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Updated: Apr 24, 2026

Comparative Lesions Analysis Through a Targeted Sequencing Approach
Published on: November 5, 2019
Recurrent point mutations in the kinetochore gene KNSTRN in cutaneous squamous cell carcinoma
Carolyn S Lee1, Aparna Bhaduri1, Angela Mah1
1Program in Epithelial Biology, Stanford University School of Medicine, Stanford, California, USA.
Abstract:
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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