Publication
VHL gene alterations in renal cell carcinoma patients: novel hotspot or founder mutations and linkage disequilibrium.
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)
Only the opening of the abstract is shown; abstract text may carry publisher copyright.
Data not yet available
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
- cancerRenal Cell Carcinomacivic_curation1.00
- geneVHLcivic_curation1.00
- variantVHL N7D (c.19A>G)civic_curation1.00
- variantVHL W8* (c.24G>A)civic_curation1.00
Curated evidence
Evidence citing this paper (2)
- 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
- 11536052
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| VHL N7D (c.19A>G)1 | ||||||||
| (oncogenic) | Renal Cell CarcinomaCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1948A somatic mutation (N7D) detected in one case, a 79ya patient with renal cell carcinoma (case '1VT'). The patient had a second in-frame deletion of 5 amino acids (41-45), but the author speculate that… (full text at CIViC) PMID 11536052 · Ma et al., 2001 · Open in CIViC | civic |
| VHL W8* (c.24G>A)1 | ||||||||
| (oncogenic) | Renal Cell CarcinomaCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID2986A single case (70 year-old named "3GT" in this study) with sporadic grade 3 renal cell carcinoma was observed with both W8* and G44D somatic variants. PMID 11536052 · Ma et al., 2001 · Open in CIViC | civic |