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Comparative Lesions Analysis Through a Targeted Sequencing Approach

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Published on: November 5, 2019

Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.

Halima Alnaqbi^1,2, Michael Olbrich¹, Noora Zayed^1,2

¹Center for Biotechnology, Khalifa University, Abu Dhabi, United Arab Emirates.

Scientific Reports

|July 2, 2025

Summary

This summary is machine-generated.

This study used whole exome sequencing to identify genetic variants linked to cancer in the UAE population. Researchers found associations between cancer predisposition and variants in CTBP2, POLQ, and TEKT4 genes.

Keywords:

Cancer Germline Mutations Whole exome sequencing

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Published on: April 11, 2016

Area of Science:

Genomics
Cancer Biology
Population Genetics

Background:

Cancer development involves inherited and acquired mutations.
Middle Eastern cancer genomic research often uses targeted panels, missing broader genetic factors.
Whole exome sequencing (WES) offers an unbiased approach to identify cancer predisposition variants.

Purpose of the Study:

To identify high- and low-penetrance genetic variants associated with cancer predisposition in the United Arab Emirates (UAE) population using WES.
To address the gap in understanding cancer genomics within underrepresented populations.
To investigate the role of genetic variants in hereditary cancer risk.

Main Methods:

Case-control study design comparing 62 cancer patients with 142 healthy controls from the UAE.
Whole exome sequencing (WES) for unbiased identification of genetic variants.
Gene set enrichment analysis to identify associated biological pathways.

Main Results:

Identified potential associations between cancer predisposition and variants in C-terminal Binding Protein 2 (CTBP2), DNA Polymerase Theta (POLQ), and Tektin 4 (TEKT4).
Gene set enrichment analysis revealed enriched pathways in DNA repair and depleted pathways in translation, cellular metabolism, and mitochondrial functions.
Highlighted the influence of distinctive genetic composition in underrepresented groups on pathogenic variant penetrance.

Conclusions:

Genetic variants in CTBP2, POLQ, and TEKT4 may contribute to cancer predisposition in the UAE population.
Distinctive genetic backgrounds in underrepresented groups can alter hereditary cancer risk patterns.
Unbiased genomic approaches like WES are crucial for comprehensive cancer predisposition studies in diverse populations.