XRN1

Overview

XRN1 (5’-3’ Exoribonuclease 1) encodes a cytoplasmic exoribonuclease involved in mRNA decay, nonsense-mediated mRNA decay (NMD), and RNA processing. In cancer genomics, XRN1 has been flagged as a gene with clustered and damaging somatic mutations in small cell lung cancer (SCLC) by whole-genome sequencing, suggesting a role in this cancer type.

Alterations observed in the corpus

  • Clustered and/or damaging somatic mutations identified (P < 0.05 by clustering analysis) in WGS of 110 SCLC tumours; listed alongside PTGFRN and FMN2 as genes with clustered/damaging mutations PMID:26168399

Cancer types (linked)

  • SCLC: recurrent clustered mutations detected by WGS; biological role in SCLC not functionally validated PMID:26168399

Co-occurrence and mutual exclusivity

Therapeutic relevance

Open questions

  • Functional role of XRN1 mutations in SCLC is undefined; the authors note that functional experiments will be required PMID:26168399

Sources

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