期刊
NATURE COMMUNICATIONS
卷 6, 期 -, 页码 -出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ncomms8207
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资金
- program 'Investissements d'avenir' [ANR-10-IAIHU-06]
- Genome Quebec
- le Ministere de l'Enseignement superieur, de la Recherche, de la Science et de la Technologie (MESRST) Quebec
- McGill University
- Cancer Research UK [C1298/A8362]
- Leukaemia Lymphoma Research
- Myeloma UK
- Ligue Nationale Contre le cancer
- Fondation ARC pour la Recherche sur le Cancer
- Institut National de la Sante et de la Recherche Medicale (INSERM)
- European Union (FP7-PEOPLE-CIG)
- Institut National du Cancer
- Cancer Research UK [15116] Funding Source: researchfish
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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