Publications by authors named "Martin Burkert"

Telomere maintenance in neuroblastoma is linked to poor outcome and caused by either telomerase reverse transcriptase (TERT) activation or through alternative lengthening of telomeres (ALT). In contrast to TERT activation, commonly caused by genomic rearrangements or MYCN amplification, ALT is less well understood. Alterations at the ATRX locus are key drivers of ALT but only present in ∼50% of ALT tumors.

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Neuroblastoma is a pediatric solid tumor characterized by strong clinical heterogeneity. Although clinical risk-defining genomic alterations exist in neuroblastomas, the mutational processes involved in their generation remain largely unclear. By examining the topography and mutational signatures derived from all variant classes, we identified co-occurring mutational footprints, which we termed mutational scenarios.

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Article Synopsis
  • Diffuse midline gliomas (DMG) are aggressive brain tumors with poor survival rates and an unclear mechanism of invasion, linked to increased levels of the ID1 protein due to specific genetic mutations.
  • The study involved extensive genetic analyses and experiments to evaluate the role of ID1 in tumor growth and invasion, including tests with the compound cannabidiol (CBD).
  • Findings indicate that high ID1 expression correlates with tumor characteristics and enhances migration, while targeting ID1 with CBD effectively reduces tumor cell growth and movement, suggesting a potential therapeutic strategy for treating DMG.
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Intratumour heterogeneity is a major cause of treatment failure in cancer. We present in-depth analyses combining transcriptomic and genomic profiling with ultra-deep targeted sequencing of multiregional biopsies in 10 patients with neuroblastoma, a devastating childhood tumour. We observe high spatial and temporal heterogeneity in somatic mutations and somatic copy-number alterations which are reflected on the transcriptomic level.

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Extrachromosomal circularization of DNA is an important genomic feature in cancer. However, the structure, composition and genome-wide frequency of extrachromosomal circular DNA have not yet been profiled extensively. Here, we combine genomic and transcriptomic approaches to describe the landscape of extrachromosomal circular DNA in neuroblastoma, a tumor arising in childhood from primitive cells of the sympathetic nervous system.

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