Gene
POT1
protection of telomeres 1
Explore in graph →CI-GENE-00020444HGNC:17284 ENSG00000128513 NCBI 25913 CIViC Cancer geneApproved
Curated evidence
Clinical evidence (1)
CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.
- 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
- 27226433
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| POT1 MUTATION1 | ||||||||
| (prognostic) | Chronic Lymphocytic Leukemia | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID1590In previously untreated patients with chronic lymphocytic leukemia, POT1 mutations (N=13) were associated with shorter overall survival than wildtype POT1 (N=148) in univariate and multivariate analys… (full text at CIViC) PMID 27226433 · Herling et al., 2016 · Open in CIViC | civic |
Cohorts
Alteration frequency by cohort (22)
Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.
- Source
- cBioPortal for Cancer Genomics (public studies)
- Dataset
- cBioPortal mutated genes by study
- Version
- cbioportal-2026-09-01
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- cohort
- License
- ODC Open Database License (ODC-ODbL) unless otherwise noted per study; attribution to the original studies required
- Run
- ING-CBIOPORTAL-20260908-000001
| Cohort | Mapped cancer | Alteration | Affected (n) | Profiled (n) | Frequency (%) | Rank in cohort | Source |
|---|---|---|---|---|---|---|---|
| The Angiosarcoma Project (Provisional, July 2020) angs_painter_2020 | Angiosarcoma | Ssm | 15 | 83 | 18.1% | 6 |
Literature
Linked publications (1)
25 per page, newest first.
- Source
- PubMed (NLM)
- Dataset
- PubMed E-utilities
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
· Blood · 2016 · PMID 27226433 · validated civic_curation pubmed