The Johns Hopkins University

Duke University

Alan Meeker

Bert Vogelstein

Kenneth W Kinzler

Nickolas Papadopoulos

Darell D Bigner

Hai Yan

Luis Diaz

Ralph Hruban

Yuchen Jiao

Nickolas Papadapoulos

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.

Somatic mutations in ATRX in brain cancer

Growing community of inventors

Pikesville, MD, United States of America

Alan Meeker