promoter mutations in gliomas and a subset of tumors

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United States of America

PATENT NO 11306364
APP PUB NO 20200399708A1
SERIAL NO

16928164

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We surveyed 1,230 tumors of 60 different types and found that tumors could be divided into types with low (<15%) and high (≥15%) frequencies of TERT promoter mutations. The nine TERT-high tumor types almost always originated in tissues with relatively low rates of self renewal, including melanomas, liposarcomas, hepatocellular carcinomas, urothelial carcinomas, squamous cell carcinomas of the tongue, medulloblastomas, and subtypes of gliomas (including 83% of primary glioblastoma, the most common brain tumor type). TERT and ATRX mutations were mutually exclusive, suggesting that these two genetic mechanisms confer equivalent selective growth advantages. In addition to their implications for understanding the relationship between telomeres and tumorigenesis, TERT mutations provide a biomarker for the early detection of urinary tract and liver tumors and aid in the classification and prognostication of brain tumors.

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Patent Owner(s)

Patent OwnerAddress
DUKE UNIVERSITY2812 ERWIN ROAD SUITE 306 DURHAM NC 27705

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Inventor(s)

Inventor Name Address # of filed Patents Total Citations
Bettegowda, Chetan Lutherville, US 16 38
Bigner, Darell D Mebane, US 42 190
Jiao, Yuchen Columbia, US 11 5
Killela, Patrick J Durham, US 2 0
Kinzler, Kenneth W Baltimore, US 296 5437
Papadopoulos, Nickolas Towson, US 104 1312
Reitman, Zachary J Durham, US 2 0
Vogelstein, Bert Baltimore, US 338 7135
Yan, Hai Durham, US 85 1001

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