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    4ms
    Comprehensive genomic profiling of over 10,000 advanced solid tumors. (PubMed, Oncotarget)
    The broad capabilities of the OncoExTra assay detected therapeutically actionable and other clinically relevant genomic events that can inform clinical decision-making for patients with advanced solid tumors.
    Retrospective data • Journal
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    TERT (Telomerase Reverse Transcriptase)
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    OncoExTra™ test
    1year
    Frequency of FDA-Approved Companion Diagnostic Biomarkers in Solid Tumors (AMP 2024)
    Genomic profiling yields clinically actionable information for approved therapies and evidence of resistance, and it may uncover rational therapeutic opportunities regardless of tumor type.
    Tumor mutational burden • MSi-H Biomarker • BRCA Biomarker • BRCA Companion diagnostic • MSi-H Companion diagnostic • Companion diagnostic
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    HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • ER (Estrogen receptor) • ALK (Anaplastic lymphoma kinase) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • RET (Ret Proto-Oncogene) • PTEN (Phosphatase and tensin homolog) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • AKT1 (V-akt murine thymoma viral oncogene homolog 1)
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    BRAF V600E • KRAS mutation • BRCA2 mutation • TMB-H • MSI-H/dMMR • KRAS G12C • HER-2 negative • PIK3CA mutation • BRAF V600 • NTRK1 fusion • NTRK3 fusion • NTRK2 fusion • RET fusion • ROS1 fusion • KRAS G12 • KRAS exon 2 mutation • ALK-ROS1 fusion
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    OncoExTra™ test
    1year
    Low Limit of Detection Increases Detection and Reporting of Actionable Genomic Alterations (AMP 2024)
    The ability to detect SNVs and indels below 5% VAF increases the diagnostic yield of actionable genomic alterations. This enables additional patients to consider FDA-approved on-label targeted therapies as a treatment option. Taken together, CGP assays that couple high sensitivity and low LOD can maximize identification of therapeutically relevant alterations across solid tumor types.
    BRCA Biomarker
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    EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • FGFR3 (Fibroblast growth factor receptor 3) • AKT1 (V-akt murine thymoma viral oncogene homolog 1)
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    BRAF V600 • PTEN mutation
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    OncoExTra™ test
    1year
    Molecular landscape of breast cancer in pre- and postmenopausal women (SABCS 2024)
    The choice of endocrine therapy (ET) for women with hormone-receptor positive (HR+) BC varies based on whether she is premenopausal (preM) or postmenopausal (postM): tamoxifen is usually selected for preM women, while postM women receive aromatase inhibitors (AIs)... Our analysis uncovered therapeutically relevant differences in biomarker alterations between preM and postM BC. The higher frequency of ESR1 alterations in HR+/HER2- BC samples from postM women may indicate a resistance mechanism to AIs, as postM women with HR+ BC are commonly treated with this class of drugs. Additionally, the frequency of BRCA1 alterations was significantly higher in TNBC as well as HR+/HER2- preM BC.
    Clinical • BRCA Biomarker • BRCA Companion diagnostic
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    HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • CDH1 (Cadherin 1) • MAP3K1 (Mitogen-Activated Protein Kinase Kinase Kinase 1) • PPM1D (Protein Phosphatase Mg2+/Mn2+ Dependent 1D) • GATA3 (GATA binding protein 3)
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    BRCA1 mutation • HR positive • HER-2 negative
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    OncoExTra™ test
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    tamoxifen
    1year
    Actionable gene alterations affecting the PI3K/AKT and MAPK signaling pathways in breast cancer (SABCS 2024)
    They are increasingly important as targets for therapeutic intervention such as capivasertib-fulvestrant for HR+HER2- BC with PIK3CA/AKT1/PTEN alterations, or dabrafenib–trametinib for solid tumors with the BRAF V600E mutation. More than half of BC tumor samples had potentially actionable genomic alterations affecting either the PI3K/AKT or MAPK pathways. In HR+HER2- BC, actionable alterations in PIK3CA, AKT1, and PTEN were generally present independently rather than co-occurring. These findings support a comprehensive testing approach that interrogates a large number of genes to maximize the number of patients identified who might benefit from targeted therapies.
    HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • NF1 (Neurofibromin 1) • TSC2 (TSC complex subunit 2) • TSC1 (TSC complex subunit 1) • MAP3K1 (Mitogen-Activated Protein Kinase Kinase Kinase 1) • MAP2K4 (Mitogen-Activated Protein Kinase Kinase 4)
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    BRAF V600E • HER-2 negative • BRAF V600 • PTEN mutation • TSC1 mutation • TSC2 mutation
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    OncoExTra™ test
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    Mekinist (trametinib) • Tafinlar (dabrafenib) • fulvestrant • Truqap (capivasertib)
    1year
    The Sample Journey Through the OncoExTra® Tissue Genomic Profiling Test (AMP 2024)
    Sponsored By EXACT SCIENCES. Overview of sample type, sample selection, and quality control to deliver high fidelity, actionable results for therapy selection using whole-exome, whole-transcriptome, and patient-matched tumor normal sequencing for patients with advanced solid tumors.
    OncoExTra™ test
    over1year
    Exact Sciences to provide Mayo Clinic patients with individualized cancer tumor information to inform treatment (Exact Sciences Press Release)
    "Exact Sciences...announced the launch of an initiative with Mayo Clinic to provide comprehensive genomic profiling and hereditary cancer tests to patients. The initiative expands the collection of data accessible to Mayo Clinic researchers and clinicians to advance cancer research and patient care."
    Licensing / partnership
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    OncoExTra™ test • Riskguard™ Hereditary Cancer Test
    over1year
    Value of Next Generation Sequencing (NGS) testing in advanced cancer patients. (PubMed, J Med Econ)
    Limitations include the required simplifications in modeling complex conditions that may not fully reflect evolving real-world testing and treatment patterns. Compared to single-gene testing, results indicate that using NGS test such as OncoExTra identified more actionable alterations, leading to improved outcomes and reduced costs.
    Journal • Next-generation sequencing • Metastases
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    OncoExTra™ test
    almost2years
    ESR1 alterations in gynecologic cancers (SGO 2024)
    The whole-exome and whole-transcriptome sequencing approach identified both common and rare missense mutations and fusions. ESR1 alterations were present in tumors from 5.3 % of endometrial cancers and 2.7% of ovarian cancers. From a clinical perspective, the frequency of ESR1 alterations was similar between local and metastatic samples.
    ER (Estrogen receptor) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • ARID1A (AT-rich interaction domain 1A) • CCDC170(Coiled-Coil Domain Containing 170)
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    ESR1 mutation
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    OncoExTra™ test
    almost2years
    Oncogenic fusions in renal cell carcinoma. (ASCO-GU 2024)
    Whole-transcriptome sequencing allowed the identification of actionable fusions with the potential to affect clinical decisions regarding therapy in 2.8% of RCC patient tumors. In addition, one patient was found to have a fusion that is characteristic of a solitary fibrous tumor, demonstrating the power of genomic profiling to aid diagnosis.
    EGFR (Epidermal growth factor receptor) • FGFR2 (Fibroblast growth factor receptor 2) • EML4 (EMAP Like 4) • ERBB4 (erb-b2 receptor tyrosine kinase 4) • TFE3 (Transcription Factor Binding To IGHM Enhancer 3) • STAT6 (Signal transducer and activator of transcription 6) • MITF (Melanocyte Inducing Transcription Factor) • PRCC (Proline Rich Mitotic Checkpoint Control Factor) • NAB2 (NGFI-A Binding Protein 2)
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    EML4-ALK fusion • FGFR2 fusion • ALK fusion • FGFR fusion • TFE3 fusion
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    OncoExTra™ test
    almost2years
    NSABP C-14/Exact Sciences 16-002: CORRECT-MRD II—Second colorectal cancer clinical validation study to predict recurrence using a circulating tumor DNA assay to detect minimal residual disease. (ASCO-GI 2024)
    Support: NSABP Foundation, ExactSciences. Clinical trial information: NCT05210283.
    Clinical • Minimal residual disease • Circulating tumor DNA
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    OncoExTra™ test • Oncotype DX® Colon Recurrence Score test
    2years
    Classifying HER2-low breast cancer using a combination of ERBB2 mRNA expression and altered genes (SABCS 2023)
    Background It has been recently demonstrated that some HER2-low, defined as immunohistochemistry (IHC) 1+ or 2+ with no gene amplification by FISH, breast cancer (BC) patients respond to trastuzumab deruxtecan (T-DXd)...Table 1. Number (frequency) of altered genes by HER2 IHC status.
    HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • ER (Estrogen receptor) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • CDH1 (Cadherin 1) • HLA-B (Major Histocompatibility Complex, Class I, B) • MAP3K1 (Mitogen-Activated Protein Kinase Kinase Kinase 1) • GATA3 (GATA binding protein 3) • HLA-C (Major Histocompatibility Complex, Class I, C)
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    HER-2 positive • TP53 mutation • HR positive • HER-2 negative • PIK3CA mutation • HER-2 expression • PTEN mutation • HR positive + HER-2 negative • PTEN mutation + HR positive
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    OncoExTra™ test
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    Enhertu (fam-trastuzumab deruxtecan-nxki)