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Type:
Laboratory Developed Test
19d
COMRADE: Testing the Safety of Different Doses of Olaparib Given Radium-223 for Men With Advanced Prostate Cancer With Bone Metastasis (clinicaltrials.gov)
P1/2, N=133, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: Nov 2024 --> Apr 2025 | Trial primary completion date: Nov 2024 --> Apr 2025
Trial completion date • Trial primary completion date • Tumor mutational burden
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HRD (Homologous Recombination Deficiency) • CD4 (CD4 Molecule)
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HRD
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OncoPanel™ Assay
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Lynparza (olaparib) • Xofigo (radium Ra-223 dichloride)
2ms
Tumor genomics in young patients with metastatic breast cancer (SABCS 2024)
In EMBRACE, differences in mutational frequency of several genes were observed by age at MBC diagnosis among patients with recurrent MBC, most notably for HR+/HER2- patients. Lower OS among younger recurrent MBC patients may be driven by these differences, particularly by high frequency of TP53 mutations in this age group. Further investigation of these genes is warranted to elucidate pathways leading to metastasis and to improve survival for young MBC patients.
Clinical • Tumor mutational burden • BRCA Biomarker • Metastases
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HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PGR (Progesterone receptor) • TMB (Tumor Mutational Burden) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • CDH1 (Cadherin 1) • MAP3K1 (Mitogen-Activated Protein Kinase Kinase Kinase 1) • GATA3 (GATA binding protein 3)
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TP53 mutation • BRCA1 mutation • TMB-H • HER-2 negative • PIK3CA mutation • HER-2 mutation • AKT1 mutation • CDH1 mutation
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OncoPanel™ Assay
3ms
Oncogenetic Panel and Integrated Clinical Data Registry Study for Wild Type Gastrointestinal Stromal Tumor Patients (clinicaltrials.gov)
P=N/A; Trial primary completion date: Dec 2025 --> Dec 2024
Trial primary completion date • Stroma
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KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha)
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PDGFRA mutation • KIT wild-type • PDGFR wild-type
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OncoPanel™ Assay
3ms
Multi-omics dissection of smoking history on clinical outcomes of immunotherapy in advanced non-small cell lung cancer (SITC 2024)
In PD-L1 TPS ≥50% EGFR/ALK wild-type patients, only patients who have never smoked benefited from first-line Chemo-IO over IO-alone, suggesting IO-alone may be preferable for patients with smoking history to spare chemotherapy toxicity. Tobacco-related mutational signature may potentially reduce stigma, improve patient stratification, and guide more precise IO-based treatment in patients with NSCLC.
Clinical • Clinical data • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker • Metastases
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EGFR (Epidermal growth factor receptor) • ALK (Anaplastic lymphoma kinase) • TMB (Tumor Mutational Burden) • CD8 (cluster of differentiation 8) • CDCP1 (CUB Domain Containing Protein 1)
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EGFR mutation • EGFR wild-type • ALK mutation • ALK wild-type
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OncoPanel™ Assay
4ms
Somatic Activating ESR1 Mutation in an Aggressive Prolactinoma. (PubMed, J Clin Endocrinol Metab)
Molecular profiling allowed the identification of ESR1Y537S, in an aggressive prolactinoma. ESR1Y537S was not detected early in the course of the disease and is likely conferring tumor aggressiveness. This finding emphasizes the significance of estrogen receptor signaling in prolactinomas. It also allowed the use of targeted therapy with successful control of disease progression.
Journal
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ER (Estrogen receptor) • SF3B1 (Splicing Factor 3b Subunit 1)
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ER mutation • ER Y537S • ESR1 mutation
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OncoPanel™ Assay
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Orserdu (elacestrant)
4ms
NIMBUS: Nivolumab Plus Ipilimumab in Metastatic Hypermutated HER2-negative Breast Cancer (clinicaltrials.gov)
P2; Trial completion date: Jun 2024 --> Dec 2024
Trial completion date • IO biomarker • Metastases
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HER-2 (Human epidermal growth factor receptor 2) • PGR (Progesterone receptor) • TMB (Tumor Mutational Burden)
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MSK-IMPACT • OncoPanel™ Assay
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Opdivo (nivolumab) • Yervoy (ipilimumab)
4ms
Thromboembolic Events in Patients with Oncogene-Addicted Advanced NSCLC (IASLC-WCLC 2024)
TEs occurred later with EGFR and ALK , while earlier with ROS1 or KRAS with STK11, KEAP1 or SMARCA4 co-mutations compared to those with KRAS mutations alone. $$table_{7740CBC2-774F-48DA-932A-077113E7FED5}$$
Clinical • Metastases
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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) • STK11 (Serine/threonine kinase 11) • KEAP1 (Kelch Like ECH Associated Protein 1) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4)
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KRAS mutation • HER-2 mutation • MET exon 14 mutation • STK11 mutation • KEAP1 mutation • ROS1 fusion • SMARCA4 mutation
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OncoPanel™ Assay
5ms
COMRADE: Testing the Safety of Different Doses of Olaparib Given Radium-223 for Men With Advanced Prostate Cancer With Bone Metastasis (clinicaltrials.gov)
P1/2; Suspended --> Active, not recruiting
Enrollment closed • Tumor mutational burden
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HRD (Homologous Recombination Deficiency) • CD4 (CD4 Molecule)
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OncoPanel™ Assay
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Lynparza (olaparib) • Xofigo (radium Ra-223 dichloride)
5ms
MCS110 With BRAF/MEK Inhibition in Patients With Melanoma (clinicaltrials.gov)
P1/2; Active, not recruiting --> Completed | N=43 --> 6 | Trial completion date: Sep 2025 --> Sep 2023 | Trial primary completion date: Sep 2024 --> Sep 2023
Trial completion date • Trial primary completion date • Enrollment change • Trial completion
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OncoPanel™ Assay
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Mekinist (trametinib) • Tafinlar (dabrafenib) • lacnotuzumab (MCS110)
5ms
Thromboembolic Events in Patients with Oncogene-Addicted Advanced NSCLC (IASLC-WCLC 2024)
TEs occurred later with EGFR and ALK , while earlier with ROS1 or KRAS with STK11, KEAP1 or SMARCA4 co-mutations compared to those with KRAS mutations alone. Cumulative incidence of venous and arterial TEs % 0 6 weeks 6 months 1 year 2 years 3 years Overall 2.8 6 11.7 15.8 21.5 26.2 ALK 5.3 10.7 12 14.8 14.8 17 BRAF 2.1 5.8 12.9 16.3 19.5 27.9 EGFR 2 5.8 10.2 14 17.9 23 HER2 0 3.5 7.2 9.2 19.5 23 KRAS 2.7 5.1 11.3 15.3 22.5 27.1 MET 14 6.8 11.3 21.2 21.2 23.9 27.7 RET 13.3 23.3 33.3 36.6 44.5 50.1 ROS1 12 20 34.2 34.2 45.1 53.3
Clinical • Metastases
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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) • STK11 (Serine/threonine kinase 11) • KEAP1 (Kelch Like ECH Associated Protein 1) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4)
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KRAS mutation • HER-2 mutation • MET exon 14 mutation • STK11 mutation • KEAP1 mutation • ROS1 fusion • SMARCA4 mutation
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OncoPanel™ Assay
5ms
Spatial Profiling of the Tumor Microenvironment of SMARCA4-Mutant NSCLCs Using Whole-Slide Multiplex Fluorescence Imaging (IASLC-WCLC 2024)
Conclusions : SMARCA4 -deficient NSCLCs has a distinct tumor immune microenvironment characterized by increased myeloid cell and macrophage infiltration, potentially contributing to resistance to immune checkpoint inhibitors. Additional work is underway to profile and spatially analyze the tumor immune microenvironment and to characterize its relation to STK11 co-mutation status.
Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
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TMB (Tumor Mutational Burden) • STK11 (Serine/threonine kinase 11) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • CD163 (CD163 Molecule) • CD14 (CD14 Molecule) • SMARCA2 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 2)
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PD-L1 expression • TMB-H • PD-L1 overexpression • STK11 mutation • SMARCA4 mutation
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OncoPanel™ Assay
5ms
NSCLC in Patients with CTD-ILD: Apobec-Related Mutagenesis, Frequent TP53 Mutations and Paucity of Targetable Alterations (IASLC-WCLC 2024)
Given the contraindication of immunotherapy and a paucity of targetable alterations in patients with CTD-ILD, this population has limited systemic therapeutic options. Further research is necessary to develop optimal preventive and therapeutic strategies for lung cancer in patients with CTD.
Clinical • IO biomarker
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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) • TP53 (Tumor protein P53) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • MAP2K1 (Mitogen-activated protein kinase kinase 1) • NRG1 (Neuregulin 1)
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TP53 mutation
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OncoPanel™ Assay
5ms
NSCLC in Patients with CTD-ILD: Apobec-Related Mutagenesis, Frequent TP53 Mutations and Paucity of Targetable Alterations (IASLC-WCLC 2024)
Given the contraindication of immunotherapy and a paucity of targetable alterations in patients with CTD-ILD, this population has limited systemic therapeutic options. Further research is necessary to develop optimal preventive and therapeutic strategies for lung cancer in patients with CTD.
Clinical • IO biomarker
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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) • TP53 (Tumor protein P53) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • MAP2K1 (Mitogen-activated protein kinase kinase 1) • NRG1 (Neuregulin 1)
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TP53 mutation
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OncoPanel™ Assay
5ms
Real-world cost-effectiveness of panel-based genomic testing to inform therapeutic decisions for metastatic colorectal cancer. (PubMed, J Cancer Policy)
Interpretation The use of OncoPanel resulted in more precise targeting of cetuximab and panitumumab, but there was no change in incremental cost or quality-adjusted survival. Understanding the balance of costs achieved in practice can provide insight into the effect of future changes in testing policy, test cost, treatment eligibility, or drug prices in this setting.
Real-world evidence • HEOR • Journal • Cost-effectiveness • Cost effectiveness • Real-world • Metastases
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KRAS (KRAS proto-oncogene GTPase) • NRAS (Neuroblastoma RAS viral oncogene homolog)
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OncoPanel™ Assay
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Erbitux (cetuximab) • Vectibix (panitumumab)
5ms
Nivolumab + Docetaxel + ADT in mHSPC Patients With DDRD or Inflamed Tumors (clinicaltrials.gov)
P2; Trial primary completion date: Jun 2024 --> Dec 2024
Combination therapy • Trial primary completion date • Metastases
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PD-L1 (Programmed death ligand 1) • BRCA1 (Breast cancer 1, early onset) • MSI (Microsatellite instability) • CD8 (cluster of differentiation 8) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • CDK12 (Cyclin dependent kinase 12) • CHEK2 (Checkpoint kinase 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • ABRAXAS1 (Abraxas 1 BRCA1 A Complex Subunit 2) • GEN1 (GEN1 Holliday junction 5' flap endonuclease)
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OncoPanel™ Assay
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Opdivo (nivolumab) • docetaxel • goserelin acetate • Firmagon (degarelix) • leuprolide acetate for depot suspension
5ms
LY3022855 With BRAF/MEK Inhibition in Patients With Melanoma (clinicaltrials.gov)
P1/2; Active, not recruiting --> Completed
Trial completion
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OncoPanel™ Assay
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Zelboraf (vemurafenib) • Cotellic (cobimetinib) • LY3022855
5ms
Molecular profiling of 888 pediatric tumors informs future precision trials and data-sharing initiatives in pediatric cancer. (PubMed, Nat Commun)
This study highlights opportunities to use genomic data from hospital-based sequencing performed either for research or clinical care to inform ongoing and future precision oncology clinical trials. Furthermore, the study results emphasize the importance of data sharing to define the genomic landscape and targeted treatment opportunities for the large group of rare pediatric cancers we encounter in clinical practice.
Journal
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OncoPanel™ Assay
6ms
Advanced Cholangiocarcinoma With High Tumor Mutation Burden Achieving Complete Response to Immune Check Point Inhibitor. (PubMed, Anticancer Res)
Immune checkpoint blockade successfully prolonged the survival of a patient with advanced hilar cholangiocarcinoma with high tumor mutation burden, although the optimal number of mutations for such a successful response needs to be clarified.
Journal • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker • Metastases
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TMB (Tumor Mutational Burden)
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OncoPanel™ Assay
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Keytruda (pembrolizumab) • cisplatin • Tecentriq (atezolizumab) • gemcitabine
6ms
Molecular profiling of visible polypoid and invisible conventional intestinal-type low-grade dysplasia in patients with idiopathic inflammatory bowel disease. (PubMed, J Clin Pathol)
Molecular alterations in visible low-grade dysplastic polyps with conventional intestinal-type dysplasia from patients with IBD and sporadic adenomas from non-IBD patients overlap significantly. APC alterations appear to play a major role in the development of visible low-grade dysplastic lesions in patients with IBD, regardless of background colitis. As with IBD-associated colorectal cancers, TP53 mutations are an early event in the development of invisible, low-grade conventional intestinal-type dysplasia in patients with IBD.
Journal
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KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • ARID1A (AT-rich interaction domain 1A) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • TCF7L2 (Transcription Factor 7 Like 2)
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OncoPanel™ Assay
8ms
The Identification of an Activating ESR1 Mutation in an Aggressive Prolactinoma Enabled the Use of Personalized Treatment (ENDO 2024)
Elacestrant, a second-line ER degrader, increases overall free-survival in patients with resistant breast cancer and ESR1Y537S...Abstracts presented at a news conference are embargoed until the date and time of the news conference. The Endocrine Society reserves the right to lift the embargo on specific abstracts that are selected for promotion prior to or during ENDO.
ER (Estrogen receptor) • SF3B1 (Splicing Factor 3b Subunit 1) • MEN1 (Menin 1)
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ER positive • ER mutation • ER Y537S • SF3B1 mutation • ESR1 mutation
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OncoPanel™ Assay
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Orserdu (elacestrant)
8ms
Characterizing genomic alterations in patients with metastatic urothelial carcinoma (mUC) treated with enfortumab-vedotin (EV) with a focus on 1q23.3. (ASCO 2024)
Our study did not find significant correlations between specific somatic alterations and clinical outcomes in patients with metastatic UC treated with EV though limited by small sample size. The observed trends in alterations of 1q23. 3 and 9p21.
Clinical • Metastases
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CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MTAP (Methylthioadenosine Phosphorylase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
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OncoPanel™ Assay
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Padcev (enfortumab vedotin-ejfv)
8ms
Nivolumab + Docetaxel + ADT in mHSPC Patients With DDRD or Inflamed Tumors (clinicaltrials.gov)
P2; Recruiting --> Active, not recruiting
Combination therapy • Enrollment closed • Metastases
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PD-L1 (Programmed death ligand 1) • BRCA1 (Breast cancer 1, early onset) • MSI (Microsatellite instability) • CD8 (cluster of differentiation 8) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • CDK12 (Cyclin dependent kinase 12) • CHEK2 (Checkpoint kinase 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • ABRAXAS1 (Abraxas 1 BRCA1 A Complex Subunit 2) • GEN1 (GEN1 Holliday junction 5' flap endonuclease)
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PD-L1 expression • MSI-H/dMMR
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OncoPanel™ Assay
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Opdivo (nivolumab) • docetaxel • goserelin acetate • Firmagon (degarelix) • leuprolide acetate for depot suspension
8ms
Towards accurate indel calling for oncopanel sequencing through an international pipeline competition at precisionFDA. (PubMed, Sci Rep)
The performance of indel calling can further be improved by restricting the calls within high confidence intervals (HCIs) and coding regions, and by excluding low complexity regions (LCR) regions. Certain VAF cut-offs could be applied according to the applications.
Journal
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OncoPanel™ Assay
8ms
Merestinib In Non-Small Cell Lung Cancer And Solid Tumors (clinicaltrials.gov)
P2; Trial completion date: Mar 2024 --> Oct 2023 | Active, not recruiting --> Terminated; Funding was pulled
Trial completion date • Trial termination
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EGFR (Epidermal growth factor receptor) • ALK (Anaplastic lymphoma kinase) • MET (MET proto-oncogene, receptor tyrosine kinase) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK (Neurotrophic receptor tyrosine kinase)
|
MET exon 14 mutation
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OncoPanel™ Assay
|
merestinib (LY2801653)
10ms
Investigating clinical trial eligibility criteria to improve MatchMiner trial matching (AACR 2024)
Overall, having similar categories of criteria across trials suggests that common clinical data could be used for many different PM trials. Currently, we are investigating which categories are most relevant for trial matching and the use of AI for structuring unstructured clinical data.
Clinical
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OncoPanel™ Assay
10ms
A novel microtubule disruptor exerts broad anticancer efficacy with a tolerable safety profile (AACR 2024)
Our studies have elaborated the mechanism of AUS_001 as an inhibitor of tubulin polymerization. The favorable safety profile of AUS_001, along with its ability to circumvent Pgp-mediated multidrug resistance, provides potential for efficacy against multiple cancers where microtubule destabilization is proven to be an effective target.
Clinical
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PGP overexpression
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OncoPanel™ Assay
10ms
Evolution of clinically relevant variants in advanced pediatric sarcomas (AACR 2024)
Interestingly, in three cases there was emergence of a new variant activating the RAF/MAPK or AKT pathway.Conclusion Pediatric sarcomas display a range of genomic changes over time. Given the observed changes in oncogenic alterations, there may be utility to repeat sequencing of relapsed tumor biopsies to understand these changes.
Clinical • Metastases
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TP53 (Tumor protein P53) • STAG2 (Stromal Antigen 2)
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OncoPanel™ Assay
10ms
Small molecule allosteric regulators of eIF4E activity target proteomic dysregulation and demonstrate potent antiproliferative activity in multiple myeloma models whilst sparing normal immune cells (AACR 2024)
Furthermore, CD4+ T-cells isolated from fresh PBMCs demonstrated proliferative responses following stimulation (ImmunoCultâ„¢) in the presence of PIC eIF4E regulators. The impact on key oncogenic drivers and potent antiproliferative activity in multiple myeloma models with minimal effects on normal immune cell populations suggests that targeting eIF4E activity with PIC allosteric eIF4E regulators could offer an attractive therapeutic strategy in multiple myeloma.
Immune cell
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MYC (V-myc avian myelocytomatosis viral oncogene homolog) • CD4 (CD4 Molecule) • EIF4EBP1 (Eukaryotic translation initiation factor 4E binding protein 1)
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MYC expression
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OncoPanel™ Assay
10ms
Genomic analysis of primary epithelial neoplasms of the seminal vesicle identifies a subset of mucinous cystic tumours driven by KRAS mutations. (PubMed)
Our results suggest that primary low-grade mucinous neoplasms of the seminal vesicle may represent a distinct entity equivalent to appendiceal counterparts, driven by gain-of-function variants of RAS GTPases. The remaining tumours showed genomic features that closely resembled those of neoplasms with comparable phenotypes and/or biological characteristics arising in other sites, suggesting that they could be managed similarly, with special considerations related to their anatomical location.
Journal
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OncoPanel™ Assay
10ms
Molecular and Clinical Characterization of Oncocytic Intraductal Papillary Neoplasms of the Pancreas (USCAP 2024)
The presence of a PRKACA/B fusion appears to contribute to oncocytic morphology, but 71% of fusion-positive cases had mixed epithelial subtypes. Rare cases harbored concurrent fusion and driver mutation associated with IPMN. Though fusion-positive lesions were more commonly seen in the non-recurrence group, they also comprised >50% of cases with disease recurrence.
Clinical
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KRAS (KRAS proto-oncogene GTPase) • RNF43 (Ring Finger Protein 43) • SMAD4 (SMAD family member 4) • GNAS (GNAS Complex Locus) • PRKACA (Protein Kinase CAMP-Activated Catalytic Subunit Alpha)
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KRAS mutation • RNF43 mutation • SMAD4 deletion • GNAS mutation • KRAS deletion
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OncoPanel™ Assay
10ms
Study of the CDK4/6 Inhibitor Abemaciclib in Solid Tumors Harboring Genetic Alterations in Genes Encoding D-type Cyclins or Amplification of CDK4 or CDK6 (clinicaltrials.gov)
P2; Trial primary completion date: Jun 2024 --> Dec 2024
Trial primary completion date
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CCND1 (Cyclin D1) • CDK4 (Cyclin-dependent kinase 4) • CDK6 (Cyclin-dependent kinase 6)
|
CCND1 amplification • CDK4 amplification • CCND1 mutation
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OncoPanel™ Assay
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Verzenio (abemaciclib)
11ms
Association of a gene-expression subtype to outcome and treatment response in patients with recurrent/metastatic head and neck squamous cell carcinoma treated with nivolumab. (PubMed, J Immunother Cancer)
P3; These data highlight the presence of underlying biological differences able to predict survival and response following treatment with immunotherapy in platinum-refractory R/M HNSCC that could have translational implications improving treatment selection.
Journal • P3 data • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker • Metastases
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PD-L1 (Programmed death ligand 1) • TMB (Tumor Mutational Burden)
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OncoPanel™ Assay
|
Opdivo (nivolumab)
11ms
Idiopathic erythrocytosis: a germline disease? (PubMed, Clin Exp Med)
We identified recurrent germline variants in 42 (75%) patients occurring mainly in JAK/STAT, Hypoxia and Iron metabolism pathways, among them: JAK3-V722I and HIF1A-P582S; a high fraction of patients (48.2%) resulted also mutated in homeostatic iron regulatory gene HFE-H63D or C282Y. By generating cellular models, we showed that JAK3-V722I causes activation of the JAK-STAT5 axis and upregulation of EPAS1/HIF2A, while HIF1A-P582S causes suppression of hepcidin mRNA synthesis, suggesting a major role for these variants in the onset of IE.
Journal • Tumor mutational burden
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TMB (Tumor Mutational Burden) • DNMT3A (DNA methyltransferase 1) • JAK2 (Janus kinase 2) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • HIF1A (Hypoxia inducible factor 1, alpha subunit) • WT1 (WT1 Transcription Factor) • EPAS1 (Endothelial PAS domain protein 1) • JAK3 (Janus Kinase 3)
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TMB-H • DNMT3A mutation • TMB-L • JAK2 V617F • JAK2 mutation • JAK3 mutation • HIF1A P582S
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OncoPanel™ Assay
11ms
Clinical and genomic predictors of adverse events in newly diagnosed glioblastoma. (PubMed, Clin Cancer Res)
Genomic biomarkers based on functional variant analysis of a routine clinical panel may help identify adverse events in GBM, particularly seizures. Identifying these risk factors could improve the management of patients through better supportive care and consideration of prophylactic therapies.
Journal • Adverse events
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EGFR (Epidermal growth factor receptor) • TP53 (Tumor protein P53) • RB1 (RB Transcriptional Corepressor 1) • GNA11 (G Protein Subunit Alpha 11) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • TCF3 (Transcription Factor 3) • BRD4 (Bromodomain Containing 4)
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IDH wild-type
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OncoPanel™ Assay
11ms
Olaparib in Unresectable/Metastatic Melanoma With BRCA1/2 (clinicaltrials.gov)
P2; N=15 --> 0 | Recruiting --> Withdrawn
Enrollment change • Trial withdrawal • Metastases
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
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BRCA1 mutation • BRCA2 deletion • BRCA1 deletion
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OncoPanel™ Assay
|
Lynparza (olaparib)
11ms
COMRADE: Testing the Safety of Different Doses of Olaparib Given Radium-223 for Men With Advanced Prostate Cancer With Bone Metastasis (clinicaltrials.gov)
P1/2; Recruiting --> Suspended
Trial suspension • Tumor mutational burden
|
HRD (Homologous Recombination Deficiency) • CD4 (CD4 Molecule)
|
HRD
|
OncoPanel™ Assay
|
Lynparza (olaparib) • Xofigo (radium Ra-223 dichloride)
12ms
Implementing Tumour-First Genetic Testing and Parent-of-Origin-Aware Genomic Analysis into the Diagnostic Pipeline for Hereditary Breast Cancer (ACMG 2024)
By implementing next-generation sequencing into the diagnostic pipeline for breast cancer, we can identify more patients with hereditary breast cancer and expedite familial screening for breast cancer prevention. This pilot program will offer valuable insights for future implementation of tumour genetic testing on a larger scale in the province. Additionally, the results will provide evidence supporting the adoption of POAga as an alternative cascade genetic testing approach, leading to a 50% increase in efficiency, reduced financial burden, and emotional benefits for patients and their families.
Genomic analysis • BRCA Biomarker • Omic analysis
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
|
BRCA2 mutation • BRCA1 mutation • BRCA mutation
|
OncoPanel™ Assay
12ms
Prevalence and Therapeutic Targeting of High Level ERBB2 Amplification in Non-Small Cell Lung Cancer. (PubMed)
High level ERBB2 amplification reliably predicts HER2 amplification in NSCLC patients and HER2 ADC is effective therapy in this population.
Journal
|
OncoPanel™ Assay
|
Gilotrif (afatinib) • Kadcyla (ado-trastuzumab emtansine) • Enhertu (fam-trastuzumab deruxtecan-nxki)
1year
NIMBUS: Nivolumab Plus Ipilimumab in Metastatic Hypermutated HER2-negative Breast Cancer (clinicaltrials.gov)
P2; Trial completion date: Oct 2023 --> Jun 2024
Trial completion date • IO biomarker • Metastases
|
HER-2 (Human epidermal growth factor receptor 2) • PGR (Progesterone receptor) • TMB (Tumor Mutational Burden)
|
HR positive • HER-2 amplification • HER-2 negative • ER positive + PGR positive • PGR positive
|
MSK-IMPACT • OncoPanel™ Assay
|
Opdivo (nivolumab) • Yervoy (ipilimumab)
1year
A multicohort phase 2 trial of ADT, docetaxel plus nivolumab in patients with de novo metastatic hormone-sensitive prostate cancer enriched for inflamed tumors and DNA damage repair defects. (ASCO-GU 2024)
After January 2022, the addition of standard of care abiraterone/prednisone was allowed after 7 months of study treatment at investigator discretion. Clinical trial information: NCT04126070.PD-L1 Combined Positive Score (CPS) ≥ 1 and/or CD T cell density ≥ 200. Homozygous deletions and/or deleterious mutations in a DDR gene, including and not limited to BRCA2, ATM, CHECK2, BRCA1, PALB2, RAD51D, ATR, NBN, PMS2, GEN1, MLH1, MSH2, MSH6, RAD51C, MRE11A, BRIP1, FAM175A, and CDK12.
P2 data • Clinical • PD(L)-1 Biomarker • BRCA Biomarker • IO biomarker • Metastases
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PD-L1 (Programmed death ligand 1) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • CD8 (cluster of differentiation 8) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • CDK12 (Cyclin dependent kinase 12) • PMS2 (PMS1 protein homolog 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • MRE11A (MRE11 homolog, double strand break repair nuclease) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • ABRAXAS1 (Abraxas 1 BRCA1 A Complex Subunit 2) • GEN1 (GEN1 Holliday junction 5' flap endonuclease)
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PD-L1 expression • ATM mutation • PALB2 mutation • BRIP1 mutation • RAD51C mutation • RAD51D mutation • PMS2 mutation • MRE11A mutation • NBN mutation
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OncoPanel™ Assay
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Opdivo (nivolumab) • docetaxel • abiraterone acetate
1year
Benchmarking mismatch repair testing for patients with cancer receiving immunotherapy. (ASCO-GI 2024)
In 2022, 151,030 new CRC and 65,950 new EC cases were diagnosed in the USA. Extrapolating our findings to this larger population, use of NGS mutational signature analysis instead of IHC would amount to about 1510 additional MMR-D CRC cases and 3297 additional MMR-D endometrial cases identified each year for whom first-line ICI therapy is preferred. Our findings support revisiting guideline recommendations for diagnostic testing of MMR to incorporate both IHC and targeted NGS tumor panel testing using sensitive and specific mutation signature calling algorithms.
Clinical • IO biomarker • Mismatch repair
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MSI (Microsatellite instability)
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OncoPanel™ Assay
1year
COMRADE: Testing the Safety of Different Doses of Olaparib Given Radium-223 for Men With Advanced Prostate Cancer With Bone Metastasis (clinicaltrials.gov)
P1/2; Trial completion date: Nov 2023 --> Nov 2024 | Trial primary completion date: Nov 2023 --> Nov 2024
Trial completion date • Trial primary completion date • Tumor mutational burden
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HRD (Homologous Recombination Deficiency) • CD4 (CD4 Molecule)
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HRD
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OncoPanel™ Assay
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Lynparza (olaparib) • Xofigo (radium Ra-223 dichloride)
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