Somatic mutations in ATRX in brain cancer

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United States of America Patent

PATENT NO 9982306
SERIAL NO

14129850

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Abstract

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We determined the sequence of ATRX and DAXX in 447 cancers from various sites. We found mutations most commonly in pediatric glioblastoma multiformae (GBM) (11.1%), adult GBM (6.5%), oligodendrogliomas (7.7%) and medulloblastomas (1.5%); and showed that Alternative Lengthening of Telomeres (ALT), a telomerase-independent telomere maintenance mechanism found in cancers that have not activated telomerase, perfectly correlated with somatic mutations of either gene. In contrast, neuroblastomas, and adenocarcinomas of the ovary, breast, and pancreas were negative for mutations in ATRX and DAXX. Alterations in ATRX or DAXX define a specific molecular pathway that is closely associated with an alternative telomere maintenance function in human cancers.

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Patent Owner(s)

  • DUKE UNIVERSITY; THE JOHNS HOPKINS UNIVERSITY

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Inventor(s)

Inventor Name Address # of filed Patents Total Citations
Bigner, Darell Mebane, US 43 327
Diaz, Luis Ellicott City, US 69 459
Hruban, Ralph Baltimore, US 21 48
Jiao, Yuchen Baltimore, US 11 3
Kinzler, Kenneth W Baltimore, US 281 4771
Meeker, Alan Pikesville, US 2 2
Papadopoulos, Nickolas Towson, US 89 1070
Vogelstein, Bert Baltimore, US 323 6299
Yan, Hai Chapel Hill, US 83 895

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