Recurrent somatic mutation of FAT1 in multiple human cancers leads to aberrant Wnt activation

Nat Genet. 2013 Mar;45(3):253-61. doi: 10.1038/ng.2538. Epub 2013 Jan 27.

Abstract

Aberrant Wnt signaling can drive cancer development. In many cancer types, the genetic basis of Wnt pathway activation remains incompletely understood. Here, we report recurrent somatic mutations of the Drosophila melanogaster tumor suppressor-related gene FAT1 in glioblastoma (20.5%), colorectal cancer (7.7%), and head and neck cancer (6.7%). FAT1 encodes a cadherin-like protein, which we found is able to potently suppress cancer cell growth in vitro and in vivo by binding β-catenin and antagonizing its nuclear localization. Inactivation of FAT1 via mutation therefore promotes Wnt signaling and tumorigenesis and affects patient survival. Taken together, these data strongly point to FAT1 as a tumor suppressor gene driving loss of chromosome 4q35, a prevalent region of deletion in cancer. Loss of FAT1 function is a frequent event during oncogenesis. These findings address two outstanding issues in cancer biology: the basis of Wnt activation in non-colorectal tumors and the identity of a 4q35 tumor suppressor.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cadherins* / genetics
  • Cadherins* / metabolism
  • Cell Line, Tumor
  • Cell Transformation, Neoplastic
  • Chromosomes, Human, Pair 4 / genetics
  • Disease Models, Animal
  • Drosophila Proteins* / genetics
  • Drosophila Proteins* / metabolism
  • Drosophila melanogaster / genetics*
  • Humans
  • Mutation
  • Neoplasms* / genetics
  • Neoplasms* / metabolism
  • Signal Transduction / genetics
  • Transcriptional Activation / genetics
  • Wnt Signaling Pathway / genetics*

Substances

  • Cadherins
  • Drosophila Proteins
  • FAT1 protein, human

Associated data

  • GEO/GSE40583