EPCAM

Chr 2

epithelial cell adhesion molecule

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

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDiarrhea 5, with tufting enteropathy, congenital
UniProtLynch syndrome 8

Clinical highlights

Gene-disease validity (ClinGen)
Lynch syndrome · ADDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
12
Active trials
598
Pubs (1 yr)
P/LP submissions
P/LP missense
1.16
LOEUF
LOF
Mechanism· G2P
Some data sources returned errors (2)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.16LOEUF
pLI 0.000
Z-score 1.06
OE 0.73 (0.471.16)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.43Z-score
OE missense 1.31 (1.171.47)
219 obs / 167.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.73 (0.471.16)
00.351.4
Missense OE?1.31 (1.171.47)
00.61.4
Synonymous OE?1.27
01.21.6
LoF obs/exp: 13 / 17.8Missense obs/exp: 219 / 167.0Syn Z: -1.65

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

EPCAM · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

Colorectal Cancer

ASPIRED-XT: ASPirin Intervention for the REDuction of Colorectal Cancer Risk -EXTension

ACTIVE NOT RECRUITING
NCT05056896Phase EARLY_PHASE1Massachusetts General HospitalStarted 2022-06-03
AspirinPlacebo
Prostate CancerFamilial Prostate Cancer

Prostate Cancer Prevention Clinic for Men With Risk of Familial Prostate Cancer

NOT YET RECRUITING
NCT05681416Phase NAHeinrich-Heine University, DuesseldorfStarted 2023-02-01
Panel sequencing, whole exome sequencing, whole genome sequencing
BRCA-Mutated Ovarian CarcinomaBRIP1 Gene MutationMSH2 A636P

Cascade Testing in Families With Newly Diagnosed Hereditary Breast and Ovarian Cancer Syndrome

ACTIVE NOT RECRUITING
NCT04009148NYU Langone HealthStarted 2019-03-01
CASCADE genetic screening
Lynch Syndrome

CAD-EYE System for the Detection of Neoplastic Lesions in Patients With Lynch Syndrome

RECRUITING
NCT05963191Phase NAPERROD GuillaumeStarted 2024-04-18
Colorectal cancer screening with CAD EYE colonoscopy
Deleterious BARD1 Gene MutationDeleterious BRCA1 Gene MutationDeleterious BRCA2 Gene Mutation

Surgery in Preventing Ovarian Cancer in Patients With Genetic Mutations

ACTIVE NOT RECRUITING
NCT02760849Phase NAM.D. Anderson Cancer CenterStarted 2016-05-02
Laboratory Biomarker AnalysisOophorectomyQuality-of-Life Assessment
Circulating Tumor CellHNSCC

Using a 3D Culture Model for Circulating Tumor Cells Combined With Molecular Bioassays in Patients With HNSCC Cancer

RECRUITING
NCT06755762Chang Gung Memorial HospitalStarted 2024-08-01
Organoid 3D culture
BRCA1 MutationPOLD1 Gene MutationCDKN2A Mutation

An Intervention to Increase Genetic Testing in Families Who May Share a Gene Mutation Related to Cancer Risk and An Intervention to Help Patients and Their Primary Care Providers Stay Up-to-date About Uncertain Genetic Test Results

RECRUITING
NCT05420064Phase NAMemorial Sloan Kettering Cancer CenterStarted 2022-12-01
Intervention Arm At-risk Relative/ARR ContactsMyGene PortalStandard of Care
Colorectal CancerAdenoma ColonAdenoma Colon Polyp

Liquid Biopsy and Machine Learning for Early Colorectal Cancer, Adenomas, Lynch Cancers, and Residual Disease Detection

RECRUITING
NCT07450612San Raffaele UniversityStarted 2024-01-01
BEACON
Pancreas CancerPancreas CystPancreatic Ductal Adenocarcinoma

Pancreatic Cancer Early Detection Consortium

RECRUITING
NCT04970056Arbor Research Collaborative for HealthStarted 2020-09-18
Crohn Disease

Unveiling the Microbial Impact on Intestinal Fibrosis

NOT YET RECRUITING
NCT06073288IRCCS San RaffaeleStarted 2023-11-01
Surgical specimens of CD and no-IBD patients
Hereditary Breast/Ovarian Cancer (brca1, brca2)Lynch SyndromeGenetic Variation

Patient Centered Clinical Decision Support for Hereditary Cancer Syndromes

ENROLLING BY INVITATION
NCT06914726Phase NAHealthPartners InstituteStarted 2025-07-09
Patient Centered Clinical Decision Support (PC-CDS)
Lymphoma, Non-HodgkinMultiple MyelomaAdvanced Solid Tumors

TAPUR: Testing the Use of Food and Drug Administration (FDA) Approved Drugs That Target a Specific Abnormality in a Tumor Gene in People With Advanced Stage Cancer

RECRUITING
NCT02693535Phase PHASE2American Society of Clinical OncologyStarted 2016-03-14
SunitinibTemsirolimusTrastuzumab and Pertuzumab