학술논문
Somatic TERTpromoter Mutations in a Broad Spectrum of Telomeropathies
Document Type
Article
Author
Source
Blood; November 2018, Vol. 132 Issue: 1, Number 1 Supplement 1 p539-539, 1p
Subject
Language
ISSN
00064971; 15280020
Abstract
Telomerase reactivation by acquisition of mutations in the TERTpromoter (TERTp)region is a mechanism of tumorigenesis. The most common TERTpmutations are located in positions -146, -124, and -57 upstream the initiation codon. In non-malignant diseases, TERTpmutations only have been reported in patients with idiopathic pulmonary fibrosis (IPF) caused by germline mutations in telomere biology genes, that are also etiologic in a broader spectrum of diseases collectively named telomeropathies (such as IPF, aplastic anemia [AA], dyskeratosis congenita [DC], and cirrhosis).