Genetic and Functional Heterogeneity of Tumors in Neurofibromatosis 2
Abstract
The intent of this project is to integrate whole exome genetic and global expression data to identify genes that contribute to the formation, progression and heterogeneity of NF2-associated tumors. In year 1 we prepared and submitted for exome sequencing 126 samples representing paired human tumor (meningioma or schwannoma) and normal DNAs from the same individuals. We also prepared RNA from the same tumors for transcriptome sequencing. In year 2 we completed and began analysis of these datasets as well as RNA expression of a panel of isogenic arachnoidal cell lines either heterozygous or homozygous for inactivating NF2 mutation. These analyses have identified somatic mutations that implicate several candidate genes and cell pathways altered by NF2 mutation. The integration of these datasets is now underway to finalize and confirm genes and processes that contribute to NF2 tumor formation and assess their effects on cellular phenotypes.
Document Details
- Document Type
- Technical Report
- Publication Date
- May 01, 2015
- Accession Number
- ADA619349
Entities
People
- James F. Gusella
Organizations
- Massachusetts General Hospital