ID
45424
Description
Principal Investigator: Timothy A. Chan, MD, PhD, Memorial Sloan-Kettering Cancer Center, New York, NY MeSH: Cancer,Carcinoma, Adenoid Cystic https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000612 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.
Link
Keywords
Versions (1)
- 11/25/22 11/25/22 - Simon Heim
Copyright Holder
Timothy A. Chan, MD, PhD, Memorial Sloan-Kettering Cancer Center, New York, NY
Uploaded on
November 25, 2022
DOI
To request one please log in.
License
Creative Commons BY 4.0
Model comments :
You can comment on the data model here. Via the speech bubbles at the itemgroups and items you can add comments to those specificially.
Itemgroup comments for :
Item comments for :
In order to download data models you must be logged in. Please log in or register for free.
dbGaP phs000612 The mutational characterization of adenoid cystic carcinoma
Subject - Consent Information
Similar models
Subject - Consent Information
C0449416 (UMLS CUI [1,2])
C0681850 (UMLS CUI [1,3])
C0449416 (UMLS CUI [1,2])
C3847505 (UMLS CUI [1,3])