ACTB

Overview

ACTB encodes beta-actin, a ubiquitous cytoskeletal protein involved in cell motility, structure, and intracellular signaling. While classically considered a housekeeping gene, whole-exome sequencing studies have identified recurrent somatic mutations in ACTB in diffuse large B-cell lymphoma (DLBCL), suggesting a role in lymphomagenesis beyond its structural function.

Alterations observed in the corpus

  • 5 somatic mutations in 5 patients (4 unique sites) detected by whole-exome sequencing of 55 DLBCL tumors; mutations carry high predicted functional consequence scores PMID:22343534
  • Noncanonical MYB fusion partner in adenoid cystic carcinoma (AdCC): ACTBex3::MYBex3 in-frame fusion identified in 1 nasal cavity AdCC with high-grade features and comedo-like necrosis PMID:24418857
  • Harbours a somatic Rho-pathway mutation in adenoid cystic carcinoma (ACC/ACYC), identified alongside RHOA and other Rho-GEF mutations in a 25-tumour WGS cohort PMID:26862087

Cancer types (linked)

  • DLBCL: Recurrent somatic mutations identified by whole-exome sequencing; functional significance under investigation PMID:22343534

Co-occurrence and mutual exclusivity

Therapeutic relevance

  • No direct therapeutic targeting reported in the corpus.

Open questions

  • The functional consequences of ACTB mutations in DLBCL remain unresolved; it is unclear whether these mutations drive lymphomagenesis or arise as passengers due to aberrant somatic hypermutation PMID:22343534

Sources

  • PMID:22343534 — Whole-exome sequencing identifies recurrent mutations in DLBCL (Broad Institute, 55 tumors)

This page was processed by crosslinker on 2026-05-09. - PMID:24418857

This page was processed by crosslinker on 2026-05-09. - PMID:26862087

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