MED13

Overview

MED13 is a subunit of the Mediator complex, a large multiprotein assembly that coordinates transcriptional activation by RNA Polymerase II. MED13 is recruited to WNT-responsive gene targets, linking Mediator activity to WNT signalling output. In medulloblastoma, missense mutations in MED13 have been identified in the WNT subgroup, implicating dysregulated WNT transcriptional programs in tumour development.

Alterations observed in the corpus

  • Missense mutation identified in WNT-subgroup medulloblastoma (PCGP WGS, 37 tumors); MED13 is a Mediator complex subunit that coordinates RNA Pol II activity at WNT target genes PMID:22722829

Cancer types (linked)

  • MB (medulloblastoma): Missense mutation observed in WNT subgroup; co-occurs with CTNNB1 stabilising mutations and other chromatin/transcription factor alterations in this subgroup PMID:22722829

Co-occurrence and mutual exclusivity

  • Mutation observed in WNT-subgroup medulloblastoma alongside CTNNB1, SMARCA4, CREBBP, and TRRAP mutations; Mediator complex components collectively regulate WNT transcriptional output PMID:22722829

Therapeutic relevance

  • No direct therapeutic agent targets MED13 in medulloblastoma; WNT-subgroup tumours have relatively favourable prognosis and may benefit from de-escalated treatment rather than targeted escalation PMID:22722829

Open questions

  • Functional significance of specific MED13 missense mutations in WNT-subgroup medulloblastoma not yet characterised.
  • Whether MED13 mutations cooperate with CTNNB1 stabilisation or represent an alternative WNT-activation mechanism is unknown.

Sources

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