TERT promoter mutations in urothelial neoplasia
AssigneeThe Johns Hopkins University
InventorsBert Vogelstein, Kenneth W. Kinzler, Luis Diaz, Nickolas Papadopoulos, George J. Netto, Ralph Hruban, Isaac A. Kinde
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Abstract
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.
Claims14
A method of detecting a somatic mutation and treating bladder cancer in a human subject comprising:
- detecting in a nucleic acid obtained from a urine sample of the human subject the presence of a somatic mutation in a promoter of telomerase reverse transcriptase (TERT) gene, wherein the somatic mutation is present at position 1,295,228 on the minus strand of chromosome 5 of version hg19 of the human genome sequence,
- wherein the detecting is performed by amplifying a nucleic acid sequence comprising the TERT promoter, or a portion thereof, to form an amplicon and sequencing the amplicon;
- and
- treating the human subject with the somatic mutation in the TERT gene for bladder cancer by a therapy chosen from a chemotherapy, a biological agent, a surgery, or a radiation therapy.
A method of detecting, a somatic mutation and treating bladder cancer in a human subject comprising:
- detecting in a nucleic acid obtained from a urine sample of a human the presence of a somatic mutation at position 1,295,228 in the promoter of telomerase reverse transcriptase (TERT) gene on the minus strand of chromosome 5 of version hg19 of the human genome sequence,
- wherein the detecting is performed by amplifying a nucleic acid sequence comprising the TERT promoter, or a portion thereof, to form an amplicon and sequencing the amplicon;
- and
- treating the human subject with the somatic mutation in the TERT gene for bladder cancer by a therapy chosen from chemotherapy, a biological agent, a surgery or a radiation therapy, wherein the human subject has not been previously diagnosed with bladder cancer prior to collection of the urine sample.
Dependencies are inferred from the claim text.