RYR1

Overview

RYR1 (Ryanodine Receptor 1) encodes a calcium release channel found in the sarcoplasmic reticulum of skeletal muscle. Germline mutations cause malignant hyperthermia susceptibility and myopathies. Its role in cancer is emerging; it has been identified as preferentially mutated in NSCLC tumors with durable clinical benefit from PD-1 blockade, likely reflecting hypermutator status rather than a direct functional role.

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
  • Germline V2280I missense in neuroblastoma (NBL) — returned as ACMG secondary finding indicating malignant-hyperthermia anesthesia precaution in a pediatric precision-oncology program PMID:28007021

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

This page was processed by crosslinker on 2026-05-14. - PMID:28007021

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