Publication
Segmental basal cell naevus syndrome caused by an activating mutation in smoothened.
Authors not recorded
Br J Dermatol2016PMID 26822128stubpubmedProvenance
- Source
- PubMed
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CIVIC-20260908-000001
Abstract
Abstract (excerpt)
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Linked entities
Linked entities (4)
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 4
- cancerBasal Cell Carcinomacivic_curation1.00
- drugVismodegibcivic_curation1.00
- geneSMOcivic_curation1.00
- variantSMO L412Fcivic_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
- 26822128
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| SMO L412F1 | ||||||||
| Vismodegib | Basal Cell Carcinoma | Predictive | C | Supports Resistance | — | accepted | EID4654An Arab basal cell carcinoma patient harboring SMO L412F mutation was associated with response to vismodegib monotherapy. Prior to the identification of the mutation, the patient was treated with acit… (full text at CIViC) PMID 26822128 · Khamaysi et al., 2016 · Open in CIViC | civic |