KNSTRN

Gene Summary

Gene:KNSTRN; kinetochore localized astrin/SPAG5 binding protein
Aliases: SKAP, HSD11, C15orf23, TRAF4AF1
Location:15q15.1
Summary:-
Databases:VEGA, OMIM, HGNC, Ensembl, GeneCard, Gene
Protein:small kinetochore-associated protein
Source:NCBIAccessed: 11 March, 2017

Cancer Overview

Lee CS et al, Nat Genet. 2014 found recurrent mutations concentrated at an ultraviolet signature hotspot in KNSTRN, which encodes a kinetochore protein, in 19% of cutaneous squamous cell carcinomas (SCCs). In particular they found that mutations encoding p.Ser24Phe disrupt chromatid cohesion in normal cells, occur in SCC precursors, correlate with increased aneuploidy in primary tumors and enhance tumorigenesis in vivo.

Research Indicators

Publications Per Year (1992-2017)
Graph generated 11 March 2017 using data from PubMed using criteria.

Literature Analysis

Mouse over the terms for more detail; many indicate links which you can click for dedicated pages about the topic.

Tag cloud generated 11 March, 2017 using data from PubMed, MeSH and CancerIndex

Specific Cancers (1)

Data table showing topics related to specific cancers and associated disorders. Scope includes mutations and abnormal protein expression.

Entity Topic PubMed Papers
Skin, Squamous Cell CarcinomaKNSTRN mutations in Cutaneous Squamous Cell Carcinoma
Lee CS et al (2014) reported recurrent mutations concentrated at an ultraviolet signature hotspot in KNSTRN, which encodes a kinetochore protein, in 19% of cutaneous SCCs.
View Publications0

Note: list is not exhaustive. Number of papers are based on searches of PubMed (click on topic title for arbitrary criteria used).

Latest Publications: KNSTRN (cancer-related)

Lee JH, Kim MS, Yoo NJ, Lee SH
Absence of KNSTRN Mutation, a Cutaneous Squamous Carcinoma-Specific Mutation, in Other Solid Tumors and Leukemias.
Pathol Oncol Res. 2016; 22(1):227-8 [PubMed] Related Publications

Jaju PD, Nguyen CB, Nguyen CB, et al.
Mutations in the Kinetochore Gene KNSTRN in Basal Cell Carcinoma.
J Invest Dermatol. 2015; 135(12):3197-200 [PubMed] Free Access to Full Article Related Publications


KNSTRN deemed an oncogene.
Cancer Discov. 2014; 4(11):1247 [PubMed] Related Publications

Lee CS, Bhaduri A, Mah A, et al.
Recurrent point mutations in the kinetochore gene KNSTRN in cutaneous squamous cell carcinoma.
Nat Genet. 2014; 46(10):1060-2 [PubMed] Free Access to Full Article Related Publications
Here we report the discovery of recurrent mutations concentrated at an ultraviolet signature hotspot in KNSTRN, which encodes a kinetochore protein, in 19% of cutaneous squamous cell carcinomas (SCCs). Cancer-associated KNSTRN mutations, most notably those encoding p.Ser24Phe, disrupt chromatid cohesion in normal cells, occur in SCC precursors, correlate with increased aneuploidy in primary tumors and enhance tumorigenesis in vivo. These findings suggest a role for KNSTRN mutagenesis in SCC development.

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Cite this page: Cotterill SJ. KNSTRN, Cancer Genetics Web: http://www.cancer-genetics.org/KNSTRN.htm Accessed:

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