PLCG1

Overview

PLCG1 (phospholipase C gamma 1) encodes a signaling enzyme involved in receptor tyrosine kinase pathways. PLCG1 mutations have been identified in radiation-associated angiosarcoma, where they may contribute to aberrant vascular signaling.

Alterations observed in the corpus

  • PLCG1 mutations were identified in RT-AS in a whole-genome sequencing study of radiation-associated secondary malignancies; PLCG1 mutations were found alongside PTPRB mutations in RT-AS driver landscapes PMID:37350195.
  • Three point mutations in Sézary syndrome: novel p.Gly722Val and previously reported gain-of-function alleles p.Arg48Trp and p.Glu1163Lys PMID:26551667

Cancer types (linked)

Co-occurrence and mutual exclusivity

Therapeutic relevance

  • No PLCG1-directed therapy is reported in this corpus PMID:37350195.

Open questions

  • The prevalence and functional significance of PLCG1 mutations in RT-AS vs sporadic AS has not been fully characterized in the MSK-IMPACT cohort PMID:37350195.

Sources

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