Publications by authors named "V Csizmok"

Article Synopsis
  • * A study using a human mutation library identified certain unstable mutations that predominantly rely on the ubiquitin proteasome system for degradation and found that the co-chaperones DNAJA1 and DNAJA2 interact significantly with one of the mutated proteins.
  • * DNAJA2 plays a dual role: it stabilizes various normal proteins and specifically helps reduce the breakdown of some mutated proteins, highlighting how the protein quality control mechanisms adapt to handle misfolded proteins in the cytosol.
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Background: Loss-of-function (LOF) alterations in tumour suppressor genes cannot be directly targeted. Approaches characterising gene function and vulnerabilities conferred by such mutations are required.

Methods: Here, we computationally map genetic networks of KMT2D, a tumour suppressor gene frequently mutated in several cancer types.

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Article Synopsis
  • The Long-Read Personalized OncoGenomics (POG) dataset features 189 patient tumors and 41 matched normal samples, sequenced with Oxford Nanopore Technologies, providing a comprehensive resource for cancer research.
  • It highlights the advantages of long-read sequencing in identifying complex structural variants, viral integrations, and specific DNA behaviors, such as prominent methylation patterns associated with various cancers.
  • The findings underscore the potential of this dataset in precision medicine, serving as a tool for advancing analytical techniques in cancer genomics.
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Article Synopsis
  • * Histological analysis showed specific cell characteristics and confirmed the presence of the FUS::TFCP2 fusion, indicating a rare subtype of soft tissue sarcoma that can significantly influence treatment options.
  • * The patient responded rapidly to the ALK inhibitor alectinib, but the response was short-lived due to the advanced stage of the disease, highlighting the need for targeted therapies in such rare cancer cases.
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There is emerging evidence about the predictive role of homologous recombination deficiency (HRD), but this is less defined in gastrointestinal (GI) and thoracic malignancies. We reviewed whole genome (WGS) and transcriptomic (RNA-Seq) data from advanced GI and thoracic cancers in the Personalized OncoGenomics trial (NCT02155621) to evaluate HRD scores and single base substitution (SBS)3, which is associated with BRCA1/2 mutations and potentially predictive of defective HRD. HRD scores were calculated by sum of loss of heterozygosity, telomeric allelic imbalance, and large-scale state transitions scores.

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