Solid tumors

Structural variation detection in solid tumors

Research & Diagnostics

Any genes or gene panels for which complete sequencing is relevant to detect both small mutations and structural variants, can be targeted with TLA.

Examples of analyses that can benefit from TLA:

  • Detection of gene fusions with recurrent and novel fusion partners
  • Complete sequencing of tumor suppressor genes such as BRCA1/2, TP53 to detect all mutations, including intronic and promoter events and structural variation
  • Detection of viral integrations in the human (cancer) genome
  • Analyses of complex rearrangements, genomic events underlying CNVs and novel resistance mechanisms

 

Identification of clinically actionable somatic variants

Type of Structural change

Cancer types

Application space

Potential unmet need

Gene fusion

Lung, Colorectal, Bladder, Leukemia, NTRK fusions

ALK, ROS, RET, FGFR, NTRK

Provide DNA based alternative & improve quality of gene fusion detection

Promoter rearrangement

Lymphoma, Leukemia, Multiple myeloma

IGH, MYC, BCL2&6

Replace FISH

Intragenic SVs

Breast, Prostate, Ovarian, Colorectal, Pediatric

BRCA, TP53, Copy number alterations

Enable detection of all mutations including SVs

 

TLA in combination with existing approaches offers key competitive advantages

Integration into workflows of current panels

  • PCR based enrichment
  • Capture based enrichment
  • In the same workflow

Offering competitive advantages over current panels

  • Enabling detection of currently occult actionable somatic variants
  • Potentially increasing diagnostic yield for treatment eligibility

With compelling ease of use

  • All variants including gene fusions detected on DNA

 

CONTACT US

 

 

Whole genome coverage plots generated with TLA and standard capture. The obtained sequencing coverage is much wider for proximity ligated samples than for standard targeting procedures, which enables the robust detection of structural variants.
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.
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For Research Use Only.Not for use in diagnostic procedures.
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