USH2A

Overview

USH2A (Usherin) encodes a large extracellular matrix protein involved in cell adhesion; it is best known as a cause of Usher syndrome but has been observed as a recurrently mutated gene in anaplastic thyroid carcinoma.

Alterations observed in the corpus

  • USH2A was identified as a top-5 recurrently mutated gene by SeqSig FDR analysis in anaplastic thyroid carcinoma (ATC); previously described in ATC in independent studies PMID:38412093.
  • USH2A is significantly over-expressed in the undifferentiated nC3 cluster enriched in high-risk neuroblastoma (FDR <0.01, Welch’s t-test), along with progenitor markers BCL11A, NTRK2, and SOX6 in a single-nuclei RNA-seq study (11 tumors, Smart-Seq2). PMID:34493726
  • Mutations in 9.2% (6/65) of triple-negative breast cancers in WGS cohort; gene involved in actin cytoskeletal functions PMID:22495314

Cancer types (linked)

  • THPA — top-5 SeqSig recurrent mutation (FDR-controlled) in ATC PMID:38412093.
  • NBL — over-expressed in undifferentiated nC3 high-risk neuroblastoma cluster, as part of the progenitor gene program shared with the postnatal adrenal hC1 progenitor. PMID:34493726

Co-occurrence and mutual exclusivity

Therapeutic relevance

  • No direct targeted therapy reported in the corpus.

Open questions

  • The functional role of USH2A mutations in ATC pathogenesis (driver vs. passenger) is not resolved in the corpus PMID:38412093.

Sources

This page was processed by entity-page-writer on 2026-04-15. - PMID:22495314

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