CSMD3
Overview
CSMD3 (CUB and Sushi multiple domains 3) encodes a large transmembrane protein with roles in complement regulation and neural development. In cancer genomics, CSMD3 has been identified as a recurrently mutated gene in multiple tumor types, including high-grade serous ovarian carcinoma (HGSOC), though its precise tumor suppressor mechanism is not fully characterized.
Alterations observed in the corpus
- Identified as one of only 9 genes significantly mutated above background in HGSOC (316 samples) in the TCGA integrated genomic analysis of ovarian carcinoma PMID:21720365
Cancer types (linked)
Co-occurrence and mutual exclusivity
- Co-occurs in the context of a background of near-universal TP53 mutation (96%) in HGSOC; specific co-mutation patterns with other significantly mutated genes not established in the corpus.
Therapeutic relevance
- No direct therapeutic targeting established for CSMD3. Its identification as a significantly mutated gene in HGSOC is of interest for understanding the full landscape of HGSOC drivers.
Open questions
- The functional consequence of CSMD3 mutations in HGSOC (truncating vs missense distribution, tumor suppressor validation) is not well characterized in the corpus.
Sources
This page was processed by entity-page-writer on 2026-05-06.