PAPPA2

Overview

PAPPA2 (Pappalysin 2) is a metalloproteinase involved in IGF signaling through cleavage of insulin-like growth factor binding proteins. Its role in cancer genomics is emerging; in NSCLC it has been identified as a gene preferentially mutated in tumors with durable clinical benefit from PD-1 blockade.

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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