ERC1

Overview

ERC1 (ELKS/RAB6-interacting/CAST family member 1) encodes a scaffold protein involved in presynaptic active zone organization. In cancer genomics, ERC1 is notable primarily as a fusion partner for RET, with the ERC1-RET fusion arising from chromosomal rearrangement and constitutively activating RET kinase signaling.

Alterations observed in the corpus

  • ERC1-RET fusion observed in an Indian familial young lung cancer (YLC) cohort (Malik et al.); RET rearrangements are enriched in YLC at 9.5% vs 1% in patients >45 years per cBioPortal analysis (Hou et al. 2020) PMID:27346245
  • ERC1-WNK1 fusion independently reported in a Chinese ESCC cohort; ERC1 is among 23 WNK-family fusions detected in the TCGA pan-cancer fusion analysis, mostly showing elevated WNK mRNA without copy-number amplification PMID:29617662.

Cancer types (linked)

Co-occurrence and mutual exclusivity

  • ERC1-RET fusions co-occur in the broader context of RET rearrangements enriched in young lung cancer patients PMID:27346245

Therapeutic relevance

  • RET rearrangements (including ERC1-RET) are targetable; relevant RET inhibitors include selpercatinib and pralsetinib PMID:27346245

Open questions

  • Prevalence of ERC1-RET specifically vs other RET fusion partners in Indian vs non-Indian YLC cohorts is not well defined.

Sources

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