GATA3

Overview

One-paragraph summary of the gene’s role and why it matters in cancer genomics.

Alterations observed in the corpus

  • Mutated in 7% of a longitudinal African breast cancer cohort PMID:36585450
  • GATA3 identified as a significantly mutated gene in breast cancer WES cohort (Sanger Institute, 100 tumors); mutations predominantly truncating, implicating loss of transcriptional regulation in luminal breast cancer PMID:22722201
  • GATA3 recurrently mutated in breast cancer WES/WGS cohort (Broad Institute, 103 tumors); mutations associate with luminal subtype and PIK3CA/AKT pathway co-alterations PMID:22722202
  • Significantly mutated in luminal A and luminal B breast cancer (TCGA, 510 tumors); frameshift and truncating mutations observed PMID:23000897
  • GATA3 identified among significantly mutated genes in muscle-invasive bladder cancer in TCGA urothelial carcinoma comprehensive genomic characterization PMID:24476821
  • IDC-enriched mutations (20% LumA IDC vs 5% LumA ILC); mutually exclusive with FOXA1 mutations; LumA ILC has lower GATA3 mRNA and protein levels PMID:26451490
  • Mutated in 11.1% of breast cancers; enriched in HER2+/ER+ (8.2%) vs HER2+/ER- (0.5%); mutations associated with younger age, lower grade, and longer survival (HR=0.58 in ER+) PMID:27161491
  • Identified as one of 12 significantly mutated driver genes in metastatic breast cancer (BRCA) by MutSig (FDR<0.1) in 216 mBC samples; also a known eBC driver, not enriched in the metastatic setting PMID:28027327.
  • Recurrently amplified in MIBC; differentially expressed across mRNA subtypes; key luminal-driver transcription factor by regulon analysis; GATA3 regulon activity associated with better survival in multivariate model; co-driver with FOXA1 and PPARG in the luminal transcriptional program PMID:28988769

Cancer types (linked)

  • Per cancer type: prevalence, co-mutation patterns, clinical significance.

Co-occurrence and mutual exclusivity

  • Linked partner genes with the relationship and the paper(s) reporting it.

Therapeutic relevance

  • Drugs (linked) targeting this gene or its pathway, with the studies supporting them.

Open questions

  • Conflicts or unresolved findings across papers.

Sources

This page was processed by crosslinker on 2026-05-14. - PMID:22722201

This page was processed by crosslinker on 2026-05-14. - PMID:22722202

This page was processed by crosslinker on 2026-05-14. - PMID:23000897

This page was processed by crosslinker on 2026-05-14. - PMID:24476821

This page was processed by crosslinker on 2026-05-14. - PMID:26451490

This page was processed by crosslinker on 2026-05-14. - PMID:27161491

This page was processed by wiki-cli on 2026-05-14. - PMID:28027327

This page was processed by wiki-cli on 2026-05-14. - PMID:28988769

This page was processed by wiki-cli on 2026-05-15.