EPCAM

Summary

EPCAM (epithelial cell adhesion molecule, HGNC:11529) is a protein-coding gene on chromosome 2p21, encoding Epithelial cell adhesion molecule (P16422). May act as a physical homophilic interaction molecule between intestinal epithelial cells (IECs) and intraepithelial lymphocytes (IELs) at the mucosal epithelium for providing immunological barrier as a first line of defense against mucosal infection.

This gene encodes a carcinoma-associated antigen and is a member of a family that includes at least two type I membrane proteins. This antigen is expressed on most normal epithelial cells and gastrointestinal carcinomas and functions as a homotypic calcium-independent cell adhesion molecule. The antigen is being used as a target for immunotherapy treatment of human carcinomas. Mutations in this gene result in congenital tufting enteropathy.

Source: NCBI Gene 4072 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Lynch syndrome (Definitive, ClinGen) — +3 more curated relationships
• GWAS associations: 2
• Clinical variants (ClinVar): 1,103 total — 122 pathogenic, 17 likely-pathogenic
• Phenotypes (HPO): 97
• Druggable target: yes
• MANE Select transcript: NM_002354

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11529
Approved symbol	EPCAM
Name	epithelial cell adhesion molecule
Location	2p21
Locus type	gene with protein product
Status	Approved
Aliases	Ly74, TROP1, GA733-2, EGP34, EGP40, EGP-2, KSA, CD326, Ep-CAM, HEA125, KS1/4, MK-1, MH99, MOC31, MOC-31, 323/A3, 17-1A, TACST-1, CO-17A, ESA, BerEp4, Ber-Ep4
Ensembl gene	ENSG00000119888
Ensembl biotype	protein_coding
OMIM	185535
Entrez	4072

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 10 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000263735, ENST00000405271, ENST00000419334, ENST00000456133, ENST00000474691, ENST00000490733, ENST00000895681, ENST00000895682, ENST00000895683, ENST00000895684, ENST00000895685, ENST00000934495, ENST00000934496

RefSeq mRNA: 1 — MANE Select: NM_002354 NM_002354

CCDS: CCDS1833

Canonical transcript exons

ENST00000263735 — 9 exons

Exon	Start	End
ENSE00000809826	47373808	47374048
ENSE00000962738	47373463	47373570
ENSE00001069309	47369311	47369581
ENSE00001683862	47386572	47387020
ENSE00003480953	47378953	47379054
ENSE00003513916	47385166	47385210
ENSE00003552250	47375234	47375299
ENSE00003560359	47379769	47379969
ENSE00003643653	47377014	47377077

Expression profiles

Bgee: expression breadth ubiquitous, 253 present calls, max score 99.94.

FANTOM5 (CAGE): breadth broad, TPM avg 62.4018 / max 2406.5364, expressed in 822 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter ID	TPM avg	Samples expressed
20151	56.5318	715
20148	2.2678	558
20152	1.0614	437
20153	0.9200	439
20155	0.5506	257
20150	0.2934	188
20156	0.2070	105
20154	0.2049	101
20149	0.1865	124
20147	0.0889	36

Top tissues by expression

288 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
jejunal mucosa	UBERON:0000399	99.94	gold quality
colonic mucosa	UBERON:0000317	99.84	gold quality
mucosa of sigmoid colon	UBERON:0004993	99.83	gold quality
rectum	UBERON:0001052	99.76	gold quality
duodenum	UBERON:0002114	99.73	gold quality
mucosa of transverse colon	UBERON:0004991	99.67	gold quality
renal medulla	UBERON:0000362	99.53	gold quality
corpus epididymis	UBERON:0004359	99.52	gold quality
islet of Langerhans	UBERON:0000006	99.46	gold quality
bronchial epithelial cell	CL:0002328	99.43	gold quality
epithelial cell of pancreas	CL:0000083	99.26	gold quality
caput epididymis	UBERON:0004358	99.26	gold quality
ileal mucosa	UBERON:0000331	99.17	gold quality
epithelium of bronchus	UBERON:0002031	99.07	gold quality
nephron tubule	UBERON:0001231	99.06	gold quality
bronchus	UBERON:0002185	99.00	gold quality
pancreatic ductal cell	CL:0002079	98.96	gold quality
left lobe of thyroid gland	UBERON:0001120	98.87	gold quality
thyroid gland	UBERON:0002046	98.84	gold quality
right lobe of thyroid gland	UBERON:0001119	98.68	gold quality
body of pancreas	UBERON:0001150	98.60	gold quality
pancreas	UBERON:0001264	98.52	gold quality
metanephros cortex	UBERON:0010533	98.34	gold quality
pylorus	UBERON:0001166	98.33	gold quality
epithelium of nasopharynx	UBERON:0001951	98.33	gold quality
gall bladder	UBERON:0002110	98.32	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	98.26	gold quality
secondary oocyte	CL:0000655	98.23	gold quality
seminal vesicle	UBERON:0000998	98.22	gold quality
right uterine tube	UBERON:0001302	98.15	gold quality

Single-cell (SCXA)

Detected in 32 experiment(s), a significant marker in 28.

Experiment	Marker?	Max mean expression
E-MTAB-9906	yes	2378.52
E-CURD-46	yes	1473.62
E-GEOD-124472	yes	1434.74
E-CURD-88	yes	1426.53
E-CURD-53	yes	1123.40
E-MTAB-9388	yes	1040.45
E-MTAB-10485	yes	1021.18
E-MTAB-9154	yes	935.90
E-GEOD-114530	yes	907.53
E-CURD-114	yes	818.92
E-MTAB-10662	yes	814.20
E-HCAD-10	yes	802.45
E-MTAB-10287	yes	739.11
E-MTAB-8205	yes	437.33
E-MTAB-10042	yes	381.22

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

4 targets.

Target	Regulation
CCNA2	Activation
CCNE1	Activation
FABP5	Activation
MYC	Activation

Upstream regulators (CollecTRI, top): AR, CTNNB1, DNMT1, DNMT3A, FOXA2, HDAC1, HOXA10, KLF4, NANOG, NFKB1, NFKB, NFKBID, RELA, SALL4, TCF7L2, TP53, ZEB1, ZKSCAN7

miRNA regulators (miRDB)

52 targeting EPCAM, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-5688	99.96	73.23	4504
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-6079	99.84	68.54	1170
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-498-5P	99.76	69.64	1807
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-12129	99.72	67.45	1311
HSA-MIR-4755-5P	99.71	70.34	2716
HSA-MIR-5006-3P	99.71	70.26	2728
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-466	99.67	70.85	2863
HSA-MIR-567	99.63	68.57	1219
HSA-MIR-1290	99.59	69.90	2079
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-3942-3P	99.57	69.03	2854
HSA-MIR-297	99.40	69.58	1418
HSA-MIR-513A-3P	99.39	70.63	3620
HSA-MIR-513C-3P	99.39	70.63	3620
HSA-MIR-4318	99.38	66.94	1505
HSA-MIR-6828-5P	99.31	69.21	1433

Literature-anchored findings (GeneRIF, showing 40)

• Correlation of COX-2 and Ep-CAM overexpression in human invasive breast cancer and its impact on survival. (PMID:12592372)
• amplification is induced by mutations in TP53 (PMID:12642870)
• A 1100 bp fragment of the EpCAM promoter containing the 570 bp fragment and additional 550 bp upstream has been cloned (PMID:12926061)
• Human EGP-2 antigen on epithelial cells of transgenic trachea transplants induces specific humoral and cellular immune responses, leading to mild form of obliterative airway disease. (egp-2) (PMID:14557747)
• Epithelial cell adhesion molecule has a role in progression of renal cell carcinoma but is absent in clear cell carcinoma (PMID:15102668)
• Ep-CAM antigen represents an attractive target for specific therapies with monoclonal antibodies or specific vaccines in patients with Ep-CAM-overexpressing gallbladder carcinoma. (PMID:15131054)
• EpCAM up-regulates c-myc and induces cell proliferation (PMID:15195135)
• up-regulation of DDR1, CLDN3, and epithelial cell adhesion molecule are early events in the development of epithelial ovarian cancer (PMID:15240533)
• Vaccination with Ep-CAM protein may warrant further investigation as a novel therapeutic approach to colorectal cancer. (PMID:15328177)
• EpCAM is vastly expressed in retinoblastoma; EpCAM reactivity was significantly higher in the invasive than the noninvasive tumors and in poorly differentiated than in well-differentiated tumors (PMID:15557427)
• Ep-CAM was distributed differently in normal and various malignant colon tissues. MAbs against Ep-CAM may have diagnostic and therapeutic value to various colon carcinomas. (PMID:15637741)
• EpCAM shown to be signal transducing membrane protein involved in carcinogenesis via its ability to induce genes involved in cellular metabolism and proliferation (PMID:15922867)
• EpCAM expression in blood and primary and metastatic tumors is transient and dependent upon the local micro-environment (PMID:15942643)
• The carcinoma-specific epithelial glycoprotein-2 promoter controls efficient and selective gene expression in an adenoviral context. (PMID:16096650)
• MK-1 expression was found in 61% of samples. (PMID:16616808)
• Tumor-specific EpCAM expression and release into the circulation may serve as effective immunotherapy in esophageal cancer patients. (PMID:17143526)
• downregulation of EGP-2 promoter activity using zinc finger protein transcription factors may result in a novel anti-cancer treatment. (PMID:17186549)
• claudin-7-associated EpCAM is recruited into (tetraspanin-enriched membrane microdomains) and forms a complex with CO-029 and CD44v6 that facilitates metastasis formation (PMID:17579117)
• analysis of EpCAM expression in normal, non-pathological tissues (PMID:17981779)
• EpCAM is a Wnt-beta-catenin signaling target gene (PMID:18006828)
• The spatiotemporal expression pattern of EpCAM changes during nephrogenesis (PMID:18025791)
• EpCAM expression in gallbladder tumors may serve as a prognostic factor for poor survival. (PMID:18285265)
• EpCAM and alpha-fetoprotein are expressed in hepatocellular carcinoma (PMID:18316609)
• Active DNA methylation leads to sustained silencing of endogenous EpCAM expression. (PMID:18398839)
• Perspectives for EpCAM-targeted apoptosis induction in cancer by EpCAM-selective bispecific antibodies. [REVIEW} (PMID:18508568)
• EpCAM is strongly over-expressed in a variety of carcinomas; mutants of EpCAM that substitute asparagine198 for alanine show a decreased expression and half-life at the plasma membrane. (PMID:18508581)
• Mutations in the gene for EpCAM are responsible for congenital tufting enteropathy. (PMID:18572020)
• Reduced expression of EpCAM and villin is associated withn Barrett’s adenocarcinoma and expression of EpCam and villin differs only between squamous epithelium and Barrett esophagus (PMID:18688077)
• unmethylation of the EpCAM promoter region was associated with EpCAM overexpression; however, it was not responsible for EpCAM overexpression by itself. (PMID:18949402)
• These data suggest that EpCAM is involved in signal transduction triggering several intracellular signalling pathways using tumor cell lines in colorectal and lung cancer. (PMID:19002182)
• the transcripts upregulated according to disease progression were associated with signaling pathway/transcription, including tumor-associated calcium signal transducer 1 and chemokine ligand 19, and with cell communication, such as collagen. (PMID:19012040)
• Ep-CAM was present in urothelial cell carcinoma in situ (CIS) of the bladder with a heterogeneous staining pattern. (PMID:19019843)
• EpCAM (TACSTD1) gene mutations occur in Lynch Syndrome and result in methylation of the 3’ located msh2 gene, which is involved in mismatch repair. (PMID:19098912)
• Patients from Dutch and Chinese families with MSH2-deficient tumors carrying heterozygous germline deletions of the last exons of TACSTD1, a gene directly upstream of MSH2 encoding Ep-CAM, are described. (PMID:19098912)
• EpCAM is frequently over-expressed on cancer initiating cells in various tumour entities (PMID:19132011)
• EpCAM signals to the cell nucleus following regulated intramembrane proteolysis and nuclear translocation of its intracellular domain (EpICD). EpICD on its own (26aa) is highly tumourigenic in SCID mice. (PMID:19136966)
• Here we show that regulated intramembrane proteolysis activates EpCAM as a mitogenic signal transducer in vitro and in vivo. (PMID:19136966)
• Data are the first demonstration that wild-type p53 protein binds to a response element within the EpCAM gene and negatively regulates EpCAM expression, and transcriptional repression of EpCAM contributes to p53 control of breast cancer invasion. (PMID:19141643)
• hepatocellular carcinoma growth and invasiveness is dictated by a subset of EpCAM(+) cells (PMID:19150350)
• the overexpression of epithelial cell adhesion molecule and reduced expression of E-cadherin in combination is more significant than a single marker for predicting poor survival. (PMID:19157508)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	epcam	ENSDARG00000040534
mus_musculus	Epcam	ENSMUSG00000045394
rattus_norvegicus	Epcam	ENSRNOG00000015667

Paralogs (1): TACSTD2 (ENSG00000184292)

Protein

Protein identifiers

Epithelial cell adhesion molecule — P16422 (reviewed: P16422)

Alternative names: Adenocarcinoma-associated antigen, Cell surface glycoprotein Trop-1, Epithelial cell surface antigen, Epithelial glycoprotein, Epithelial glycoprotein 314, KS 1/4 antigen, KSA, Major gastrointestinal tumor-associated protein GA733-2, Tumor-associated calcium signal transducer 1

All UniProt accessions (3): P16422, B5MCA4, C9JKY3

UniProt curated annotations — full annotation on UniProt →

Function. May act as a physical homophilic interaction molecule between intestinal epithelial cells (IECs) and intraepithelial lymphocytes (IELs) at the mucosal epithelium for providing immunological barrier as a first line of defense against mucosal infection. Plays a role in embryonic stem cells proliferation and differentiation. Up-regulates the expression of FABP5, MYC and cyclins A and E.

Subunit / interactions. Monomer. Interacts with phosphorylated CLDN7.

Subcellular location. Lateral cell membrane. Cell junction. Tight junction.

Tissue specificity. Highly and selectively expressed by undifferentiated rather than differentiated embryonic stem cells (ESC). Levels rapidly diminish as soon as ESC’s differentiate (at protein levels). Expressed in almost all epithelial cell membranes but not on mesodermal or neural cell membranes. Found on the surface of adenocarcinoma.

Post-translational modifications. Hyperglycosylated in carcinoma tissue as compared with autologous normal epithelia. Glycosylation at Asn-198 is crucial for protein stability.

Disease relevance. Diarrhea 5, with tufting enteropathy, congenital (DIAR5) [MIM:613217] An intractable diarrhea of infancy characterized by villous atrophy and absence of inflammation, with intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum. The disease is caused by variants affecting the gene represented in this entry. Lynch syndrome 8 (LYNCH8) [MIM:613244] A form of Lynch syndrome, an autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. Lynch syndrome is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, it is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical Lynch syndrome is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term ‘suspected Lynch syndrome’ or ‘incomplete Lynch syndrome’ can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected. The disease is caused by variants affecting the gene represented in this entry. LYNCH8 results from heterozygous deletion of 3-prime exons of EPCAM and intergenic regions directly upstream of MSH2, resulting in transcriptional read-through and epigenetic silencing of MSH2 in tissues expressing EPCAM.

Similarity. Belongs to the EPCAM family.

RefSeq proteins (1): NP_002345* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000716	Thyroglobulin_1	Domain
IPR036857	Thyroglobulin_1_sf	Homologous_superfamily
IPR041630	EpCAM_N	Domain
IPR043406	EPCAM/Trop-2	Family
IPR049420	EPCAM-Trop-2_C	Domain

Pfam: PF00086, PF18635, PF21283

Enzyme classification (BRENDA):

• EC 2.4.1.37 — fucosylgalactoside 3-alpha-galactosyltransferase (BRENDA: 12 organisms, 84 substrates, 31 inhibitors, 90 Km, 49 kcat entries)
• EC 2.4.1.40 — glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase (BRENDA: 12 organisms, 33 substrates, 15 inhibitors, 33 Km, 14 kcat entries)

Substrate kinetics (BRENDA)

48 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
UDP-GALACTOSE	0.01–4.5	17
UDP-ALPHA-D-GALACTOSE	0.023–0.78	11
ALPHA-FUC-(1->2)-BETA-D-GAL-(CH2)7CH3	0.088–2.64	8
BETA-D-GALACTOSYL-(1->4)-BETA-D-GLUCOSYL-(1<->1)	0.032–0.35	6
L-FUCOSYL-ALPHA-1,2-BETA-D-GALACTOSYL-O(CH2)7CH3	0.022–0.281	6
ALPHA-FUC-(1->2)-BETA-D-GAL-(CH2)7CH3	0.0099–0.4	6
UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE	0.0087–0.086	6
UDP-GALNAC	0.0099–3.74	5
L-FUCOSYL-ALPHA-1,2-BETA-GALACTOSYL-O(CH2)7CH3	0.027–0.116	4
UDP-GLUCOSE	0.12–0.238	4
L-FUCOSYL-ALPHA-1,2-BETA-GALACTOSYL-O(CH2)7CH3	0.0087–0.167	4
UDP-GALNAC	0.023–0.78	3
UDP-N-ACETYLGALACTOSAMINE	0.285–0.34	3
2’-FUCOSYLLACTOSE	0.27–0.47	3
2’-FUCOSYLLACTOSE	0.08–0.5	2

UniProt features (47 total): strand 12, sequence variant 7, disulfide bond 6, helix 5, mutagenesis site 3, turn 3, glycosylation site 3, topological domain 2, sequence conflict 2, signal peptide 1, chain 1, transmembrane region 1, domain 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
4MZV	X-RAY DIFFRACTION	1.86
6I07	X-RAY DIFFRACTION	2.35

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P16422-F1	87.71	0.66

Antibody-complex structures (SAbDab): 1 — 6I07

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (6): 29–59, 38–48, 66–99, 110–116, 118–135, 27–46

Glycosylation sites (3): 74, 111, 198

Mutagenesis-validated functional residues (3):

Position	Phenotype
74	changed glycosylation pattern. complete loss of glycosylation and substantial decrease in protein expression; when assoc
111	changed glycosylation pattern. complete loss of glycosylation and substantial decrease in protein expression; when assoc
198	decreased glycosylation, reduced protein stability and significant decrease in protein expression. complete loss of glyc

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-202733	Cell surface interactions at the vascular wall
R-HSA-9638630	Attachment of bacteria to epithelial cells
R-HSA-9927418	Developmental Lineage of Mammary Gland Luminal Epithelial Cells
R-HSA-9927426	Developmental Lineage of Mammary Gland Alveolar Cells
R-HSA-9927432	Developmental Lineage of Mammary Gland Myoepithelial Cells
R-HSA-9938206	Developmental Lineage of Mammary Stem Cells

MSigDB gene sets: 480 (showing top): MODULE_52, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_REGULATION_OF_CELL_CELL_ADHESION_MEDIATED_BY_CADHERIN, AREB6_03, GOCC_CELL_SURFACE, GOBP_NEGATIVE_REGULATION_OF_CELL_CELL_ADHESION, GOBP_KIDNEY_EPITHELIUM_DEVELOPMENT, HUMMERICH_SKIN_CANCER_PROGRESSION_UP, GOBP_STEM_CELL_PROLIFERATION, GOBP_CELL_CELL_ADHESION, MODULE_118, BROWNE_HCMV_INFECTION_24HR_UP, MCBRYAN_PUBERTAL_BREAST_3_4WK_UP, CAFFAREL_RESPONSE_TO_THC_8HR_3_UP, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_6

GO Biological Process (8): ureteric bud development (GO:0001657), positive regulation of cell population proliferation (GO:0008284), signal transduction involved in regulation of gene expression (GO:0023019), positive regulation of transcription by RNA polymerase II (GO:0045944), stem cell differentiation (GO:0048863), negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048), positive regulation of stem cell proliferation (GO:2000648), cell-cell adhesion (GO:0098609)

GO Molecular Function (3): protein-containing complex binding (GO:0044877), cadherin binding involved in cell-cell adhesion (GO:0098641), protein binding (GO:0005515)

GO Cellular Component (9): plasma membrane (GO:0005886), bicellular tight junction (GO:0005923), cell surface (GO:0009986), basolateral plasma membrane (GO:0016323), apical plasma membrane (GO:0016324), lateral plasma membrane (GO:0016328), extracellular exosome (GO:0070062), membrane (GO:0016020), anchoring junction (GO:0070161)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Developmental Lineages of the Mammary Gland	4
Hemostasis	1
Biofilm formation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
binding	2
plasma membrane region	2
mesonephric tubule development	1
cell population proliferation	1
regulation of cell population proliferation	1
positive regulation of cellular process	1
signal transduction	1
regulation of gene expression	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
cell differentiation	1
negative regulation of cell-cell adhesion	1
cell-cell adhesion mediated by cadherin	1
regulation of cell-cell adhesion mediated by cadherin	1
positive regulation of cell population proliferation	1
stem cell proliferation	1
regulation of stem cell proliferation	1
cell adhesion	1
cadherin binding	1
cell-cell adhesion	1
cell-cell adhesion mediator activity	1
membrane	1
cell periphery	1
apical junction complex	1
tight junction	1
basal plasma membrane	1
apical part of cell	1
plasma membrane	1
extracellular vesicle	1
cell junction	1

Protein interactions and networks

STRING

3270 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EPCAM	CLDN7	O95471	984
EPCAM	CD44	P16070	971
EPCAM	CD9	P21926	941
EPCAM	ERBB2	P04626	921
EPCAM	EGFR	P00533	920
EPCAM	MUC1	P13931	913
EPCAM	MSH2	P43246	912
EPCAM	CD24	P25063	883
EPCAM	MSH6	P52701	873
EPCAM	PMS2	P54278	864
EPCAM	PROM1	O43490	840
EPCAM	PTPRC	P08575	840
EPCAM	CDH1	P12830	838
EPCAM	MLH1	P40692	837
EPCAM	GPC1	P35052	822

IntAct

44 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
SLC39A5	FAM171A2	psi-mi:“MI:0914”(association)	0.640
CLDN7	TACSTD2	psi-mi:“MI:0914”(association)	0.570
CALR	EPCAM	psi-mi:“MI:0915”(physical association)	0.560
EPCAM	CDH1	psi-mi:“MI:0915”(physical association)	0.560
DLST	EPCAM	psi-mi:“MI:0915”(physical association)	0.560
CDK5R1	EPCAM	psi-mi:“MI:0915”(physical association)	0.560
EPCAM	NEK7	psi-mi:“MI:0915”(physical association)	0.560
EPCAM	bipA	psi-mi:“MI:0915”(physical association)	0.370
CFTR		psi-mi:“MI:0914”(association)	0.350
PLEKHA7	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
DUSP4	MYO1C	psi-mi:“MI:0914”(association)	0.350
RAB5A	EIF3CL	psi-mi:“MI:0914”(association)	0.350
	SHTN1	psi-mi:“MI:0914”(association)	0.350
FGFR1	NDUFA4	psi-mi:“MI:0914”(association)	0.350
FGFR4	NDUFA4	psi-mi:“MI:0914”(association)	0.350
NTRK3	ILVBL	psi-mi:“MI:0914”(association)	0.350

BioGRID (45): EPCAM (Affinity Capture-Western), EPCAM (Affinity Capture-MS), EPCAM (Two-hybrid), EPCAM (Affinity Capture-MS), EPCAM (Two-hybrid), EPCAM (Affinity Capture-MS), EPCAM (Affinity Capture-MS), EPCAM (Affinity Capture-MS), EPCAM (Affinity Capture-MS), EPCAM (Affinity Capture-MS), EPCAM (Co-purification), EPCAM (Affinity Capture-MS), EPCAM (Affinity Capture-MS), EPCAM (Affinity Capture-MS), EPCAM (Proximity Label-MS)

ESM2 similar proteins: A0A182IRF8, A0A1D0C0W1, A0A1S4GYH9, A0A1S4GYJ6, A0A1S4K3K8, A0NAZ8, A0NBD9, A5X2H7, A9LKE4, A9LKE6, A9LKF0, A9LKF6, B0X6Z1, B6DDQ8, L0MZ37, M1JMQ7, P0CJ08, P0DQE4, P16422, P18153, P34174, P35775, P35776, P54194, Q06K46, Q06KA2, Q06KA5, Q0IF93, Q1WER1, Q5ENZ6, Q5ENZ7, Q5EP01, Q5EP17, Q5MIW7, Q5TXN1, Q6TS00, Q7PF80, Q7PJ76, Q7PN86, Q7PNF2

Diamond homologs: O55159, P09758, P16422, Q1WER1, Q3T0L5, Q5F381, Q6P9Z6, Q75QW1, Q8BGV3, Q99JW5

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
NfKb-p65/p50	“down-regulates quantity by repression”	EPCAM	“transcriptional regulation”
CBP/p300	“up-regulates quantity by expression”	EPCAM	“transcriptional regulation”
ZEB1	“down-regulates quantity by repression”	EPCAM	“transcriptional regulation”

Disease & clinical

Cancer significance

Clinical variants and AI predictions

ClinVar

1103 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	122
Likely pathogenic	17
Uncertain significance	573
Likely benign	295
Benign	49

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1049167	NM_002354.3(EPCAM):c.556-3_657+288del	Pathogenic
1050058	NM_002354.3(EPCAM):c.859-2_903+43del	Pathogenic
1070268	NC_000002.11:g.(?47604143)(47613752_?)del	Pathogenic
1071367	NC_000002.11:g.(?47596639)(47705664_?)del	Pathogenic
1073180	NC_000002.11:g.(?47596645)(47693957_?)del	Pathogenic
1075374	NC_000002.11:g.(?47596635)(47639709_?)del	Pathogenic
1076143	NC_000002.11:g.(?47600592)(47613752_?)del	Pathogenic
1244227	NM_002354.3(EPCAM):c.903+1G>A	Pathogenic
12771	NM_002354.3(EPCAM):c.491+1G>A	Pathogenic
12773	NM_002354.3(EPCAM):c.197G>A (p.Cys66Tyr)	Pathogenic
12774	NM_002354.3(EPCAM):c.499dup (p.Gln167fs)	Pathogenic
12775	NC_000002.12:g.47383704_47388612del	Pathogenic
12776	NR_030286.1(MIR559):n.278_23134del	Pathogenic
1322824	NM_002354.3(EPCAM):c.160C>T (p.Gln54Ter)	Pathogenic
1359152	NC_000002.11:g.(?47596645)(47607118_?)del	Pathogenic
1411908	NC_000002.11:g.(?47596645)(47604226_?)del	Pathogenic
1442833	NC_000002.11:g.(?47602363)(47602448_?)del	Pathogenic
1455569	NC_000002.11:g.(?47596645)(47602448_?)del	Pathogenic
1458036	NC_000002.11:g.(?47600592)(47604226_?)del	Pathogenic
1459780	NC_000002.11:g.(?47596645)(47672806_?)del	Pathogenic
1459802	NC_000002.11:g.(?47612824)(47615711_?)del	Pathogenic
1460466	NC_000002.11:g.(?47613701)(47613752_?)del	Pathogenic
157604	NM_002354.3(EPCAM):c.492-2A>G	Pathogenic
1801570	NM_002354.3(EPCAM):c.315dup (p.Lys106Ter)	Pathogenic
1801600	NM_002354.3(EPCAM):c.11del (p.Pro4fs)	Pathogenic
1801614	NM_002354.3(EPCAM):c.37del (p.Ala14fs)	Pathogenic
1801615	NM_002354.3(EPCAM):c.87_88del (p.Cys29_Glu30delinsTer)	Pathogenic
1801616	NM_002354.3(EPCAM):c.167del (p.Thr56fs)	Pathogenic
1801668	NM_002354.3(EPCAM):c.3G>C (p.Met1Ile)	Pathogenic
1801674	NM_002354.3(EPCAM):c.373A>T (p.Arg125Ter)	Pathogenic

SpliceAI

1447 predictions. Top by Δscore:

Variant	Effect	Δscore
2:47373457:TTCTA:T	acceptor_loss	1.0000
2:47373458:TCTA:T	acceptor_loss	1.0000
2:47373461:A:AG	acceptor_gain	1.0000
2:47373461:A:C	acceptor_loss	1.0000
2:47373461:AGAAT:A	acceptor_gain	1.0000
2:47373462:G:A	acceptor_loss	1.0000
2:47373462:G:GT	acceptor_gain	1.0000
2:47373462:GA:G	acceptor_gain	1.0000
2:47373462:GAA:G	acceptor_gain	1.0000
2:47373462:GAAT:G	acceptor_gain	1.0000
2:47373462:GAATG:G	acceptor_gain	1.0000
2:47373566:AAAGC:A	donor_gain	1.0000
2:47373567:AAGC:A	donor_gain	1.0000
2:47373568:AGCG:A	donor_loss	1.0000
2:47373569:GC:G	donor_gain	1.0000
2:47373570:CGTG:C	donor_loss	1.0000
2:47373571:G:C	donor_loss	1.0000
2:47373571:G:GG	donor_gain	1.0000
2:47373572:T:A	donor_loss	1.0000
2:47373574:A:AT	donor_loss	1.0000
2:47373575:G:C	donor_loss	1.0000
2:47374046:CTA:C	donor_gain	1.0000
2:47374049:G:GG	donor_gain	1.0000
2:47375232:A:AG	acceptor_gain	1.0000
2:47375233:G:GG	acceptor_gain	1.0000
2:47375297:GAC:G	donor_gain	1.0000
2:47375300:G:GG	donor_gain	1.0000
2:47378949:CCAG:C	acceptor_loss	1.0000
2:47378950:CAG:C	acceptor_loss	1.0000
2:47378951:A:AG	acceptor_gain	1.0000

AlphaMissense

2073 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:47373918:T:A	C99S	0.998
2:47373919:G:C	C99S	0.998
2:47373975:T:A	C118S	0.998
2:47373976:G:C	C118S	0.998
2:47373983:C:A	N120K	0.998
2:47373983:C:G	N120K	0.998
2:47373819:T:A	C66S	0.997
2:47373819:T:C	C66R	0.997
2:47373820:G:C	C66S	0.997
2:47373936:T:C	F105L	0.997
2:47373938:T:A	F105L	0.997
2:47373938:T:G	F105L	0.997
2:47373972:T:A	W117R	0.997
2:47373972:T:C	W117R	0.997
2:47373975:T:C	C118R	0.997
2:47373977:T:G	C118W	0.997
2:47373990:G:T	G123W	0.997
2:47374028:C:G	C135W	0.997
2:47378981:T:C	L195P	0.997
2:47373821:T:G	C66W	0.996
2:47373937:T:G	F105C	0.996
2:47373974:G:C	W117C	0.996
2:47373974:G:T	W117C	0.996
2:47373991:G:A	G123E	0.996
2:47374026:T:A	C135S	0.996
2:47374026:T:C	C135R	0.996
2:47374027:G:A	C135Y	0.996
2:47374027:G:C	C135S	0.996
2:47375251:T:C	L148P	0.996
2:47379944:C:A	A278E	0.996

dbSNP variants (sampled 300 via entrez): RS1000041924 (2:47382245 A>G), RS1000140374 (2:47382690 A>C,G), RS1000151428 (2:47387432 G>A,C), RS1000226715 (2:47370516 C>G), RS1000227825 (2:47384733 G>A), RS1000451548 (2:47386248 A>G,T), RS1000530194 (2:47369489 C>T), RS1000598521 (2:47370304 C>T), RS1000739398 (2:47381642 C>T), RS1000803828 (2:47380526 A>G), RS1000898513 (2:47376947 A>C,G,T), RS1000921673 (2:47376715 A>G), RS1000967615 (2:47369363 C>A,G,T), RS1000971952 (2:47382441 C>T), RS1001092284 (2:47372652 G>A,T)

Disease associations

OMIM: gene MIM:185535 | disease phenotypes: MIM:167000, MIM:613244, MIM:613659, MIM:613217, MIM:120435, MIM:114480

GenCC curated gene-disease

Disease	Classification	Inheritance
congenital diarrhea 5 with tufting enteropathy	Definitive	Autosomal recessive
Lynch syndrome 8	Definitive	Autosomal dominant
Lynch syndrome	Definitive	Autosomal dominant

ClinGen Gene-Disease Validity (2)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
Lynch syndrome	Definitive	AD
hereditary breast carcinoma	Refuted	AD

Mondo (12): hereditary neoplastic syndrome (MONDO:0015356), ovarian cancer (MONDO:0008170), colon carcinoma (MONDO:0002032), Lynch syndrome 8 (MONDO:0013196), colonic neoplasm (MONDO:0005401), gastric cancer (MONDO:0001056), congenital diarrhea 5 with tufting enteropathy (MONDO:0013184), Lynch syndrome (MONDO:0005835), Lynch syndrome 1 (MONDO:0007356), hereditary breast carcinoma (MONDO:0016419), hereditary nonpolyposis colon cancer (MONDO:0018630), hereditary breast ovarian cancer syndrome (MONDO:0003582)

Orphanet (7): Inherited cancer-predisposing syndrome (Orphanet:140162), Rare ovarian cancer (Orphanet:213500), Lynch syndrome (Orphanet:144), Congenital tufting enteropathy (Orphanet:92050), Hereditary breast cancer (Orphanet:227535), Hereditary nonpolyposis colon cancer (Orphanet:443909), Hereditary breast and/or ovarian cancer syndrome (Orphanet:145)

HPO phenotypes

97 total (30 of 97 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000202	Orofacial cleft
HP:0000453	Choanal atresia
HP:0000505	Visual impairment
HP:0000518	Cataract
HP:0000588	Optic disc coloboma
HP:0000613	Photophobia
HP:0000708	Atypical behavior
HP:0000716	Depression
HP:0000737	Irritability
HP:0000738	Hallucinations
HP:0000739	Anxiety
HP:0000951	Abnormality of the skin
HP:0001123	Visual field defect
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001260	Dysarthria
HP:0001276	Hypertonia
HP:0001288	Gait disturbance
HP:0001369	Arthritis
HP:0001371	Flexion contracture
HP:0001402	Hepatocellular carcinoma
HP:0001508	Failure to thrive
HP:0001518	Small for gestational age
HP:0001522	Death in infancy
HP:0001824	Weight loss
HP:0001944	Dehydration
HP:0002013	Vomiting
HP:0002017	Nausea and vomiting

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST009568_1	epithelial cell adhesion molecule levels	7.000000e-16
GCST90026413_12	Severe insulin-deficient type 2 diabetes	2.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010574	epithelial cell adhesion molecule measurement

MeSH disease descriptors (8)

Descriptor	Name	Tree numbers
D003110	Colonic Neoplasms	C04.588.274.476.411.307.180; C06.301.371.411.307.180; C06.405.249.411.307.180; C06.405.469.158.356.180; C06.405.469.491.307.180
D061325	Hereditary Breast and Ovarian Cancer Syndrome	C04.588.180.483; C04.588.322.455.431; C04.700.517; C12.050.351.500.056.630.705.431; C12.050.351.937.418.685.431; C12.100.250.056.630.705.431; C12.900.418.685.431; C16.320.700.517; C17.800.090.500.483; C19.344.410.431; C19.391.630.705.431
D009386	Neoplastic Syndromes, Hereditary	C04.700; C16.320.700
D010051	Ovarian Neoplasms	C04.588.322.455; C12.050.351.500.056.630.705; C12.050.351.937.418.685; C12.100.250.056.630.705; C12.900.418.685; C19.344.410; C19.391.630.705
C562840	Breast Cancer, Familial (supp.)
C567685	Colorectal Cancer, Hereditary Nonpolyposis, Type 8 (supp.)
C567703	Diarrhea 5, With Tufting Enteropathy, Congenital (supp.)
C537261	Lynch syndrome I (site-specific colonic cancer) (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3580493 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
9.33	Kd	0.472	nM	CHEMBL5653589
9.33	ED50	0.472	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148324: Binding affinity to human EPCAM incubated for 45 mins by Kinobead based pull down assay	kd	0.0005	uM

CTD chemical–gene interactions

81 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases expression, increases methylation	6
methylmercuric chloride	decreases expression, increases expression, affects cotreatment	4
sodium arsenite	affects reaction, increases expression, increases reaction, decreases reaction, decreases expression	4
bisphenol A	decreases expression, increases expression	3
trichostatin A	affects cotreatment, increases expression	3
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment, decreases expression	3
Tretinoin	affects expression, decreases expression, increases expression	3
Paclitaxel	affects cotreatment, increases expression, decreases expression	3
mercuric bromide	increases expression, affects cotreatment	2
entinostat	increases expression, affects cotreatment	2
Decitabine	affects expression, affects methylation	2
Panobinostat	affects cotreatment, increases expression	2
Cisplatin	affects cotreatment, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Cadmium Chloride	decreases expression, increases abundance	2
p-Chloromercuribenzoic Acid	affects cotreatment, increases expression	2
aristolochic acid I	decreases expression	1
napabucasin	decreases expression	1
XMU-MP-1	decreases expression, decreases reaction	1
dicrotophos	decreases expression	1
lead acetate	decreases expression	1
methylparaben	decreases expression	1
perfluorooctanoic acid	decreases expression	1
potassium chromate(VI)	increases expression	1
ferrous chloride	increases expression	1
cupric chloride	decreases expression	1
nickel sulfate	decreases expression	1
artemisinin	decreases expression	1
3-hydroxyflavone	decreases expression	1
casticin	decreases expression, increases reaction, decreases reaction	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651366	Binding	Binding affinity to human EPCAM incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

8 cell lines: 4 cancer cell line, 2 spontaneously immortalized cell line, 1 finite cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1C4	Abcam A-431 EPCAM KO	Cancer cell line	Female
CVCL_B3ZD	WG4190	Finite cell line	Male
CVCL_D2TL	CHO/EpCAM	Spontaneously immortalized cell line	Female
CVCL_D8KV	Ubigene HCT 116 EPCAM KO	Cancer cell line	Male
CVCL_E0ZT	Ubigene NCI-H292 EPCAM KO	Cancer cell line	Female
CVCL_E6Q8	Genomeditech CHO-K1 H_EPCAM	Spontaneously immortalized cell line	Female
CVCL_E8GZ	CT26-hEpCam-LZ	Cancer cell line	Female
CVCL_UE39	293T human Epcam	Transformed cell line	Female

Clinical trials (associated diseases)

401 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00190697	PHASE4	COMPLETED	A Study of LY353381 (Arzoxifene) for Patients Who Benefitted From This Drug in Other Oncology Trials and Wished to Continue Treatment
NCT00277160	PHASE4	COMPLETED	A Study of Primary Prophylaxis With Neulasta (Pegfilgrastim) Versus Secondary Prophylaxis After Chemotherapy in Elderly Subjects (>/= 65 Years Old) With Cancer
NCT00727961	PHASE4	COMPLETED	A Study to Evaluate Efficacy and Tolerance of Caelyx in Patients With Epithelial Ovarian Cancer. (Study P04072)(COMPLETED)
NCT00740116	PHASE4	COMPLETED	Tranexamic Acid in Surgery of Advanced Ovarian Cancer
NCT00817479	PHASE4	COMPLETED	Tumor Gene Expression in Women With Ovarian Cancer
NCT01432015	PHASE4	COMPLETED	Fosaprepitant Versus Aprepitant in the Prevention of Chemotherapy Induced Nausea and Vomiting
NCT01706120	PHASE4	UNKNOWN	Study of Clinical and Biological Prognostic Factors in Patients With Ovarian Cancer Receiving Carboplatin +Paclitaxel With Bevacizumab
NCT01932125	PHASE4	COMPLETED	An Interventional Study of Avastin (Bevacizumab) in Patients With Advanced/Metastatic Epithelial Ovarian Cancer, Fallopian Tube Cancer or Primary Peritoneal Cancer
NCT01953107	PHASE4	COMPLETED	Oral Iron vs. Placebo in Newly Diagnosed Gynecologic Oncology Patients Who Are Surgical Candidates.
NCT02035345	PHASE4	TERMINATED	Slowed Carboplatin Infusion for Ovarian Cancer Patients Receiving Carboplatin Re-Treatment
NCT02243059	PHASE4	WITHDRAWN	Magnetic Resonance Imaging for Lymph Node Staging in Ovarian Cancer
NCT03164980	PHASE4	TERMINATED	QoL-Comparison Between Trabectedin/PLD and Pt-based Therapy in Patients With Pt-sensitive Recurrent Ovarian Cancer
NCT03384511	PHASE4	COMPLETED	The Use of 18F-ALF-NOTA-PRGD2 PET/CT Scan to Predict the Efficacy and Adverse Events of Apatinib in Malignancies.
NCT03543462	PHASE4	COMPLETED	Diaphragmatic Resection And Gynecological Ovarian Neoplasm
NCT03752216	PHASE4	COMPLETED	NIraparib and Quality of LifE is a Longitudinal Study Evaluating in Real Life the Tolerability of Niraparib.
NCT03858166	PHASE4	TERMINATED	Efficacy and Safety of PEG-rhG-CSF Secondary Prophylaxis vs. Therapeutic Administration in Patients With Ovarian Cancer
NCT04024254	PHASE4	COMPLETED	A Study of Serum Folate Levels in Patients Treated With Olaparib
NCT04330040	PHASE4	COMPLETED	Prospective Multicentre Phase-IV Clinical Trial of Olaparib in Indian Patients With Ovarian and Metastatic Breast Cancer
NCT04352439	PHASE4	COMPLETED	Aspirin for Prevention of Venous Thromboembolism Among Ovarian Cancer Patients Receiving Neoadjuvant Chemotherapy
NCT05187208	PHASE4	UNKNOWN	PARP Inhibitor Oral Maintenance in Low-Risk Ovarian Cancer
NCT05606692	PHASE4	RECRUITING	Influences of Propofol and Sevoflurane Anesthesia in Ovarian Cancer (Anesthetics)
NCT05926336	PHASE4	RECRUITING	The Effects of Using Different Anesthetics on the Prognosis of Primary Tumors and Its Mechanism of Action
NCT06412120	PHASE4	RECRUITING	Study Evaluating Safety, Tolerability, and Metabolism of Niraparib
NCT06871787	PHASE4	NOT_YET_RECRUITING	Near-Infrared Fluorescence Imaging With Indocyanine Green to Evaluate Bowel Anastomoses in Gynecologic Oncology Surgery
NCT06887933	PHASE4	NOT_YET_RECRUITING	A Trial to Evaluate the Safety of Niraparib Tablets in Adult Female Participants With Advanced or Relapsed Epithelial Ovarian Cancer
NCT07469202	PHASE4	NOT_YET_RECRUITING	CYTALUX Dose Extension Study
NCT00566644	PHASE3	TERMINATED	Intrauterine Levonorgestrel and Observation or Observation Alone in Preventing Atypical Endometrial Hyperplasia and Endometrial Cancer in Women With Hereditary Non-Polyposis Colorectal Cancer or Lynch Syndrome
NCT02000089	PHASE3	RECRUITING	The Cancer of the Pancreas Screening-5 CAPS5)Study
NCT02813824	PHASE3	ACTIVE_NOT_RECRUITING	Effect of Chemoprevention by Low-dose Aspirin of New or Recurrent Colorectal Adenomas in Patients With Lynch Syndrome
NCT02912559	PHASE3	ACTIVE_NOT_RECRUITING	Combination Chemotherapy With or Without Atezolizumab in Treating Patients With Stage III Colon Cancer and Deficient DNA Mismatch Repair
NCT04711434	PHASE3	UNKNOWN	PD-1 Antibody for The Prevention of Adenomatous Polyps and Second Primary Tumors in Lynch Syndrome Patients
NCT07609901	PHASE3	NOT_YET_RECRUITING	Preventive Dendritic Cell Vaccination for Lynch Syndrome Carriers
NCT00001806	PHASE3	COMPLETED	Methods in Education for Breast Cancer Genetics
NCT00002477	PHASE3	UNKNOWN	Adjuvant Chemotherapy Compared With Observation in Treating Patients With Resected Early Stage Ovarian Epithelial Cancer
NCT00002568	PHASE3	COMPLETED	Combination Chemotherapy With or Without Surgery in Treating Patients With Stage III Ovarian Epithelial Cancer
NCT00002641	PHASE3	COMPLETED	Surgery With or Without Chemotherapy in Treating Patients With Soft Tissue Sarcoma
NCT00002717	PHASE3	COMPLETED	Paclitaxel and Cisplatin in Treating Patients With Stage III or Stage IV Ovarian Cancer or Primary Peritoneal Cancer
NCT00002764	PHASE3	COMPLETED	Surgery With or Without Combination Chemotherapy in Treating Patients With Lung Metastases From Soft Tissue Sarcoma
NCT00002819	PHASE3	TERMINATED	Chemotherapy With or Without Peripheral Stem Cell Transplantation in Treating Patients With Persistent Ovarian Epithelial Cancer
NCT00002894	PHASE3	COMPLETED	Platinum-based Chemotherapy With or Without Paclitaxel in Treating Patients With Relapsed Ovarian Cancer