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Pathogenic TERTpromoter variants in telomere diseases

Authors :
Gutierrez-Rodrigues, Fernanda
Donaires, Flávia S.
Pinto, André
Vicente, Alana
Dillon, Laura W.
Clé, Diego V.
Santana, Barbara A.
Pirooznia, Mehdi
Ibanez, Maria del Pilar F.
Townsley, Danielle M.
Kajigaya, Sachiko
Hourigan, Christopher S.
Cooper, James N.
Calado, Rodrigo T.
Young, Neal S.
Source :
Genetics in Medicine; July 2019, Vol. 21 Issue: 7 p1594-1602, 9p
Publication Year :
2019

Abstract

The acquisition of pathogenic variants in the TERTpromoter (TERTp)region is a mechanism of tumorigenesis. In nonmalignant diseases, TERTpvariants have been reported only in patients with idiopathic pulmonary fibrosis (IPF) due to germline variants in telomere biology genes.

Details

Language :
English
ISSN :
10983600 and 15300366
Volume :
21
Issue :
7
Database :
Supplemental Index
Journal :
Genetics in Medicine
Publication Type :
Periodical
Accession number :
ejs59920031
Full Text :
https://doi.org/10.1038/s41436-018-0385-x