Characterization and Impact of TERT Promoter Region Mutations on Clinical Outcome in Renal Cell Carcinoma.

ABSTRACT:

Background

Mutations in the promoter region of the TERT gene have been detected in a variety of cancers. These mutations can potentially lead to unlimited cell divisions and result in poor clinical prognosis.

Objective

To determine the role and relevance of TERT promoter region mutations in both clear cell (ccRCC) and non-clear cell (nccRCC) renal cell carcinoma using ultra-deep and whole-genome sequencing methods on primary tumor samples.

Design, setting, and participants

DNA from 281 kidney tumors (147 ccRCC and 134 nccRCC) was sequenced between 2013 and 2015, and clinical outcomes for these patients from a single institution were retrospectively analyzed.

Outcome measurements and statistical analysis

Differences in patient characteristics and mutational stat

SUBMITTER: Casuscelli J 

PROVIDER: S-EPMC5984188 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature