GALNT7

Overview

GALNT7 (Polypeptide N-Acetylgalactosaminyltransferase 7) encodes a UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase involved in O-linked glycosylation. In esophageal adenocarcinoma (EAC), GALNT7 was identified as a fusion partner in an AXIN1-GALNT7 structural rearrangement detected by whole-genome sequencing, implicating O-glycosylation disruption in a subset of EAC.

Alterations observed in the corpus

  • Identified as the fusion partner in an AXIN1–GALNT7 fusion detected by whole-genome sequencing in EAC tumor ESO-1060; the fusion was identified in the context of β-catenin-pathway rearrangements in EAC PMID:23525077

Cancer types (linked)

  • EAC: Fusion partner (AXIN1-GALNT7) identified by WGS in one EAC tumor; context of β-catenin pathway disruption PMID:23525077

Co-occurrence and mutual exclusivity

  • Fusion involves AXIN1, a negative regulator of the WNT/β-catenin pathway; β-catenin pathway mutations (APC, CDH1, AXIN1, CTNNB1) occur in only 9% of EACs PMID:23525077

Therapeutic relevance

  • No direct therapeutic targeting reported in the corpus.

Open questions

  • Whether the AXIN1-GALNT7 fusion disrupts AXIN1 function (releasing β-catenin) or alters GALNT7 glycosylation activity has not been experimentally determined.

Sources

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