PRDM9

Overview

PRDM9 encodes a histone H3 lysine 4 trimethyltransferase that specifies meiotic recombination hotspot locations. In cancer, PRDM9 mutations have been identified in somatic contexts, with somatic alterations detected in head and neck squamous cell carcinoma (HNSCC).

Alterations observed in the corpus

  • Somatic mutations in PRDM9 detected by whole-exome sequencing of 74 HNSCC tumor-normal pairs (Broad cohort) PMID:21798893
  • Novel somatic mutation in chromatin/methyltransferase regulators identified in Ewing sarcoma WGS discovery cohort PMID:25223734

Cancer types (linked)

  • HNSC: Identified as a somatically mutated gene in HNSCC whole-exome sequencing PMID:21798893

Co-occurrence and mutual exclusivity

Therapeutic relevance

  • No direct therapeutic implications established in the corpus.

Open questions

  • Whether PRDM9 somatic mutations are drivers or passengers in HNSCC requires functional validation.

Sources

This page was processed by entity-page-writer on 2026-05-06. - PMID:25223734

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