Ontology highlight
ABSTRACT: Meningiomas are the most common primary brain tumor in the US. Although the tumor suppressor gene NF2 is disrupted in approximately half of meningiomas, the complete spectrum of genetic changes in meningiomas remains poorly understood, particularly in the large subset of tumors without NF2 alterations. Therefore we performed whole-genome sequencing from 11 Grade I meningioma tumor-normal pairs and whole-exome sequencing from an additional 6 tumor-normal pairs to identify somatic mutations, insertions-deletions, copy-number alterations and rearrangements. We validated our results by performing focused sequencing across 48 additional meningiomas.
PROVIDER: phs000552.v1.p1 | EGA |
REPOSITORIES: EGA
Brastianos Priscilla K PK Horowitz Peleg M PM Santagata Sandro S Jones Robert T RT McKenna Aaron A Getz Gad G Ligon Keith L KL Palescandolo Emanuele E Van Hummelen Paul P Ducar Matthew D MD Raza Alina A Sunkavalli Ashwini A Macconaill Laura E LE Stemmer-Rachamimov Anat O AO Louis David N DN Hahn William C WC Dunn Ian F IF Beroukhim Rameen R
Nature genetics 20130120 3
Meningiomas are the most common primary nervous system tumor. The tumor suppressor NF2 is disrupted in approximately half of all meningiomas, but the complete spectrum of genetic changes remains undefined. We performed whole-genome or whole-exome sequencing on 17 meningiomas and focused sequencing on an additional 48 tumors to identify and validate somatic genetic alterations. Most meningiomas had simple genomes, with fewer mutations, rearrangements and copy-number alterations than reported in o ...[more]