Publication
Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition.
Authors not recorded
- 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
- cancerMedulloblastomacivic_curation1.00
- drugSonidegibcivic_curation1.00
- genePTCH1civic_curation1.00
- variantPTCH1 Mutationcivic_curation1.00
Curated evidence
Evidence citing this paper (5)
- 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
- 24651015
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| MYCN Amplification1 | ||||||||
| Sonidegib | MedulloblastomaCURATED_BROADER | Predictive | D | Supports Resistance | 3 | submitted | EID5325In a sonic hedgehog driven medulloblastoma patient derived xenograft harbouring a MYCN amplification, SMO inhibitor Sonidegib did not have an effect on cell proliferation. PMID 24651015 · Kool et al., 2014 · Open in CIViC | civic |
| PTCH1 Deletion1 | ||||||||
| Sonidegib | MedulloblastomaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID5326In a sonic hedghehog driven medulloblastoma patient derived xenograft harbouring a PTCH1 deletion, SMO inhibition with Sonidegib showed inhibition of proliferation. PMID 24651015 · Kool et al., 2014 · Open in CIViC | civic |
| PTCH1 Mutation1 | ||||||||
| Sonidegib | MedulloblastomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 4 | accepted | EID748133 sonic-hedghog driven medulloblastomas were sequenced for alterations (WGS or WES). 60 cases exhibited PTCH1 mutations, most of which were likely loss-of-function (spread across the gene and of typ… (full text at CIViC) PMID 24651015 · Kool et al., 2014 · Open in CIViC | civic |
| SUFU Deletion1 | ||||||||
| Sonidegib | MedulloblastomaCURATED_BROADER | Predictive | D | Supports Resistance | 3 | submitted | EID5324In a sonic hedgehog driven medulloblastoma patient derived xenograft harbouring a SUFU deletion, SMO inhibition with LDE225 (Sonidegib) did not affect cell proliferation. PMID 24651015 · Kool et al., 2014 · Open in CIViC | civic |
| TP53 Mutation1 | ||||||||
| (diagnostic) | Medulloblastoma, SHH-Activated, TP53-MutantALIAS | Diagnostic | B | Supports Positive | 4 | submitted | EID8345One of the goals of this study is to understand the biology of the sonic-hedgehog subgroup of medulloblastoma (SHH-MB) across different age groups. A large cohort of patients (n=133) with SHH-MB, incl… (full text at CIViC) PMID 24651015 · Kool et al., 2014 · Open in CIViC | civic |