Nature Communications (Jun 2017)
The genomic landscape of tuberous sclerosis complex
- Katie R. Martin,
- Wanding Zhou,
- Megan J. Bowman,
- Juliann Shih,
- Kit Sing Au,
- Kristin E. Dittenhafer-Reed,
- Kellie A. Sisson,
- Julie Koeman,
- Daniel J. Weisenberger,
- Sandra L. Cottingham,
- Steven T. DeRoos,
- Orrin Devinsky,
- Mary E. Winn,
- Andrew D. Cherniack,
- Hui Shen,
- Hope Northrup,
- Darcy A. Krueger,
- Jeffrey P. MacKeigan
Affiliations
- Katie R. Martin
- Center for Cancer and Cell Biology, Van Andel Research Institute
- Wanding Zhou
- Center for Epigenetics, Van Andel Research Institute
- Megan J. Bowman
- Bioinformatics and Biostatistics Core, Van Andel Research Institute
- Juliann Shih
- Cancer Program, Broad Institute of Harvard and MIT
- Kit Sing Au
- Department of Pediatrics, University of Texas Health Science Center at Houston-McGovern Medical School
- Kristin E. Dittenhafer-Reed
- Center for Cancer and Cell Biology, Van Andel Research Institute
- Kellie A. Sisson
- Center for Cancer and Cell Biology, Van Andel Research Institute
- Julie Koeman
- Cytogenetics and Pathology Core, Van Andel Research Institute
- Daniel J. Weisenberger
- Norris Comprehensive Cancer Center, University of Southern California
- Sandra L. Cottingham
- Department of Pathology, Spectrum Health System
- Steven T. DeRoos
- Division of Pediatric Neurology, Helen DeVos Children’s Hospital, Spectrum Health System
- Orrin Devinsky
- Department of Neurology, New York University School of Medicine
- Mary E. Winn
- Bioinformatics and Biostatistics Core, Van Andel Research Institute
- Andrew D. Cherniack
- Cancer Program, Broad Institute of Harvard and MIT
- Hui Shen
- Center for Epigenetics, Van Andel Research Institute
- Hope Northrup
- Department of Pediatrics, University of Texas Health Science Center at Houston-McGovern Medical School
- Darcy A. Krueger
- Division of Neurology, Cincinnati Children’s Hospital Medical Center
- Jeffrey P. MacKeigan
- Center for Cancer and Cell Biology, Van Andel Research Institute
- DOI
- https://doi.org/10.1038/ncomms15816
- Journal volume & issue
-
Vol. 8,
no. 1
pp. 1 – 13
Abstract
Tuberous sclerosis complex (TSC) is a rare genetic disease causing multisystem tumour growth. Here the authors analyse 111 TSC-associated tissues for TSC1/TSC2 status, DNA mutations, copy number aberrations, differential gene expression and DNA methylation patterns providing a comprehensive genomic landscape.
