A Pan-Cancer Study of Somatic TERT Promoter Mutations and Amplification in 30,773 Tumors Profiled By Clinical Genomic Sequencing

Promoter mutations involving the TERT gene have been identified in multiple cancer types. Other TERT alterations remain poorly characterized.Sequencing data from 30,773 tumors analyzed by a hybridization capture next-generation sequencing assay (MSK- IMPACT) was analyzed for the presence of TERT alterations. Promoter rearrangements (500 bases upstream of the transcriptional start site), hypermethylation (n=57) and gene expression (n=155) was evaluated for a subset of cases.We identified mutually exclusive and recurrent promoter mutations at 3 hotspots upstream of the transcriptional start site in 11.3% of cases (-124: 74%; -146: 24%; -136:

https://www.jmdjournal.org/article/S1525-1578(20)30577-8/fulltext?rss=yes

Source: Journal of Molecular Diagnostics - December 4, 2020 Category: Pathology Authors: Sounak Gupta, Chad Vanderbilt, Yun-Te Lin, Jamal K. Benhamida, Achim A. Jungbluth, Satshil Rana, Amir M. Boroujeni, Jason C. Chang, Tiffany Mcfarlane, Paulo Salazar, Kerry Mullaney, Sumit Middha, Ahmet Zehir, Anuradha Gopalan, Tejus A. Bale, Ian Ganly, Ma Source Type: research