SUFU
Overview
SUFU (Suppressor of Fused Homolog) encodes a negative regulator of the Hedgehog (HH) signaling pathway that sequesters GLI transcription factors in the cytoplasm, preventing their nuclear entry. Loss of SUFU results in constitutive Hedgehog pathway activation and is associated with medulloblastoma (particularly the SHH subtype) and basal cell carcinoma. Overexpression of SUFU pathway components (including PTCH1 and ZIC3) marks certain HH-activated tumors.
Alterations observed in the corpus
- SUFU overexpression (alongside PTCH1 and ZIC3) identified in a pediatric medulloblastoma (MBL) case in the PIPseq pediatric precision sequencing program (n=101, Columbia University); designated as an SMO (Smoothened) inhibitor target. PMID:28007021
- Germline variants predominantly restricted to SHH medulloblastoma in the 491-sample ICGC cohort PMID:28726821
Cancer types (linked)
- MBL: SUFU overexpression together with PTCH1 and ZIC3 marks Hedgehog-activated medulloblastoma; SMO inhibitors (vismodegib, sonidegib) are the relevant targeted class. PMID:28007021
Co-occurrence and mutual exclusivity
- Co-overexpressed with PTCH1 and ZIC3 as a Hedgehog pathway expression signature in pediatric MBL. PMID:28007021
Therapeutic relevance
- SMO inhibitors designated as targeted therapy for SUFU/PTCH1/ZIC3 overexpression-defined Hedgehog-activated MBL in the PIPseq cohort. PMID:28007021
Open questions
- Whether overexpression alone (vs. loss-of-function mutation in SUFU) predicts SMO-inhibitor response in pediatric MBL requires further study. PMID:28007021
Sources
This page was processed by entity-page-writer on 2026-05-15. - PMID:28726821
This page was processed by wiki-cli on 2026-05-15.