Publication
CTNNB1 mutation analysis is a useful tool for the diagnosis of desmoid tumors: a study of 260 desmoid tumors and 191 potential morphologic mimics.
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- 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 (5)
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 5
- cancerDesmoid Fibromatosiscivic_curation1.00
- geneCTNNB1civic_curation1.00
- variantCTNNB1 S45Fcivic_curation1.00
- variantCTNNB1 S45Pcivic_curation1.00
- variantCTNNB1 T41Acivic_curation1.00
Curated evidence
Evidence citing this paper (4)
- 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
- 22766794
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| CTNNB1 Exon 3 Mutation1 | ||||||||
| (diagnostic) | Desmoid FibromatosisALIAS | Diagnostic | B | Supports Positive | 4 | submitted | EID12114An analysis of 260 typical desmoid tumors and 191 cases of spindle cell lesions (which can be difficult to distinguish morphologically from desmoid tumors) identified CTNNB1 mutations in 88% of desmoi… (full text at CIViC) PMID 22766794 · Le Guellec et al., 2012 · Open in CIViC | civic |
| CTNNB1 S45F1 | ||||||||
| (diagnostic) | Desmoid FibromatosisALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID5071In this study a collection of 254 sporadic desmoid tumors were analysed for presence of mutations in CTNNB1. A mutation in exon 3 of the CTNNB1 gene was identified in 223 (88%) of the 254 cases. The C… (full text at CIViC) PMID 22766794 · Le Guellec et al., 2012 · Open in CIViC | civic |
| CTNNB1 S45P1 | ||||||||
| (diagnostic) | Desmoid FibromatosisALIAS | Diagnostic | B | Supports Positive | 3 | accepted | EID5072In this study a collection of 254 sporadic desmoid tumors were analysed for presence of mutations in CTNNB1. A mutation in exon 3 of the CTNNB1 gene was identified in 223 (88%) of the 254 cases. The C… (full text at CIViC) PMID 22766794 · Le Guellec et al., 2012 · Open in CIViC | civic |
| CTNNB1 T41A1 | ||||||||
| (diagnostic) | Desmoid FibromatosisALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID5070In this study a collection of 254 sporadic desmoid tumors were analysed for presence of mutations in CTNNB1. A mutation in exon 3 of the CTNNB1 gene was identified in 223 (88%) of the 254 cases. The C… (full text at CIViC) PMID 22766794 · Le Guellec et al., 2012 · Open in CIViC | civic |