SRGAP2
Overview
SRGAP2 (Slit-Robo Rho GTPase-Activating Protein 2) is a GTPase-activating protein that couples ROBO receptor signaling to actin cytoskeleton remodeling, regulating neuronal migration and dendritic spine morphogenesis. SRGAP2 acts downstream of SLIT ligands in the canonical SLIT-ROBO-SRGAP pathway. In adenoid cystic carcinoma (ACC), SRGAP2 mutation is part of a recurrently disrupted axon-guidance pathway.
Alterations observed in the corpus
- SRGAP2 single-tumor somatic mutation detected in adenoid cystic carcinoma (ACC) of the salivary gland as part of a recurrently disrupted axon-guidance pathway (56% of tumors in the cohort) PMID:26862087
Cancer types (linked)
- Adenoid cystic carcinoma (ACC): SRGAP2 mutation contributes to axon-guidance pathway disruption; the same pathway is disrupted in pancreatic adenocarcinoma, another perineural-invasion-prone malignancy PMID:26862087
Co-occurrence and mutual exclusivity
Therapeutic relevance
- Rho-pathway and axon-guidance pathway inhibition flagged as candidate therapeutic strategies for ACC; no functional or clinical data specific to SRGAP2 PMID:26862087
Open questions
- Functional consequence of SRGAP2 mutation in ACC and its mechanistic link to perineural invasion are uncharacterized PMID:26862087
Sources
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