SCN8A

Overview

SCN8A (Sodium Voltage-Gated Channel Alpha Subunit 8) encodes a voltage-gated sodium channel expressed primarily in neurons. Gain-of-function mutations cause epileptic encephalopathy. Its role in cancer is not well characterized; it has been identified as preferentially mutated in NSCLC tumors with durable clinical benefit from PD-1 blockade, likely reflecting passenger mutations in hypermutated tumors.

Alterations observed in the corpus

  • Harbored deleterious mutations in ≥4 DCB patients and 0 NDB patients in a pembrolizumab NSCLC cohort; association not corrected for overall mutation burden and requires independent validation PMID:25765070

Cancer types (linked)

Co-occurrence and mutual exclusivity

Therapeutic relevance

Open questions

  • Association with pembrolizumab response is confounded by overall mutation burden elevation in DCB tumors and has not been independently validated PMID:25765070

Sources

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