SYNE1

Overview

SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1) encodes a giant scaffolding protein of the nuclear envelope that connects the nucleus to the cytoskeleton. Somatic mutations in SYNE1 have been identified in head and neck squamous cell carcinoma (HNSCC) by whole-exome sequencing.

Alterations observed in the corpus

  • Somatic mutations in SYNE1 detected by whole-exome sequencing of 74 HNSCC tumor-normal pairs (Broad cohort) PMID:21798893
  • Mutations in 9.2% (6/65) of TNBC; previously implicated in squamous head and neck cancers PMID:22495314
  • High coding-mutation frequency (12.0%) in the 2,433-tumour METABRIC breast cancer cohort; flagged as a potential false positive due to high background mutation rate — uncertain breast-cancer driver status PMID:27161491.

Cancer types (linked)

  • HNSC: SYNE1 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 SYNE1 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:22495314

This page was processed by wiki-cli on 2026-05-06. - PMID:27161491

This page was processed by wiki-cli on 2026-05-14.