Short Tandem Repeat (STR) Somatic Mutation in Non-Melanoma Skin Cancer (NMSC): Association with Transcriptomic Profile and Potential Implications for Therapy.

Journal: Cancers
Published Date: May 15, 2025

Abstract

BACKGROUND: Studies on somatic mutations in cancer typically report single-nucleotide variants in coding regions, while mutations in short tandem repeats (STRs) are usually overlooked. Homopolymeric regions, a subset of STRs, are stretches of DNA where only a single nucleotide is repeated multiple times (e.g., AAAAA or TTTTT). Only recently have mutations in such STR regions been seen in colorectal cancer, where microsatellite instability (MSI) is common. In non-melanoma skin cancer (NMSC), MSI is rare. In this study, we focus on somatic mutations in such homopolymeric regions in NMSC and their functional implications.

Authors

  • Muhammad G Kibriya
    Institute for Population and Precision Health (IPPH), University of Chicago, Chicago, IL 60637, USA.
  • Armando Almazan
    Institute for Population and Precision Health (IPPH), University of Chicago, Chicago, IL 60637, USA.
  • Maria Argos
    Department of Environmental Health, School of Public Health, Boston University, Boston, MA 02118, USA.
  • Tariqul Islam
    UChicago Research Bangladesh (URB), University of Chicago, Dhaka 1230, Bangladesh.
  • Christopher R Shea
    Division of Dermatology, Department of Medicine, University of Chicago, Chicago, IL 60637, USA.
  • Habibul Ahsan
    Institute for Population and Precision Health (IPPH), University of Chicago, Chicago, IL 60637, USA.
  • Farzana Jasmine
    Institute for Population and Precision Health (IPPH), University of Chicago, Chicago, IL 60637, USA.

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