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Septin Mutations in Human Cancers
Journal article   Open access   Peer reviewed

Septin Mutations in Human Cancers

Dimitrios Angelis and Elias T Spiliotis
Frontiers in cell and developmental biology, v 4, pp 122-122
2016
PMID: 27882315
url
https://doi.org/10.3389/fcell.2016.00122View
Published, Version of Record (VoR) Open

Abstract

Ras GTPases oncogenes tumor suppressors cancer tumorigenesis missense mutations neoplasia septins
Septins are GTP-binding proteins that are evolutionarily and structurally related to the oncogenes. Septin expression levels are altered in many cancers and new advances point to how abnormal septin expression may contribute to the progression of cancer. In contrast to the GTPases, which are frequently mutated and actively promote tumorigenesis, little is known about the occurrence and role of septin mutations in human cancers. Here, we review septin missense mutations that are currently in the Catalog of Somatic Mutations in Cancer (COSMIC) database. The majority of septin mutations occur in tumors of the large intestine, skin, endometrium and stomach. Over 25% of the annotated mutations in SEPT2, SEPT4, and SEPT9 belong to large intestine tumors. From all septins, SEPT9 and SEPT14 exhibit the highest mutation frequencies in skin, stomach and large intestine cancers. While septin mutations occur with frequencies lower than 3%, recurring mutations in several invariant and highly conserved amino acids are found across different septin paralogs and tumor types. Interestingly, a significant number of these mutations occur in the GTP-binding pocket and septin dimerization interfaces. Future studies may determine how these somatic mutations affect septin structure and function, whether they contribute to the progression of specific cancers and if they could serve as tumor-specific biomarkers.

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Web of Science research areas
Cell Biology
Developmental Biology
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