FAT1

Overview

FAT1 encodes an atypical cadherin and putative tumor suppressor recurrently altered across multiple cancers, including T-cell lymphomas.

Alterations observed in the corpus

  • Identified as a recurrently altered gene in subset analyses of nodal peripheral T-cell lymphoma profiled on MSK-IMPACT PMID:37078708.
  • Recurrent SNVs identified by SeqSig analysis in anaplastic thyroid carcinoma (ATC); co-observed with MET, NOTCH1, SPEN, and TET1 as recurrently mutated genes PMID:38412093.
  • Hippo pathway-activating mutations observed in individual normal keratinocytes during evolution toward cutaneous squamous cell carcinoma (cSCC); less common than TP53 and NOTCH1 in this context PMID:39091884.
  • Mutated in 30% (12/40) of OSCC tumors (two-thirds inactivating); combined inactivation rate 46% when including focal deletions; candidate tumor suppressor linked to aberrant Wnt activation PMID:23619168
  • FAT1 P1665L mutation observed in 1 case of atypical sinonasal gland arising in seromucinous hamartoma (ASGSH precursor lesion) in sinonasal adenoid cystic carcinoma cohort PMID:24418857
  • Recurrent truncating mutations, LOH, and 3.4% homozygous deletion in ESCC; functional tumor suppressor validated by shRNA knockdown (n=139 tumors) PMID:24686850
  • Mutated in 43.6% of 39 aggressive cSCC tumors; identified as a differentiation-related tumor suppressor by inactivation-bias methods PMID:25303977
  • Mutated in 23% of HNSCC; novel significantly mutated gene; aberrant Wnt/beta-catenin activation; convergent with AJUBA and NOTCH inactivation PMID:25631445
  • FAT1 is among the low-frequency recurrently mutated genes (>=2 ATC or >=3 PDTC) identified by MSK-IMPACT 341-gene sequencing of 117 advanced thyroid tumors PMID:26878173
  • FAT1 identified as a Wnt-pathway alteration in a genomic profiling study of cisplatin-resistant germ cell tumors (GCT), alongside APC and AXIN1 PMID:27646943
  • R937 missense mutation in 1/19 (5%) FISH-confirmed 1p/19q-codeleted oligodendroglioma cases PMID:28472509
  • 12% mutated newly recognized SMG in MIBC; also subject to epigenetic silencing in a mutually exclusive subset of tumors, suggesting both genetic and epigenetic inactivation mechanisms PMID:28988769
  • Altered in 40% (6/15) of vulvar squamous cell carcinomas irrespective of HPV status — the highest-frequency alteration alongside PIK3CA in this first genome-wide WES characterization of vulvar SCC PMID:29422544

Cancer types (linked)

Co-occurrence and mutual exclusivity

  • Not reported in the corpus.

Therapeutic relevance

  • Not reported in the corpus.

Open questions

  • None flagged in the corpus.

Sources

This page was processed by crosslinker on 2026-05-14. - PMID:23619168

This page was processed by crosslinker on 2026-05-14. - PMID:24418857

This page was processed by crosslinker on 2026-05-14. - PMID:24686850

This page was processed by crosslinker on 2026-05-14. - PMID:25303977

This page was processed by crosslinker on 2026-05-14. - PMID:25631445

This page was processed by crosslinker on 2026-05-14. - PMID:26878173

This page was processed by entity-page-writer on 2026-05-15. - PMID:27646943

This page was processed by entity-page-writer on 2026-05-15. - PMID:28472509

This page was processed by wiki-cli on 2026-05-15. - PMID:28988769

This page was processed by wiki-cli on 2026-05-15. - PMID:29422544

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