POT1

Overview

POT1 (protection of telomeres protein 1) encodes a single-stranded telomeric DNA-binding protein that is a core component of the shelterin complex. POT1 mutations disrupt telomere length regulation and genome stability. It was identified as a newly confirmed CLL driver gene, with mutations validated across multiple independent studies.

Alterations observed in the corpus

  • Identified as a newly confirmed CLL driver gene in WES of 160 CLL tumors (Broad Institute cohort); POT1 mutations were validated by confirmation in other studies PMID:23415222
  • Previously reported driver candidate not confirmed as a PFS hit in the CLL8 chemoimmunotherapy trial; failed to reach significance for shorter progression-free survival in a 538-sample WES cohort PMID:26466571

Cancer types (linked)

  • CLL: newly identified driver gene; mutations recurrent across multiple cohorts PMID:23415222

Co-occurrence and mutual exclusivity

  • No specific co-occurrence or mutual exclusivity patterns reported in the corpus.

Therapeutic relevance

  • No direct therapeutic relevance reported in the corpus; POT1 mutations may contribute to genomic instability and clonal evolution in CLL.

Open questions

  • Clonal versus subclonal status of POT1 mutations in CLL and their prognostic significance require further study.

Sources

This page was processed by entity-page-writer on 2026-05-07. - PMID:26466571

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