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The mutational characterization of adenoid cystic carcinoma

UID: 11297

Author(s): Chan, Timothy A.* * MSK affiliated

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."
Subject(s)
OncoTree Cancer Type(s)
Adenoid Cystic Carcinoma
Access via dbGaP


Accession #: phs000612.v1.p1

Access Restrictions
Application Required
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Associated Publications
Equipment Used
Affymetrix snp 6.0
Illumina HiSeq 2000
Dataset Format(s)
PDF, XML, TAR, gzip, TXT
Dataset Size
504.34 MB
Data Catalog Record Updated
2024-07-10