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October 9, 2025Frontiers in OncologyOpen Access

Whole-exome sequencing in Saudi colorectal cancer patients reveals distinct mutational patterns and population specific pathogenic variants

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Authors

HAHanan E. AlatwiAAAmnah A. AlharbiRMRashid Mir

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Overview

Exploratory study characterizes somatic mutations and signaling pathways in Saudi CRC patients, suggesting unique population-specific variants.

Key Points

  • Distinct mutational profile identified in Saudi colorectal cancer patients, showing significant differences from global datasets.
  • Notable somatic variants found in 23 tumors, with BRCA2 mutations present in 61% of cases.
  • Whole-exome sequencing conducted on tumor DNA from 24 Saudi patients, identifying both novel and recurrent pathogenic variants.
  • Findings highlight the importance of including underrepresented populations in cancer genomics for equitable precision oncology.

Cite This Study

Alatwi et al. (2025) studied this question.

synapsesocial.com/papers/68e79cf2ed88661f66c2e144https://doi.org/10.3389/fonc.2025.1679528
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Comparative molecular analysis of colorectal cancer in Saudi Arabia: distinct genetic alterations and clinical features2026
  2. 2Exome-Wide Association Analysis Identifies Rare Germline Susceptibility Variants in Early-Onset Breast Cancer Among Saudi Women2026
  3. 3Somatic whole exome sequencing of colorectal carcinoma in young patients from sub‐Saharan Africa reveals novel insights2025
  4. 4Somatic Mutation Profiling and Therapeutic Landscape of Breast Cancer in the MENA Region2025
  5. 5Genomic and epigenomic diversity of breast cancer across Western and MENA populations: implications for precision oncology2026