The mutational characterization of adenoid cystic carcinoma
UID: 11297
- Description
- Description from dbGaP:
"Adenoid cystic carcinoma (ACC) typically emanate from the major and minor salivary glands of the head and neck. ACCs have high rates of perineural invasion, locoregional recurrence, and distant metastasis. Here we report sequencing of 60 tumor/normal pairs and find substantial mutational diversity. On pathway analysis, a significant percentage of mutations involved chromatin remodeling, DNA damage, protein kinase A signaling, and FGF/IGF/PI3K signaling. Whole genome sequencing and FISH confirmed the MYB-NFIB translocation as the main structural variant in ACC. Evaluation of potential driver mutations KDM6A and PIK3CA reveal that specific, observed alterations impart functional consequences. Collectively, our data delineate the ACC mutational landscape and establish a molecular foundation for investigating new therapies for this disease."
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Access via dbGaP
Accession #: phs000612.v1.p1 - Access Restrictions
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Application Required
- Access Instructions
- Full access to this dataset in dbGaP requires authorization through an Authorized Access Portal which can be requested for either 'data download' or 'view only'. Individual level data download requires a project request. With dbGaP DataBrowser approval, users may view the compilation of individual-level data of general research use. Upon approval, data can be downloaded. To view the data available with Authorized Access, click the link 'list of components' in the Authorized Access section. Upon approval, data can be downloaded.
Publicly available data such as data dictionaries, variable summaries, documents and truncated analysis are available the public download site FTP link. - Associated Publications
- Equipment Used
- Dataset Format(s)
- PDF, XML, TAR, gzip, TXT
- Dataset Size
- 504.34 MB
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