibitors and one targetable gene mutation of EGFR T790M which can be targeted by the third-generation EGFR-TKI osimertinib... The mutational landscape of our wild-type GIST cohort provided evidence that many driver mutations in these pathways are targetable. Our findings indicated that wild-type GIST patients should be tested for alternative driver mutations and receive the corresponding targeted therapies.
Tumor mutational burden
|
EGFR (Epidermal growth factor receptor) • ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • MSI (Microsatellite instability) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • TET2 (Tet Methylcytosine Dioxygenase 2) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A)
|
TP53 mutation • BRAF V600E • EGFR mutation • PIK3CA mutation • BRAF V600 • EGFR T790M • ALK fusion • NRAS Q61K • NRAS Q61 • PDGFRA mutation • EGFR mutation + PIK3CA mutation • HER-2 V842I
|
Onco PanScan™
|
Tagrisso (osimertinib)
almost3years
[VIRTUAL] Clinical value of Next Generation Sequencing in Chinese pediatric soft tissue sarcoma: A multicenter data. (ASCO 2021)
Four patients received the treatment recommended by genetic testing, three of them with NTRK fusion were recruited in a matched clinical trial could be evaluated and showed partial remission upon Larotrectinib . We discovered ARID1A mutations, which potentially sensitive to PARP-inhibition, were at a higher incidence in Chinese RMS . This study demonstrated the value of NGS test in guiding the clinical practice of psts in Chinese population.
Clinical • Tumor mutational burden • PARP Biomarker • Next-generation sequencing
|
TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • ARID1A (AT-rich interaction domain 1A) • NTRK (Neurotrophic receptor tyrosine kinase)
|
TP53 mutation • ARID1A mutation • NTRK fusion
|
Onco PanScan™
|
Vitrakvi (larotrectinib)
almost3years
[VIRTUAL] Genetic landscape of melanoma in China reveals enrichment of fusions in driver-negative melanoma. (ASCO 2021)
As was reported, AGAP3-BRAF fusion was the mechanism by which melanoma patients with BRAF V600E mutations developed resistance to vemurafenib; GTF2I-BRAF fusion mediated the activation of MAPK pathway in fibrous astrocytoma... Through DNA-based NGS, the mutation landscape of Chinese melanoma patients was depicted . BRAF was the most frequently mutated driver gene with the main mutation type of V600E (19.7%) which was significantly lower than that of white race in TCGA-SKCM database (44.2%) . On the other hand, DNA-based NGS can detect potentially druggable fusions, and compared with driver positive melanoma patients, fusions were enriched in patients with no driver mutations detected .
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) • NRAS (Neuroblastoma RAS viral oncogene homolog) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • HRAS (Harvey rat sarcoma viral oncogene homolog) • NF1 (Neurofibromin 1) • GNAQ (G Protein Subunit Alpha Q) • CCND1 (Cyclin D1) • FGF19 (Fibroblast growth factor 19) • GNA11 (G Protein Subunit Alpha 11) • CDK4 (Cyclin-dependent kinase 4) • FGF3 (Fibroblast growth factor 3) • FGF4 (Fibroblast growth factor 4) • TPM3 (Tropomyosin 3) • DCTN1 (Dynactin Subunit 1) • RICTOR (RPTOR Independent Companion Of MTOR Complex 2)
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BRAF V600E • KRAS mutation • HER-2 amplification • NRAS mutation • BRAF V600 • MET amplification • MYC amplification • NF1 mutation • ALK fusion • HRAS mutation • CCND1 amplification • NRAS Q61 • BRAF fusion • NRAS Q61R • HRAS Q61R
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Onco PanScan™
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Zelboraf (vemurafenib)
almost3years
[VIRTUAL] Exploration of the TMB and hypermutation landscape in Chinese pan-cancer patient by next-generation sequencing. (ASCO 2021)
In this study, we explored the TMB and hypermutation landscape in Chinese pan-Cancer patient for the first time . We found that among Chinese cancer patients, lung cancer patients have the highest proportion of hypermutation . In a variety of cancers, hypermutation patients account for a higher proportion of men, and the older the patient, the higher the TMB.
Clinical • Tumor mutational burden • IO biomarker • Next-generation sequencing • Pan tumor
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TMB (Tumor Mutational Burden)
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TMB-H
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Onco PanScan™
almost3years
[VIRTUAL] Evaluation of somatic and germline mutations in Chinese patients with gallbladder carcinoma reveals clinically actionable targets. (ASCO 2021)
Importantly, 9% (10/118) patients carried activating PIK3CA mutations including P104L, E110del, E545K/Q/G, E542K, E726K and T1025S which may be targeted by PIK3CA inhibitor alpelisib... Our results indicated that activating mutations in the ErbB and PI3K signaling pathways are the major driving events of GBC . The results of genomic profiling can guide physicians to enroll a significant portion of GBC patients into genomically matched clinical trials.
Clinical • PARP Biomarker • BRCA Biomarker
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EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • ERBB3 (V-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3) • ARID1A (AT-rich interaction domain 1A) • NF1 (Neurofibromin 1) • PALB2 (Partner and localizer of BRCA2) • KMT2C (Lysine Methyltransferase 2C) • ERBB4 (erb-b2 receptor tyrosine kinase 4) • ARID2 (AT-Rich Interaction Domain 2) • ELF3 (E74 Like ETS Transcription Factor 3)
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TP53 mutation • BRCA1 mutation • EGFR mutation • PIK3CA mutation • MET amplification • ATM mutation • PTEN mutation • ARID1A mutation • STK11 mutation • PALB2 mutation • PIK3CA E545K • NF1 mutation • HER-2 S310F • PIK3CA E542K • ERBB3 mutation • PIK3CA E545 • PIK3CA E542
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Onco PanScan™
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Piqray (alpelisib)
almost3years
[VIRTUAL] Genomic profiling of esophageal squamous cell carcinoma to reveal actionable genetic alterations. (ASCO 2021)
Taken together, 17% (20/118) of ESCC patients harbored mutations in the NFE2L2/KEAP1/CUL3 pathway, which may be eligible for clinical trials of glutaminase inhibitor telaglenastat...Furthermore, 11.9% (14/118) patients carried activating PIK3CA mutations including N345K, E542K, E545K, M1043I and H1047R which may be targeted by PIK3CA inhibitor alpelisib... Our findings indicated that amplification of the 11q13 amplicon and dysfunction of the KEAP1-NRF2-CUL3 axis are the major driving events of ESCC . The results of genomic profiling can guide physicians to enroll a significant portion of ESCC patients into genomically matched clinical trials.
TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • NOTCH1 (Notch 1) • NF1 (Neurofibromin 1) • CCND1 (Cyclin D1) • FGF19 (Fibroblast growth factor 19) • KMT2D (Lysine Methyltransferase 2D) • LRP1B (LDL Receptor Related Protein 1B) • FGF3 (Fibroblast growth factor 3) • NFE2L2 (Nuclear Factor, Erythroid 2 Like 2) • NOTCH2 (Notch 2) • FGF4 (Fibroblast growth factor 4) • NOTCH3 (Notch Receptor 3) • EP300 (E1A binding protein p300)
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TP53 mutation • HER-2 amplification • PIK3CA mutation • PIK3CA H1047R • PTEN mutation • STK11 mutation • PIK3CA E545K • NF1 mutation • KEAP1 mutation • PIK3CA E542K • PIK3CA E545 • PIK3CA E542 • PIK3CA M1043I • PIK3CA N345K
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Onco PanScan™
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Piqray (alpelisib) • telaglenastat (CB-839)
almost3years
[VIRTUAL] Genomic profiling of KRAS wide-type pancreatic ductal adenocarcinomas identifies targetable genetic alterations. (ASCO 2021)
We found one classic EGFR activing mutation (L747_A750delinsP) and one MAP2K1 activating mutation (F53_Q58delinsL), which can be targeted by EGFR-TKIs and MEK inhibitor trametinib, respectively...We also found STK11/TSC2 inactivating mutations and a dominant-negative mutation of PTEN (R130Q) which could be targeted by mTOR inhibitor everolimus and AKT inhibitor capivasertib, respectively... The mutational landscape of our PDAC cohort provided compelling evidence that targetable driver mutations accounted for a significant portion of KRAS wide-type tumors . Our findings demonstrated that genomic profiling of PDAC patients can enable physicians to optimize their clinical management and enroll them into genomically matched clinical trials.
PARP Biomarker • BRCA Biomarker
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EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • BRCA1 (Breast cancer 1, early onset) • RET (Ret Proto-Oncogene) • PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • MAP2K1 (Mitogen-activated protein kinase kinase 1) • ERBB3 (V-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3) • PALB2 (Partner and localizer of BRCA2) • TSC2 (TSC complex subunit 2) • NCOA4 (Nuclear Receptor Coactivator 4) • ELF3 (E74 Like ETS Transcription Factor 3)
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BRAF V600E • KRAS mutation • BRCA1 mutation • EGFR mutation • BRAF V600 • MET amplification • RET fusion • PTEN mutation • STK11 mutation • PALB2 mutation • BRAF fusion • ERBB3 mutation • NCOA4-RET fusion • TSC2 mutation • EGFR L747_A750delinsP
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Onco PanScan™
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Mekinist (trametinib) • everolimus • Truqap (capivasertib)
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