ID

45676

Description

Principal Investigator: Irv L. Weissman, MD, Stanford University Medical School, Stanford, CA, USA MeSH: Breast Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001264 CD47 is a cell surface molecule that inhibits phagocytosis of cells that express it by binding to its receptor, SIRPα, on macrophages and other immune cells. CD47 is expressed at different levels in normal cells, however, in cancer cells, CD47 transcript and protein expression is aberrantly increased. Here we sought to uncover the regulators of *CD47* transcription, including active enhancers that increase its aberrant expression in cancer cells, in order to reveal mechanisms by which different neoplastic cells generate this dominant 'don't eat me' signal. Enhancers are genomic regions, often referred to as "switches", that can turn on or off the transcription of target genes. Recently the discovery of super-enhancers (SEs) has given more insight into the regulatory architecture of key genes that are highly expressed in a specific cell type, during a particular developmental stage or in disease. By analyzing the *CD47* regulatory genomic landscape, we discovered: i) A distinct super-enhancer (SE) is associated with *CD47* upregulation in breast cancer cells ii) Disruption of *CD47* SEs by using the BRD4 inhibitor JQ1 robustly reduces *CD47* gene expression; and iii) The TNF-NFKB1 signaling pathway is directly involved in the regulation of CD47 by interacting with a distal downstream constituent enhancer located within a *CD47*-associated SE specific to breast cancer. Our results describe a novel mechanism that cancer cells have evolved to drive CD47 overexpression to escape immune surveillance.

Link

dbGaP study = phs001264

Keywords

  1. 4/15/23 4/15/23 - Simon Heim
Copyright Holder

Irv L. Weissman, MD, Stanford University Medical School, Stanford, CA, USA

Uploaded on

April 15, 2023

DOI

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License

Creative Commons BY 4.0

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dbGaP phs001264 A Super-Enhancer Associated with CD47 in Breast Cancer

The subject consent data table contains subject IDs, consent group information, subject aliases, and affection status of subjects for breast cancer.

pht007899
Description

pht007899

Alias
UMLS CUI [1,1]
C3846158
Subject ID
Description

SUBJECT_ID

Data type

string

Alias
UMLS CUI [1,1]
C2348585
Consent group as determined by DAC
Description

CONSENT

Data type

text

Alias
UMLS CUI [1,1]
C0021430
UMLS CUI [1,2]
C0441833
Source repository where subjects originate
Description

SUBJECT_SOURCE

Data type

string

Alias
UMLS CUI [1,1]
C3847505
UMLS CUI [1,2]
C0449416
UMLS CUI [1,3]
C0681850
Subject ID used in the Source Repository
Description

SOURCE_SUBJECT_ID

Data type

string

Alias
UMLS CUI [1,1]
C2348585
UMLS CUI [1,2]
C3847505
UMLS CUI [1,3]
C0449416
Case control status of the subject for breast cancer
Description

AFFECTION_STATUS

Data type

text

Alias
UMLS CUI [1,1]
C3274646

Similar models

The subject consent data table contains subject IDs, consent group information, subject aliases, and affection status of subjects for breast cancer.

Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht007899
C3846158 (UMLS CUI [1,1])
SUBJECT_ID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
Item
Consent group as determined by DAC
text
C0021430 (UMLS CUI [1,1])
C0441833 (UMLS CUI [1,2])
Code List
Consent group as determined by DAC
CL Item
General Research Use (GRU) (1)
C0021430 (UMLS CUI [1,1])
C0242481 (UMLS CUI [1,2])
CL Item
Disease-Specific (Breast Cancer, MDS) (DS-BRCA-MDS) (2)
SUBJECT_SOURCE
Item
Source repository where subjects originate
string
C3847505 (UMLS CUI [1,1])
C0449416 (UMLS CUI [1,2])
C0681850 (UMLS CUI [1,3])
SOURCE_SUBJECT_ID
Item
Subject ID used in the Source Repository
string
C2348585 (UMLS CUI [1,1])
C3847505 (UMLS CUI [1,2])
C0449416 (UMLS CUI [1,3])
Item
Case control status of the subject for breast cancer
text
C3274646 (UMLS CUI [1,1])
Code List
Case control status of the subject for breast cancer
CL Item
Disease (1)

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