BTG1

Overview

BTG1 (B-cell translocation gene 1) is an anti-proliferative protein involved in cell cycle regulation and apoptosis. It is a member of the BTG/TOB family and acts as a transcriptional co-regulator. Inactivating mutations in BTG1 have been identified in B-cell lymphomas, consistent with a tumor suppressor role in the germinal center B-cell context.

Alterations observed in the corpus

  • Nonsense and missense mutations identified as recurrent alterations in DLBCL and FL by whole-genome/exome sequencing of non-Hodgkin lymphomas; implicated in apoptosis regulation PMID:21796119
  • Identified as a recurrently mutated gene in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing of 55 tumors PMID:22343534
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Cancer types (linked)

  • DLBCL / FL: Recurrent loss-of-function mutations detected alongside other recurrently mutated genes including KMT2D, CREBBP, and TP53 PMID:21796119

Co-occurrence and mutual exclusivity

  • Co-mutated with other apoptosis and cell-cycle regulators (TP53, BCL2) in lymphoma; specific mutual exclusivity patterns not yet established in the corpus.

Therapeutic relevance

  • No direct therapeutic targeting established; loss of BTG1 may contribute to chemotherapy resistance by impairing apoptotic response.

Open questions

  • Frequency of BTG1 mutations in GCB vs ABC DLBCL subtypes, and whether mutations are biallelic, remain open questions.

Sources

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