PLCE1
Overview
PLCE1 encodes phospholipase C epsilon 1, a signaling enzyme involved in cellular growth and differentiation. PLCE1 variants have been identified as low-penetrance gastric cancer susceptibility loci through genome-wide association studies, particularly in East Asian populations. The individual risk increment per variant is small, but clustering of susceptibility alleles may contribute to familial gastric cancer aggregation.
Alterations observed in the corpus
- Low-penetrance GWAS susceptibility locus for gastric cancer; individually small risk increment but clustering in a single family may partly explain familial aggregation of gastric cancer PMID:24816255
Cancer types (linked)
- Gastric cancer (STAD): PLCE1 identified as a low-penetrance gastric cancer risk locus in GWAS analyses; relevant to risk stratification in familial non-hereditary gastric cancer (FNHGC) evaluation PMID:24816255
Co-occurrence and mutual exclusivity
- Co-evaluated with other low-penetrance gastric cancer susceptibility loci including MUC1, PSCA, and PRKAA1 in familial gastric cancer risk assessment PMID:24816255
Therapeutic relevance
- No direct therapeutic targeting in the current corpus; PLCE1 variant status may contribute to polygenic risk score models for gastric cancer screening, though PRS for GC are not yet clinically actionable PMID:24816255
Open questions
- Polygenic risk scores combining PLCE1 with other GWAS loci for gastric cancer are not yet validated for clinical use; ancestry portability and integration with environmental exposures remain unresolved PMID:24816255
Sources
This page was processed by entity-page-writer on 2026-05-11.