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TCF12 is mutated in anaplastic oligodendroglioma. | LitMetric

AI Article Synopsis

  • * A study of 51 AO tumors through whole-exome sequencing revealed common mutations in CIC and FUBP1, along with newly identified recurrent mutations in TCF12 in an expanded group of 83 AO tumors.
  • * About 7.5% of AO tumors have TCF12 mutations, primarily affecting the bHLH domain crucial for its role as a transcription factor, leading to reduced TCF12 activity and more aggressive tumor behavior; this research sheds light on the genetic

Article Abstract

Anaplastic oligodendroglioma (AO) are rare primary brain tumours that are generally incurable, with heterogeneous prognosis and few treatment targets identified. Most oligodendrogliomas have chromosomes 1p/19q co-deletion and an IDH mutation. Here we analysed 51 AO by whole-exome sequencing, identifying previously reported frequent somatic mutations in CIC and FUBP1. We also identified recurrent mutations in TCF12 and in an additional series of 83 AO. Overall, 7.5% of AO are mutated for TCF12, which encodes an oligodendrocyte-related transcription factor. Eighty percent of TCF12 mutations identified were in either the bHLH domain, which is important for TCF12 function as a transcription factor, or were frameshift mutations leading to TCF12 truncated for this domain. We show that these mutations compromise TCF12 transcriptional activity and are associated with a more aggressive tumour type. Our analysis provides further insights into the unique and shared pathways driving AO.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4490400PMC
http://dx.doi.org/10.1038/ncomms8207DOI Listing

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