Gene
EPCAM
epithelial cell adhesion molecule
Explore in graph →CI-GENE-00044841HGNC:11529 ENSG00000119888 NCBI 4072 CIViC Cancer geneApproved
Curated evidence
Clinical evidence (2)
CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 21309036
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| EPCAM 3' Exon Deletion1 | ||||||||
| (predisposing) | Lynch SyndromeUNRESOLVED | Predisposing | B | Supports Predisposition | 4 | accepted | EID1901Rare but recurring germline truncating mutations of the 3’ end of EPCAM, were reported for 27 independent families, shown to lead to epigenetic silencing of a neighbouring gene, MSH2, and suggested to… (full text at CIViC) PMID 21309036 · Kuiper et al., 2011 · Open in CIViC | civic |
| EPCAM c.556‐490_*8438del1 | ||||||||
| (predisposing) | Malignant Colorectal NeoplasmCURATED_BROADER | Predisposing | B | Supports Predisposition | 3 | submitted | EID115185 out of 224 Lynch syndrome unrelated patients (2%) presented an EPCAM deletion. All patients were diagnosed with colorectal cancer (CRC) at an early age (<50 years) and had a positive family history.… | |
Cohorts
Alteration frequency by cohort (7)
Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.
- Source
- cBioPortal for Cancer Genomics (public studies)
- Dataset
- cBioPortal mutated genes by study
- Version
- cbioportal-2026-09-01
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- cohort
- License
- ODC Open Database License (ODC-ODbL) unless otherwise noted per study; attribution to the original studies required
- PMID
- 28007021
- Run
- ING-CBIOPORTAL-20260908-000001
| Cohort | Mapped cancer | Alteration | Affected (n) | Profiled (n) | Frequency (%) | Rank in cohort | Source |
|---|---|---|---|---|---|---|---|
| Pediatric Pan-cancer (Columbia U, Genome Med 2016) mixed_pipseq_2017 | unmapped | Ssm | 11 | 103 | 10.7% |
Literature
Linked publications (1)
25 per page, newest first.
- Source
- PubMed (NLM)
- Dataset
- PubMed E-utilities
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
· Hum Mutat · 2011 · PMID 21309036 · validated civic_curation pubmed