Fernanda Gutierrez-Rodrigues, Flávia S Donaires, André Pinto, Alana Vicente, Laura W Dillon, Diego V Clé, Barbara A Santana, Mehdi Pirooznia, Maria Del Pilar F Ibanez, Danielle M Townsley, Sachiko Kajigaya, Christopher S Hourigan, James N Cooper, Rodrigo T Calado, Neal S Young
PURPOSE: The acquisition of pathogenic variants in the TERT promoter (TERTp) region is a mechanism of tumorigenesis. In nonmalignant diseases, TERTp variants have been reported only in patients with idiopathic pulmonary fibrosis (IPF) due to germline variants in telomere biology genes. METHODS: We screened patients with a broad spectrum of telomeropathies (n = 136), their relatives (n = 52), and controls (n = 195) for TERTp variants using a customized massively parallel amplicon-based sequencing assay...
July 2019: Genetics in Medicine: Official Journal of the American College of Medical Genetics