ID
45424
Beschreibung
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
Stichworte
Versionen (1)
- 25.11.22 25.11.22 - Simon Heim
Rechteinhaber
Timothy A. Chan, MD, PhD, Memorial Sloan-Kettering Cancer Center, New York, NY
Hochgeladen am
25. November 2022
DOI
Für eine Beantragung loggen Sie sich ein.
Lizenz
Creative Commons BY 4.0
Modell Kommentare :
Hier können Sie das Modell kommentieren. Über die Sprechblasen an den Itemgruppen und Items können Sie diese spezifisch kommentieren.
Itemgroup Kommentare für :
Item Kommentare für :
Um Formulare herunterzuladen müssen Sie angemeldet sein. Bitte loggen Sie sich ein oder registrieren Sie sich kostenlos.
dbGaP phs000612 The mutational characterization of adenoid cystic carcinoma
Subject - Consent Information
Ähnliche Modelle
Subject - Consent Information
C0449416 (UMLS CUI [1,2])
C0681850 (UMLS CUI [1,3])
C0449416 (UMLS CUI [1,2])
C3847505 (UMLS CUI [1,3])