FAT4

Overview

FAT4 is a protocadherin and putative tumor suppressor gene encoding a large transmembrane protein involved in tissue polarity and Hippo pathway regulation. Truncating mutations in FAT4 have been identified in adenoid cystic carcinoma (ACC), with functional knockdown experiments demonstrating a growth-suppressor role.

Alterations observed in the corpus

  • Truncating mutations identified in adenoid cystic carcinoma (ACC); functional growth-suppressor knockdown phenotype demonstrated PMID:23685749
  • Identified as a newly mutated gene in transitional cell carcinoma of the bladder (BLCA) by whole-exome sequencing of 99 tumors; functional characterization in TCC is not yet performed and was explicitly recommended as future work PMID:24121792
  • FAT4 mutation was detected as unique to the plasmacytoid component (alongside CDH1 Y68fs and PTEN) in multi-region exon capture of a mixed plasmacytoid/urothelial NOS bladder tumor, consistent with a branch-point event driving plasmacytoid differentiation PMID:26901067

Cancer types (linked)

  • ACC (adenoid cystic carcinoma) — truncating mutations; classified alongside FAT3 as protocadherin tumor suppressors mutated in this salivary gland malignancy PMID:23685749

Co-occurrence and mutual exclusivity

  • Co-mutated with FAT3 and other tumor suppressors in ACC; part of a diverse mutational landscape also involving chromatin-remodeling genes (EP300, CREBBP, KDM6A) PMID:23685749

Therapeutic relevance

Open questions

  • Mutation frequency not precisely quantified in this cohort; functional mechanism linking FAT4 loss to ACC pathogenesis remains to be elucidated PMID:23685749

Sources

This page was processed by crosslinker on 2026-05-09. - PMID:24121792

This page was processed by crosslinker on 2026-05-09. - PMID:26901067

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