PXD014795

PXD014795 is an original dataset announced via ProteomeXchange.

Title	Frequent mutations on amino-terminal BCL7A domain compromise its tumor suppressor role in DLBCL.
Description	Mutations in genes encoding the various subunits of the SWI/SNF chromatin remodeling complex are frequently observed in different human cancers. In diffuse large B-cell lymphoma (DLBCL), genetic changes in BCL7A, a subunit of the SWI/SNF complex, have been recently reported but the functional role of such genetic changes remains unknown. BCL7A mutations concentrate at the first exon and the most frequently mutated hotspot is the splice donor site of the first intron. By using in vitro and in vivo analyses, we show that restoration of BCL7A drives a tumor suppressor-like phenotype. Further, we found that splice site mutations block the tumor suppressor phenotype and prevent BCL7A from binding to the SWI/SNF complex. Finally, we identified that the SWI/SNF complex accumulates mutations in a third of DLBCL tumors, especially in the GCB subtype. These discoveries highlight the tumor suppressor role of BCL7A mutations in DLBCL, and suggest that the SWI/SNF complex is involved in DLBCL pathogenesis.
HostingRepository	PRIDE
AnnounceDate	2020-10-21
AnnouncementXML	Submission_2020-10-21_02:15:53.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Elvira Fdez
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	No PTMs are included in the dataset
Instrument	Q Exactive

Revision	Datetime	Status	ChangeLog Entry
0	2019-07-29 01:59:49	ID requested
⏵ 1	2020-10-21 02:15:54	announced

Bali, ñ, as-Gavira C, Rodr, í, guez MI, Andrades A, Cuadros M, Á, lvarez-P, é, rez JC, Á, lvarez-Prado Á F, de Y, é, benes VG, S, á, nchez-Hern, á, ndez S, Fern, á, ndez-Vigo E, Mu, ñ, oz J, Mart, í, n F, Ramiro AR, Mart, í, nez-Climent JA, Medina PP, Frequent mutations in the amino-terminal domain of BCL7A impair its tumor suppressor role in DLBCL. Leukemia, 34(10):2722-2735(2020) [pubmed]

submitter keyword: BCL7A, SWI/SNF, DLBCL

Javier Muñoz
contact affiliation	CNIO
contact email	jmunozpe@cnio.es
lab head
Elvira Fdez
contact affiliation	CNIO
contact email	efvigo@cnio.es
dataset submitter

Dataset FTP location NOTE: Most web browsers have now discontinued native support for FTP access within the browser window. But you can usually install another FTP app (we recommend FileZilla) and configure your browser to launch the external application when you click on this FTP link. Or otherwise, launch an app that supports FTP (like FileZilla) and use this address: ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2020/10/PXD014795

PRIDE project URI

• PRIDE
  1. PXD014795
     1. Label: PRIDE project
     2. Name: Frequent mutations on amino-terminal BCL7A domain compromise its tumor suppressor role in DLBCL.