SPECC1L
Overview
SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) encodes a cytoskeletal organizing protein implicated in neural-crest cell migration. In cancer genomics, SPECC1L has been identified as recurrently affected by intronic mutations in extra-cranial malignant rhabdoid tumors (MRT) and as a fusion partner of SMARCB1 in deletion-driven rearrangements, with alterations associated with reduced SPECC1L expression and disrupted neural-crest migration programs.
Alterations observed in the corpus
- Intronic mutations in 6/40 extra-cranial MRT cases associated with reduced SPECC1L expression; partner in 4/7 SMARCB1-deletion-driven fusion events; alterations consistent with disrupted neural-crest cell migration PMID:26977886
Cancer types (linked)
- Malignant rhabdoid tumor (MRT): Recurrently affected by intronic mutations (6/40 cases) and chromosomal fusions with SMARCB1 (4/7 deletion-driven fusions); associated with reduced expression PMID:26977886
Co-occurrence and mutual exclusivity
- Intronic SPECC1L mutations co-occur with SMARCB1 biallelic inactivation in most MRT cases PMID:26977886
Therapeutic relevance
- No direct therapeutic relevance established; disrupted neural-crest migration is hypothesis-generating PMID:26977886
Open questions
- Whether intronic SPECC1L mutations represent regulatory disruption or sequencing artifacts in frequently rearranged regions is unresolved PMID:26977886
Sources
This page was processed by crosslinker on 2026-05-14.