TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal

By Patrick J. Killela, Zachary J. Reitman, Y. Jiao, C. Bettegowda, N. Agrawal, L. Diaz, A. Friedman, H. Friedman, G. Gallia, B. Giovanella and 27 more. Proceedings of the National Academy of Sciences of the United States of America, 2013

1,326 citations recorded by the source corpus.

Subfields: Biotechnology, Molecular Biology, Physiology

View Paper: https://www.semanticscholar.org/paper/c8ddaba174cdacfa70b77c00740dff7882d55056

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Eric S. Lander

Citations in the corpus

Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics (2013, background): “Recently, three studies reported noncoding driver mutations in the TERT promoter in multiple tumor types, including melanomas and gliomas (10-12).”
Neuroblastoma and MYCN (2013, background): “…different types of tumors with respect to the frequency of mutations within the telomerase reverse transcriptase (TERT) promoter, with neural tumors (e.g., glioblastoma, oligodendroglioma, and medulloblastoma), particularly in older patients, showing the highest occurrences (Killela et al. 2013).”
Genome Sequencing of SHH Medulloblastoma Predicts Genotype-Related Response to Smoothened Inhibition (2014, background): “(B) GISTIC2 significance plots of amplifications (red) and deletions (blue) observed regions have been indicated. various cancers, including medulloblastoma, of mainly adult patients (Killela et al., 2013; Koelsche et al., 2013; Remke et al., 2013).”
FunSeq2: a framework for prioritizing noncoding regulatory variants in cancer (2014, background): “Meanwhile, gain of new binding sites caused by somatic mutations can constitute driver events [7-10].”
Epidemiologic and Molecular Prognostic Review of Glioblastoma (2014, background): “Primary GBMs show EGFR overexpression, phosphatase and tensin homolog gene (PTEN) mutations, loss of heterozygosity (LOH) 10q, p16 deletions, less frequently mouse doubleminute 2 (MDM2) amplification, high frequency of telomerase reverse transcriptase (hTERT) promoter mutations and absence of IDH1 m”
The Somatic Genomic Landscape of Glioblastoma (2013, background): “Telomerase reverse transcriptase (TERT) promoter mutations were recently reported in glioma, mapping to positions 124 (C228T) and 146 bp (C250T) upstream of the TERT ATG start site (Killela et al., 2013).”
Glioblastoma: pathology, molecular mechanisms and markers (2015, background): “1 3 liposarcomas, bladder cancer, and gliomas [53, 67, 81, 86, 167].”
Frequency of TERT promoter mutations in human cancers (2013, result): “As described by Killela et al.3, TERT mutations can be relevant in tissues with relative low rates of self-renewal, which fits with our findings in follicular cell-derived thyroid cancer and gliomas where they are associated with the older age of the patients.”