Barrett adenocarcinoma

Summary

Barrett adenocarcinoma (MONDO:0004405) is a disease with 1 cohort gene and 8 clinical trials.

At a glance

• Cohort genes: 1
• Clinical trials: 8

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Barrett adenocarcinoma
Mondo ID	MONDO:0004405
EFO	EFO:1001939
DOID	DOID:7941
ICD-11	1934528268
NCIT	C7027
SNOMED CT	721617001
UMLS	C1332460
MedGen	272350
GARD	0023984
Is cancer (heuristic)	no

Also known as: adenocarcinoma arising in Barrett’s mucosa · Barrett adenocarcinoma · Barrett’s adenocarcinoma

Data availability: 7 cell lines.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › cancer › carcinoma › adenocarcinoma › esophageal adenocarcinoma › Barrett adenocarcinoma

Related subtypes (2): mucoepidermoid esophageal carcinoma, esophageal adenoid cystic carcinoma

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 2 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
EGFR	Orphanet:251576	Gliosarcoma
EGFR	Orphanet:251579	Giant cell glioblastoma

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
civic_only	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
EGFR	HGNC:3236	ENSG00000146648	P00533	Epidermal growth factor receptor	civic_evidence

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
EGFR	Epidermal growth factor receptor	Receptor tyrosine kinase binding ligands of the EGF family and activating several signaling cascades to convert extracellular cues into appropriate cellular responses.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Kinase	1	27.7×	0.036

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
EGFR	Kinase	yes	2.7.10.1	Rcpt_L-dom, Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
gingiva	1
gingival epithelium	1
nipple	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
EGFR	285	ubiquitous	marker	nipple, gingiva, gingival epithelium

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
EGFR	18,421

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
EGFR	P00533	388

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 37. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
PLCG1 events in ERBB2 signaling	1	2855.0×	0.004	EGFR
PTK6 promotes HIF1A stabilization	1	1631.4×	0.004	EGFR
Inhibition of Signaling by Overexpressed EGFR	1	1268.9×	0.004	EGFR
EGFR interacts with phospholipase C-gamma	1	1142.0×	0.004	EGFR
EGFR Transactivation by Gastrin	1	1142.0×	0.004	EGFR
ERBB2 Activates PTK6 Signaling	1	815.7×	0.004	EGFR
GRB2 events in EGFR signaling	1	761.3×	0.004	EGFR
TFAP2 (AP-2) family regulates transcription of growth factors and their receptors	1	761.3×	0.004	EGFR
SHC1 events in EGFR signaling	1	713.8×	0.004	EGFR
Constitutive Signaling by EGFRvIII	1	713.8×	0.004	EGFR
ERBB2 Regulates Cell Motility	1	713.8×	0.004	EGFR
PI3K events in ERBB2 signaling	1	671.8×	0.004	EGFR
Signaling by ERBB2 ECD mutants	1	671.8×	0.004	EGFR
GAB1 signalosome	1	634.4×	0.004	EGFR
GRB2 events in ERBB2 signaling	1	634.4×	0.004	EGFR
Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants	1	571.0×	0.004	EGFR
Developmental Lineage of Mammary Gland Myoepithelial Cells	1	543.8×	0.004	EGFR
Signal transduction by L1	1	519.1×	0.004	EGFR
Respiratory syncytial virus (RSV) attachment and entry	1	496.5×	0.004	EGFR
SHC1 events in ERBB2 signaling	1	475.8×	0.004	EGFR
NOTCH3 Activation and Transmission of Signal to the Nucleus	1	475.8×	0.004	EGFR
Signaling by ERBB2 TMD/JMD mutants	1	475.8×	0.004	EGFR
Estrogen-dependent nuclear events downstream of ESR-membrane signaling	1	439.2×	0.004	EGFR
Signaling by ERBB2 KD Mutants	1	423.0×	0.004	EGFR
Downregulation of ERBB2 signaling	1	380.7×	0.004	EGFR
Signaling by ERBB2	1	346.1×	0.004	EGFR
EGFR downregulation	1	346.1×	0.004	EGFR
Signaling by EGFR	1	326.3×	0.004	EGFR
Signaling by ERBB4	1	271.9×	0.005	EGFR
Extra-nuclear estrogen signaling	1	170.4×	0.007	EGFR

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
negative regulation of cardiocyte differentiation	1	16852.0×	0.003	EGFR
positive regulation of protein kinase C signaling	1	5617.3×	0.003	EGFR
morphogenesis of an epithelial fold	1	4213.0×	0.003	EGFR
response to UV-A	1	4213.0×	0.003	EGFR
regulation of peptidyl-tyrosine phosphorylation	1	3370.4×	0.003	EGFR
salivary gland morphogenesis	1	2407.4×	0.003	EGFR
protein insertion into membrane	1	2106.5×	0.003	EGFR
ubiquitin-dependent endocytosis	1	1872.4×	0.003	EGFR
ERBB2-EGFR signaling pathway	1	1685.2×	0.003	EGFR
cerebral cortex cell migration	1	1532.0×	0.003	EGFR
eyelid development in camera-type eye	1	1053.2×	0.004	EGFR
digestive tract morphogenesis	1	991.3×	0.004	EGFR
positive regulation of phosphorylation	1	842.6×	0.004	EGFR
xenobiotic transport	1	842.6×	0.004	EGFR
embryonic placenta development	1	766.0×	0.004	EGFR
positive regulation of peptidyl-serine phosphorylation	1	766.0×	0.004	EGFR
negative regulation of epidermal growth factor receptor signaling pathway	1	766.0×	0.004	EGFR
positive regulation of DNA replication	1	581.1×	0.005	EGFR
positive regulation of epidermal growth factor receptor signaling pathway	1	495.6×	0.006	EGFR
cellular response to estradiol stimulus	1	411.0×	0.006	EGFR
positive regulation of G1/S transition of mitotic cell cycle	1	401.2×	0.006	EGFR
hair follicle development	1	383.0×	0.006	EGFR
negative regulation of protein catabolic process	1	366.4×	0.006	EGFR
positive regulation of DNA repair	1	358.6×	0.006	EGFR
cellular response to epidermal growth factor stimulus	1	318.0×	0.006	EGFR
epithelial cell proliferation	1	312.1×	0.006	EGFR
cellular response to amino acid stimulus	1	306.4×	0.006	EGFR
positive regulation of fibroblast proliferation	1	295.6×	0.006	EGFR
positive regulation of miRNA transcription	1	290.6×	0.006	EGFR
positive regulation of protein phosphorylation	1	276.3×	0.006	EGFR

Therapeutics

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 0

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
EGFR	LEVODOPA

Top cohort targets by molecule count

Symbol	Molecules	Max phase
EGFR	175	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
LEVODOPA	4	EGFR
CLOTRIMAZOLE	4	EGFR
ERLOTINIB HYDROCHLORIDE	4	EGFR
CISPLATIN	4	EGFR
PONATINIB	4	EGFR
AFATINIB	4	EGFR
CHROMIC CHLORIDE	4	EGFR
BACITRACIN	4	EGFR
ZINC CHLORIDE	4	EGFR
LAPATINIB DITOSYLATE	4	EGFR
VEMURAFENIB	4	EGFR
FEDRATINIB	4	EGFR
AXITINIB	4	EGFR
SORAFENIB	4	EGFR
DASATINIB ANHYDROUS	4	EGFR
NICLOSAMIDE	4	EGFR
SELUMETINIB	4	EGFR
TERFENADINE	4	EGFR
ALECTINIB	4	EGFR
NERATINIB	4	EGFR
IBRUTINIB	4	EGFR
AFATINIB DIMALEATE	4	EGFR
CABOZANTINIB	4	EGFR
DACOMITINIB	4	EGFR
DACOMITINIB ANHYDROUS	4	EGFR
CERITINIB	4	EGFR
VANDETANIB	4	EGFR
TRIBROMSALAN	4	EGFR
BOSUTINIB	4	EGFR
BITHIONOL	4	EGFR

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
EGFR	6,531	Binding:6211, Functional:173, ADMET:138, Toxicity:9

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
EGFR	2.7.10.1	receptor protein-tyrosine kinase

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
EGFR	6,531

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

30 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Compound	Max phase	Cohort target (bioactivity)
LEVODOPA	4	EGFR
CLOTRIMAZOLE	4	EGFR
ERLOTINIB HYDROCHLORIDE	4	EGFR
CISPLATIN	4	EGFR
PONATINIB	4	EGFR
AFATINIB	4	EGFR
CHROMIC CHLORIDE	4	EGFR
BACITRACIN	4	EGFR
ZINC CHLORIDE	4	EGFR
LAPATINIB DITOSYLATE	4	EGFR
VEMURAFENIB	4	EGFR
FEDRATINIB	4	EGFR
AXITINIB	4	EGFR
SORAFENIB	4	EGFR
DASATINIB ANHYDROUS	4	EGFR
NICLOSAMIDE	4	EGFR
SELUMETINIB	4	EGFR
TERFENADINE	4	EGFR
ALECTINIB	4	EGFR
NERATINIB	4	EGFR
IBRUTINIB	4	EGFR
AFATINIB DIMALEATE	4	EGFR
CABOZANTINIB	4	EGFR
DACOMITINIB	4	EGFR
DACOMITINIB ANHYDROUS	4	EGFR
CERITINIB	4	EGFR
VANDETANIB	4	EGFR
TRIBROMSALAN	4	EGFR
BOSUTINIB	4	EGFR
BITHIONOL	4	EGFR

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	EGFR
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	0

Undrugged target profiles

0 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Clinical trials & evidence

Clinical trials

Clinical trials: 8.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	8

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05276791	Not specified	NOT_YET_RECRUITING	EMR Versus ESD for Barrett’s Neoplasia
NCT01618643	Not specified	COMPLETED	Aceto-whitening in the Assessment of Gastrointestinal Neoplasia
NCT01871636	Not specified	COMPLETED	ESD Versus EMR for Treatment of Early Barrett’s Adenocarcinoma
NCT03240679	Not specified	TERMINATED	Endoscopic Mucosal Resection and Cellular Matrix
NCT03427346	Not specified	UNKNOWN	Neoplastic Barrett Esophagus: Endoscopic Piecemeal vs. En Bloc Resection
NCT05628441	Not specified	COMPLETED	Real-time Computer Aided Detection of Barrett’s Neoplasia
NCT05690958	Not specified	UNKNOWN	Public’s Intended Uptake and Views on Organization of Esophageal Cancer Screening
NCT06381583	Not specified	COMPLETED	A Liquid Biopsy for High-risk Pre-cancer Screening of Esophageal Adenocarcinoma