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Lung Cancer

Research & Diagnostics

Lung cancers are driven by SNVs in genes like EGFR as well as fusions in ALK, ROS1, RET and other genes. Since these mutations can be targeted by specific therapies, accurate and complete detection of variants in all these genes is important as companion diagnostics. TLA enables detection of all translocations and small mutations in these genes in a single DNA-based NGS test.

 

Monitoring

Among solid tumours, clinical development of ctDNA testing for therapy response monitoring is most advanced in lung cancer. Such tests are currently mostly based on the detection of SNVs. TLA uniquely enables detection of gene fusion breakpoint sequences at nucleotide resolution. Since gene fusions of ALK, ROS, NTRK, etc. are known to be cancer-driving clonal events, these breakpoint sequences are ideal markers for sensitive ctDNA testing with PCR.

 

Become a testing partner

We are currently further validating this application. Please contact us if you would like to become a testing partner. 

  • Application notes
  • Publications
  • Webinars
  • Application notes
  • Robust detection of structural variants and single nucleotide variants in FFPE
    Robust detection of structural variants and single nucleotide variants in FFPE
  • Publications
  • Sequencing Structural Variants in Cancer for Precision Therapeutics

    Macintyre G et al. (2016)                                                                                                            

    University of Cambridge & VU University Medical Center

  • Guidelines for cytogenetic investigations in tumours

    Hastings RJ et al. (2015)                                                                                                            

    Charles University Prague, CHUV, Great Ormond St Hospital, Gustave Roussy, Hospital del Mar, Institute of Genomic Medicine, Oslo University Hospital, Ospedale di Circolo-Polo Universitario, Our Lady's Children's Hospital, Oxford University Hospitals NHS Trust, Radboud University Medical Center, St James's Hospital, University of Cagliari, University of Groningen, University Hospital Ghent, UZ Leuven, VU University Medical Center

  • Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping

    De Vree PJP et al.  (2014)                                                                                                                             

    Cergentis, Erasmus Medical Center, Ghent University, Hubrecht Institute-KNAW, Leiden University Medical Center, The Netherlands Cancer Institute, Radboud University Medical Center, University of Amsterdam, University of Groningen, University Medical Center Utrecht & VIB

  • Targeted Locus Amplification (TLA): A Novel Next Generation Sequencing (NGS) Technology to Detect New Molecular Markers and Monitoring Minimal Residual Disease (MRD) in Mantle Cell and Follicular Lymphoma

    Genuardi E et al. (2017)                                                                                                            

    A.O.U. Citta della Salute e della Scienza di Torino, Azienda Ospedaliera SS Antonio e Biagio e Cesare Arrigo, Cergentis, Clinica Humanitas/Gavazzeni, University of Modena e Reggio Emilia & University of Torino

  • Personalized Medicine in Lymphoma: Tailoring Treatment According to Minimal Residual Disease

    Dogliotti I & Ferrero S (2017)                                                                                                            

    A.O.U. Citta della Salute e della Scienza di Torino & University of Torino

  • Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study

    Meisel C et al. (2017)                                                                                                            

    DKFZ, Medical Genetic Center Munich, National Center for Tumor Diseases (NCT), TU Dresden, University Kiel

  • Activating ESR1 Mutations Differentially Impact the Efficacy of ER Antagonists

    Toy W et al. (2016)                                                                                                                             

    AstraZeneca, Memorial Sloan Kettering Cancer Center, University of Chicago & University of Illinois at Urbana Champaign

  • Mechanisms of Therapy Resistance in Patient-Derived Xenograft Models of BRCA1-Deficient Breast Cancer

    Ter Brugge P et al. (2016)                                                                                                            

    Bellvitge Biomedical Research Institute Barcelona, Curie Institute, ICREA, Institute of Cancer Research London, The Netherlands Cancer Institute, University of Barcelona & University Medical Center Utrecht

  • Webinars
  • Applications and principles of TLA-based complete gene sequencing and haplotyping

     

  • Detection of NTRK fusion in colorectal cancer samples (together with Tom van Wezel). A TPM3-NTRK1 fusion was clearly detectable from the TLA data, while the NTRK3 locus is unaffected.
  • ALK fusions are frequently resulting from large inversions on the same chromosome. TLA results give a robust and clear view on the exact nature of the DNA rearrangement. Sample 1 has a straight inversion resulting in an EML4-ALK fusion and the reciprocal ALK-EML4 fusion. Sample 2 has an inversion with a large deletion, causing an EML4-ALK fusion and a reciprocal fusion product further downstream.
  • The exact positions of fusion breakpoints are very clear from the TLA data, and the breakpoint sequences are obtained at nucleotide resolution.
  • The exact positions of fusion breakpoints are very clear from the TLA data, and the breakpoint sequences are obtained at nucleotide resolution.
  • Detection of NTRK fusion in colorectal cancer samples (together with Tom van Wezel). A TPM3-NTRK1 fusion was clearly detectable from the TLA data, while the NTRK3 locus is unaffected.
  • ALK fusions are frequently resulting from large inversions on the same chromosome. TLA results give a robust and clear view on the exact nature of the DNA rearrangement. Sample 1 has a straight inversion resulting in an EML4-ALK fusion and the reciprocal ALK-EML4 fusion. Sample 2 has an inversion with a large deletion, causing an EML4-ALK fusion and a reciprocal fusion product further downstream.
  • The exact positions of fusion breakpoints are very clear from the TLA data, and the breakpoint sequences are obtained at nucleotide resolution.
  • The exact positions of fusion breakpoints are very clear from the TLA data, and the breakpoint sequences are obtained at nucleotide resolution.

TLA enables

  • Detection of all mutations and gene fusions
  • Analysis on FFPE or cells
  • Multiplexing to detect all relevant mutations in a single DNA-based test
  • Gene fusion breakpoint detection for personalised ctDNA test development
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For Research Use Only.Not for use in diagnostic procedures.