Publication

Exome-Wide Study Reveals Germline Variants Linked to Cancer Risk in UAE

سبتمبر 1, 2025

🧠 Introduction

Cancer risk is shaped not only by acquired mutations but also by inherited genetic factors. While most genomic research has focused on well-studied populations, much less is known about the unique genetic signatures of underrepresented groups. A new study published in Scientific Reports provides insight into how inherited variants influence cancer predisposition in the United Arab Emirates (UAE).

🔍 Research Summary

Researchers conducted a pan-cancer, case-control analysis using whole exome sequencing (WES) on 62 patients with different cancer types and 142 healthy controls. Unlike targeted gene panels, WES enables an unbiased view of the genome, revealing both common and rare genetic variants.

The study identified germline variants in C-terminal Binding Protein 2 (CTBP2), DNA Polymerase Theta (POLQ), and Tektin 4 (TEKT4) that may contribute to cancer susceptibility. Pathway analysis showed enrichment of biological processes related to DNA repair, while processes such as translation, cellular metabolism, and mitochondrial function appeared depleted.

These findings suggest that inherited genetic differences in the UAE population may influence cancer risk in ways distinct from other global cohorts.

🌍 Broader Impact

This research underscores the importance of including diverse populations in genomics studies to ensure precision medicine benefits all communities. By mapping germline mutational landscapes in the UAE, the study supports APMAD’s mission to advance cancer research and inform strategies for prevention, early detection, and personalized care.

📎 Reference 

@article{Alnaqbi2025,
  title = {Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways},
  volume = {15},
  ISSN = {2045-2322},
  url = {http://dx.doi.org/10.1038/s41598-025-05296-3},
  DOI = {10.1038/s41598-025-05296-3},
  number = {1},
  journal = {Scientific Reports},
  publisher = {Springer Science and Business Media LLC},
  author = {Alnaqbi,  Halima and Olbrich,  Michael and Zayed,  Noora and Mousa,  Mira and Azzam,  Sarah and Tirmazy,  Syed Hammad and Alsafar,  Habiba},
  year = {2025},
  month = jul 
}

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