MUC16

Overview

MUC16 (Mucin 16, Cell Surface Associated), also known as CA-125, is a large transmembrane mucin widely used as an ovarian cancer biomarker. Somatic mutations in MUC16 have been observed across multiple tumor types, and in adenoid cystic carcinoma it is enriched in the fusion-negative subclass.

Alterations observed in the corpus

  • Somatic mutations enriched in tumors lacking both MYB and MYBL1 fusions in adenoid cystic carcinoma (ACC), suggesting preferential involvement in the fusion-negative subclass PMID:26631609
  • MUC16 has a high coding-mutation frequency (16.8%) in breast cancer but flagged as having a high background mutation rate; uncertain breast-cancer driver status in 2,433-tumor whole-genome/exome sequencing study PMID:27161491

Cancer types (linked)

  • Adenoid cystic carcinoma: somatic mutations enriched in the fusion-negative (MYB/MYBL1-lacking) subclass; NOTCH-pathway context PMID:26631609

Co-occurrence and mutual exclusivity

Therapeutic relevance

Open questions

Sources

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