SETD1B

Overview

SETD1B encodes a histone lysine methyltransferase. In the corpus, SETD1B mutations are associated with response to PD-1 blockade in dMMR/MSI-H gynecologic cancers, potentially through chromatin remodeling that enhances immune recognition.

Alterations observed in the corpus

  • SETD1B was mutated in 58% of responders vs. 14% of non-responders (P = 0.015) to nivolumab in a phase 2 trial of dMMR/MSI-H gynecologic cancers (n=35 evaluable); mutations were also associated with increased CD8+PD-1+TOX+ T cell infiltration PMID:38653864.

Cancer types (linked)

Co-occurrence and mutual exclusivity

  • SETD1B mutations were observed in the context of dMMR tumors (predominantly MLH1 promoter hypermethylation or somatic MMR gene mutations) PMID:38653864.

Therapeutic relevance

  • SETD1B mutations are a candidate predictive biomarker for PD-1 blockade (nivolumab) response in dMMR gynecologic cancers; requires validation in larger cohorts PMID:38653864.

Open questions

  • Whether SETD1B mutations mediate immunotherapy response through direct chromatin remodeling effects on neoantigen presentation or indirectly through T cell infiltration remains to be determined PMID:38653864.

Sources

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