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    1m
    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 • Companion diagnostic • BRCA Biomarker • MSi-H Biomarker • BRCA Companion diagnostic • MSi-H 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
    1m
    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
    2ms
    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)
    2ms
    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
    3ms
    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
    9ms
    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
    10ms
    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
    11ms
    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
    1year
    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
    1year
    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
    1year
    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)
    1year
    Comparison of whole exome, whole transcriptome genomic profiling and targeted sequencing with 50-gene panels (SABCS 2023)
    BC patients (pts) with actionable alterations missed by each 50-gene panel. NS = subtype not specified.
    Tumor mutational burden • BRCA Biomarker
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    HER-2 (Human epidermal growth factor receptor 2) • TMB (Tumor Mutational Burden) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • PTEN (Phosphatase and tensin homolog) • CCND1 (Cyclin D1) • FGF3 (Fibroblast growth factor 3) • MAP3K1 (Mitogen-Activated Protein Kinase Kinase Kinase 1)
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    OncoExTra™ test
    1year
    Prevalence of genomic alterations in Xerna tumor microenvironment subtypes in triple negative breast cancer patients (SABCS 2023)
    The Xerna TME Panel classified 49.3% of TNBC patient tumors to IA or IS, suggesting they may respond to ICI therapy. Many (56.2%) patient tumors harbored alterations associated with FDA-approved therapies, providing the potential for novel combination therapies. These findings warrant further study and clinical validation in TNBC patients treated with ICI therapy.
    Clinical • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
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    PD-L1 (Programmed death ligand 1) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS1 (PMS1 protein homolog 1)
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    TMB-H • PMS1 mutation
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    OncoExTra™ test • Xerna TME™ Panel
    1year
    Cell Cycle Regulators Across Solid Tumors (AMP 2023)
    Across solid tumors, alterations associated with sensitivity to CDK4/6 inhibitors varied widely in frequency. Though the frequency of alterations in CDK4/6 inhibitor resistance genes was generally low, identifying such patients may be critical for decisions regarding the use of CDK4/6 inhibitors.
    Tumor mutational burden
    |
    EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • ARID1A (AT-rich interaction domain 1A) • CCND1 (Cyclin D1) • CCNE1 (Cyclin E1) • MTAP (Methylthioadenosine Phosphorylase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • FGF3 (Fibroblast growth factor 3)
    |
    TMB-H • HER-2 negative • CCNE1 mutation
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    OncoExTra™ test
    1year
    Therapy-Focused Germline Analysis in Tumor-Normal Sequencing for Advanced Cancer Patients. (AMP 2023)
    In this patient population, germline DNA sequencing increases the detection of clinically actionable variants. The frequency of germline variants identified was similar irrespective of whether a somatic alteration was identified.
    Clinical • PARP Biomarker • BRCA Biomarker • Metastases
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • CHEK2 (Checkpoint kinase 2) • MUTYH (MutY homolog)
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    OncoExTra™ test
    1year
    Exact Sciences advances early cancer detection and precision oncology programs with data presentations at ESMO 2023 annual congress (Exact Sciences Press Release)
    "Exact Sciences Corp...announced it will present new data supporting the company's research in early cancer detection, genomic testing, and treatment guidance at the 2023 European Society for Medical Oncology (ESMO) Congress, October 20-24, in Madrid, Spain."
    Clinical data
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    Cancerguard™ • OncoExTra™ test
    1year
    Prevalence of genomic alterations in XernaTM tumor microenvironment subtypes in colorectal cancer patients (SITC 2023)
    5%) patients harbored alterations associated with FDA-approved therapies, providing the potential for novel combination therapies. 3 These findings warrant further study and clinical validation in CRC patients treated with ICI therapy.
    Clinical • Tumor mutational burden • MSi-H Biomarker • IO biomarker
    |
    KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TMB (Tumor Mutational Burden) • NRAS (Neuroblastoma RAS viral oncogene homolog) • MSI (Microsatellite instability)
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    TMB-H • MSI-H/dMMR • TMB-L
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    OncoExTra™ test • Xerna TME™ Panel
    over1year
    Agilent Technologies and Exact Sciences agree to terms of sale for Resolution Bioscience (Agilent Technologies Press Release)
    "Agilent Technologies...and Exact Sciences Corp...announced they have entered into a definitive agreement for the sale of Resolution Bioscience to Exact Sciences. Financial terms of the agreement were not disclosed and are not material to either party."
    Licensing / partnership
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    OncoExTra™ test
    over1year
    Exact Sciences lab and Oncoextra test selected by national cancer institute for Combomatch clinical trials (Exact Sciences Press Release)
    "Exact Sciences Corp...announced that the National Cancer Institute (NCI) has selected the company's testing laboratory in Phoenix, AZ to participate in the ComboMATCH clinical trials, one of the NCI-funded precision medicine initiatives. As a ComboMATCH-designated lab, Exact Sciences will use its new OncoExTra test to analyze tumor tissue and paired normal blood samples from patient participants and uncover the specific abnormalities in a patient's tumor that may be most effective to treat."
    Clinical data
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    OncoExTra™ test
    over1year
    Frequency of actionable fusions in 7,735 patients with solid tumors (ESMO 2023)
    Sarcomas had a high proportion of fusions, including those with therapeutic, diagnostic and prognostic relevance. Table: 183P Gene fusions in select tumor types
    Clinical
    |
    HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • ALK (Anaplastic lymphoma kinase) • FGFR (Fibroblast Growth Factor Receptor) • NTRK (Neurotrophic receptor tyrosine kinase) • SS18 (SS18 Subunit Of BAF Chromatin Remodeling Complex) • DUX4 (Double Homeobox 4) • PAX3 (Paired Box 3)
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    OncoExTra™ test
    over1year
    Genomic profiling of biliary tract carcinomas by their location. (ASCO 2023)
    Comprehensive genomic profiling of biliary tract cancers identifies numerous targetable alterations. The distribution of altered genes varies, suggesting that appropriate therapies may differ by location, reflecting different lineage types. >
    Tumor mutational burden • BRCA Biomarker • IO biomarker
    |
    KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • FGFR2 (Fibroblast growth factor receptor 2) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • FGFR3 (Fibroblast growth factor receptor 3) • FGFR1 (Fibroblast growth factor receptor 1) • ARID2 (AT-Rich Interaction Domain 2)
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    BRAF V600E • BRCA2 mutation • BRCA1 mutation • TMB-H • BRAF V600 • FGFR1 amplification • FGFR2 mutation • FGFR2 fusion
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    OncoExTra™ test
    over1year
    Exact Sciences presents advancements in cancer detection at American association for cancer research 2023 annual meeting (Exact Sciences Press Release)
    "Exact Sciences Corp...announced that it will present new data highlighting the company's novel technology and approaches to early cancer detection at the American Association for Cancer Research (AACR) Annual Meeting 2023, April 14-19, in Orlando, Florida."
    Clinical data
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    OncoExTra™ test
    almost2years
    CLDN18/ARHGAP26 fusions in gastric cancers (AACR 2023)
    Five of the 6 tumors had additional oncogenic alterations associated with cell proliferation. Given its frequency in poorly differentiated gastric cancer with metastatic potential, as well as its prevalence in a relatively young cohort, this fusion is an attractive target for ongoing drug development.
    Tumor mutational burden
    |
    HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • MET (MET proto-oncogene, receptor tyrosine kinase) • ARID1A (AT-rich interaction domain 1A) • CLDN18 (Claudin 18) • PBRM1 (Polybromo 1) • WRN (WRN RecQ Like Helicase)
    |
    HER-2 mutation • MET amplification • ARID1A mutation • TMB-L • PBRM1 mutation
    |
    OncoExTra™ test
    almost2years
    Value of Next Generation Sequencing (NGS) Using the Oncoextra Test in Advanced Cancer Patients (ISPOR 2023)
    Among patients with advanced/metastatic NSCLC, breast, prostate, and CRC using a WES/WTS NGS test such as the OncoExTra test increases alterations identified with minimal budget impact.
    Clinical • Next-generation sequencing • Metastases
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    OncoExTra™ test
    almost2years
    Exact Sciences launches OncoExTra™ cancer therapy selection test in the U.S. (Exact Sciences Press Release)
    "Exact Sciences Corp...announced the launch of the OncoExTra™ therapy selection test in the United States. OncoExTra is a next-generation sequencing (NGS), comprehensive DNA and RNA based genomic test providing doctors and their patients a complete molecular picture of the patient's cancer. The test provides reliable and actionable results personalized to each patient."
    Launch US
    |
    OncoExTra™ test