SPAG17
Overview
SPAG17 (sperm associated antigen 17) encodes a protein involved in axonemal structure. In cancer genomics, SPAG17 was identified as a fusion partner of NOTCH2 in metastatic solid tumors, defining a gamma-secretase-inhibitor-sensitive NOTCH fusion class distinct from PARS2-NOTCH2 fusions.
Alterations observed in the corpus
- Fusion partner in NOTCH2-SPAG17 rearrangement in metastatic solid tumors; this class is predicted gamma-secretase-inhibitor-sensitive (unlike PARS2-NOTCH2) PMID:28783718
Cancer types (linked)
- Metastatic solid tumors: NOTCH2-SPAG17 fusion identified in the MET500 cohort (500 metastatic solid tumors sequenced by WGS/RNA-seq) PMID:28783718
Co-occurrence and mutual exclusivity
- NOTCH2-SPAG17 and PARS2-NOTCH2 represent two functionally distinct NOTCH fusion classes with differential drug-sensitivity predictions: NOTCH2-SPAG17 is gamma-secretase-inhibitor-sensitive, PARS2-NOTCH2 is not PMID:28783718
Therapeutic relevance
- NOTCH2-SPAG17 fusion subclass predicted to be gamma-secretase-inhibitor-sensitive, guiding therapy selection over the PARS2-NOTCH2 class PMID:28783718
Open questions
- Functional validation of gamma-secretase inhibitor sensitivity for NOTCH2-SPAG17 fusions in vivo is pending; the prediction is based on fusion structure and not prospectively tested PMID:28783718
Sources
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