Publication
Recurrence and variability of germline EPCAM deletions in Lynch syndrome.
Authors not recorded
Hum Mutat2011PMID 21309036stubpubmedProvenance
- Source
- PubMed
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CIVIC-20260908-000001
Abstract
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Linked entities
Linked entities (2)
How each link was made (MeSH, dictionary, registry reference, curation…) and whether it has been validated. Candidate links are not counted in entity statistics.
Validated 2
- geneEPCAMcivic_curation1.00
- variantEPCAM 3' Exon Deletioncivic_curation1.00
Curated evidence
Evidence citing this paper (1)
civicProvenance
- 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 |