TERT Promoter Mutations in Urothelial Neoplasia

摘要

TERT promoter mutations occur in both papillary and flat lesion bladder cancers, are the most frequent genetic alterations identified to date in noninvasive precursor lesions of the bladder, are detectable in urine, and appear to be strongly associated with bladder cancer recurrence. The TERT promoter mutations are useful urinary biomarker for both the early detection and monitoring of bladder neoplasia.

主权项

1. A method of testing a nucleic acid sample of a human, comprising:
testing a nucleic acid obtained from a urine sample of a human and determining presence of a somatic mutation in a promoter of a telomerase reverse transcriptase (TERT) gene.