CTDNEP1

Overview

CTDNEP1 (CTD Nuclear Envelope Phosphatase 1) encodes a serine/threonine phosphatase located at 17p13.3 that regulates nuclear envelope assembly and cell division. In medulloblastoma, CTDNEP1 is a candidate tumor suppressor on chromosome 17p, a region frequently lost through isodicentric chromosome 17q (i17q), the most common somatic copy-number alteration in medulloblastoma. Truncating point mutations, often accompanied by loss of the wild-type allele via i17q, define biallelic inactivation in a subset of Group 3 and Group 4 tumors.

Alterations observed in the corpus

  • CTDNEP1 is mutated by frameshift and splice-site variants in medulloblastoma WES of 92 tumors (Broad cohort), enriched in Group 3; hemizygous inactivation via isodicentric 17q is a frequent co-occurring mechanism PMID:22820256
  • CTDNEP1 truncating alterations are observed in 4/125 medulloblastoma cases (3%) in the ICGC WGS/WES cohort of 76 tumors; in 3 cases the wild-type allele is lost via isodicentric 17q, establishing it as a candidate 17p tumor suppressor PMID:22832583
  • Additional recurrently altered candidate driver in medulloblastoma, stratified across subgroups in oncoprint analyses of the ICGC/CBTTC cohort (n=491) PMID:28726821.

Cancer types (linked)

  • MB (medulloblastoma): Recurrent truncating mutations with concurrent i17q-mediated allelic loss; enriched in Group 3 and Group 4 subgroups across both Broad (92 tumors) and ICGC (76 tumors) WES cohorts PMID:22820256 PMID:22832583

Co-occurrence and mutual exclusivity

  • CTDNEP1 mutations frequently co-occur with isodicentric 17q, consistent with a two-hit tumor suppressor model on chromosome 17p PMID:22832583

Therapeutic relevance

  • CTDNEP1 as a 17p tumor suppressor is relevant for Group 3 and Group 4 medulloblastoma patients; loss has potential implications for nuclear envelope and mitotic checkpoint biology that may inform future therapeutic strategies PMID:22832583

Open questions

  • The functional mechanism by which CTDNEP1 loss promotes medulloblastoma tumorigenesis requires further investigation; its phosphatase substrates in this context are not fully characterized.

Sources

This page was processed by entity-page-writer on 2026-05-06. - PMID:28726821

This page was processed by wiki-cli on 2026-05-15.