MUC4
Overview
MUC4 encodes a large transmembrane mucin glycoprotein that forms a protective barrier at epithelial surfaces. In cancer, MUC4 overexpression has been associated with pancreatic ductal adenocarcinoma and other gastrointestinal malignancies, where it may promote invasion, metastasis, and resistance to apoptosis by steric inhibition of receptor tyrosine kinase interactions.
Alterations observed in the corpus
- MUC4 was identified as a somatically mutated gene in whole-exome sequencing of pancreatic cystic neoplasms (SCAs, IPMNs, MCNs, SPNs), a study that defined VHL, RNF43, GNAS, and CTNNB1 as the primary drivers by cyst type PMID:22158988
Cancer types (linked)
- Pancreatic cystic neoplasms: detected as a somatically mutated gene across cyst types in WES PMID:22158988
Co-occurrence and mutual exclusivity
- Observed in pancreatic cystic neoplasms alongside primary drivers VHL (SCA), RNF43 (IPMN/MCN), GNAS (IPMN), and CTNNB1 (SPN) PMID:22158988
Therapeutic relevance
- No targeted therapies directly addressing MUC4 reported in the corpus.
Open questions
- MUC4 mutations in pancreatic cystic neoplasms are likely passengers given the high background mutation rate; driver status is unresolved PMID:22158988
Sources
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