MATR3
Overview
MATR3 (Matrin 3) encodes an RNA-binding protein involved in nuclear RNA processing, retention of aberrant mRNAs, and regulation of gene expression. Germline MATR3 mutations are associated with vocal cord and pharyngeal weakness with distal myopathy. Its role in cancer genomics is limited; in the context of endometrial polyps, somatic retrocopy insertion events have been detected.
Alterations observed in the corpus
- Retrocopy insertion at three genomic positions in one endometrial polyp (WGS cohort of 23 polyps); somatic vs. germline status could not be determined as no matched normal was available for this sample PMID:28445112
Cancer types (linked)
- UCEC / Endometrial Polyps: Retrocopy insertion events detected in a single polyp; not recurrent across the cohort; clinical significance in endometrial polyp biology is unknown PMID:28445112
Co-occurrence and mutual exclusivity
- No co-occurrence or exclusivity data reported; the MATR3 event was an isolated finding in one of 23 polyps PMID:28445112
Therapeutic relevance
- No therapeutic relevance for MATR3 alterations in this context.
Open questions
- Whether the MATR3 retrocopy insertions are somatic or germline remains unresolved due to absence of matched normal tissue; functional consequences are unknown PMID:28445112
Sources
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