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Editorial
. 2013 Dec;126(6):789-92.
doi: 10.1007/s00401-013-1207-5.

Promoting a new brain tumor mutation: TERT promoter mutations in CNS tumors

Affiliations
Editorial

Promoting a new brain tumor mutation: TERT promoter mutations in CNS tumors

Zachary J Reitman et al. Acta Neuropathol. 2013 Dec.
No abstract available

PubMed Disclaimer

Conflict of interest statement

CONFLICT OF INTEREST

The authors declare that they have no conflict of interest.

Figures

Figure 1
Figure 1
TERT promoter mutations generate de novo ETS binding sites. The C228T mutation within the TERT promoter occurs 146 bp upstream of the ATG start codon of TERT, at chr5 1,295,228 (hg19). The C250T mutation occurs 126 bp upstream of the ATG start codon of TERT, at chr5 1,295,250. Both mutations generate a de novo sequence, 5’-CCCCTTCCGGG-3’, which contains the ETS transcription factor binding motif 5’-TTCC-3’. The new ETS motif may recruit transcription factors from the ETS family, some of which are downstream targets of MAP kinase signaling.

Comment on

  • TERT promoter mutations in primary and secondary glioblastomas.
    Nonoguchi N, Ohta T, Oh JE, Kim YH, Kleihues P, Ohgaki H. Nonoguchi N, et al. Acta Neuropathol. 2013 Dec;126(6):931-7. doi: 10.1007/s00401-013-1163-0. Epub 2013 Aug 17. Acta Neuropathol. 2013. PMID: 23955565
  • Distribution of TERT promoter mutations in pediatric and adult tumors of the nervous system.
    Koelsche C, Sahm F, Capper D, Reuss D, Sturm D, Jones DT, Kool M, Northcott PA, Wiestler B, Böhmer K, Meyer J, Mawrin C, Hartmann C, Mittelbronn M, Platten M, Brokinkel B, Seiz M, Herold-Mende C, Unterberg A, Schittenhelm J, Weller M, Pfister S, Wick W, Korshunov A, von Deimling A. Koelsche C, et al. Acta Neuropathol. 2013 Dec;126(6):907-15. doi: 10.1007/s00401-013-1195-5. Epub 2013 Oct 24. Acta Neuropathol. 2013. PMID: 24154961
  • TERT promoter mutations are highly recurrent in SHH subgroup medulloblastoma.
    Remke M, Ramaswamy V, Peacock J, Shih DJ, Koelsche C, Northcott PA, Hill N, Cavalli FM, Kool M, Wang X, Mack SC, Barszczyk M, Morrissy AS, Wu X, Agnihotri S, Luu B, Jones DT, Garzia L, Dubuc AM, Zhukova N, Vanner R, Kros JM, French PJ, Van Meir EG, Vibhakar R, Zitterbart K, Chan JA, Bognár L, Klekner A, Lach B, Jung S, Saad AG, Liau LM, Albrecht S, Zollo M, Cooper MK, Thompson RC, Delattre OO, Bourdeaut F, Doz FF, Garami M, Hauser P, Carlotti CG, Van Meter TE, Massimi L, Fults D, Pomeroy SL, Kumabe T, Ra YS, Leonard JR, Elbabaa SK, Mora J, Rubin JB, Cho YJ, McLendon RE, Bigner DD, Eberhart CG, Fouladi M, Wechsler-Reya RJ, Faria CC, Croul SE, Huang A, Bouffet E, Hawkins CE, Dirks PB, Weiss WA, Schüller U, Pollack IF, Rutkowski S, Meyronet D, Jouvet A, Fèvre-Montange M, Jabado N, Perek-Polnik M, Grajkowska WA, Kim SK, Rutka JT, Malkin D, Tabori U, Pfister SM, Korshunov A, von Deimling A, Taylor MD. Remke M, et al. Acta Neuropathol. 2013 Dec;126(6):917-29. doi: 10.1007/s00401-013-1198-2. Epub 2013 Oct 31. Acta Neuropathol. 2013. PMID: 24174164 Free PMC article.
  • TERT promoter mutations rather than methylation are the main mechanism for TERT upregulation in adult gliomas.
    Arita H, Narita Y, Takami H, Fukushima S, Matsushita Y, Yoshida A, Miyakita Y, Ohno M, Shibui S, Ichimura K. Arita H, et al. Acta Neuropathol. 2013 Dec;126(6):939-41. doi: 10.1007/s00401-013-1203-9. Epub 2013 Oct 31. Acta Neuropathol. 2013. PMID: 24174165 No abstract available.

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