The Genomic Landscape of Colorectal Cancer in the Saudi Arabian Population Using a Comprehensive Genomic Panel

Ebtehal Alsolme, Saleh Alqahtani, Musa Fageeh, Duna Barakeh, Nitesh K. Sharma, Serghei Mangul, Heather A. Robinson, Amany Fathaddin, Charlotte A.E. Hauser, Malak Abedalthagafi*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Purpose: Next-generation sequencing (NGS) technology detects specific mutations that can provide treatment opportunities for colorectal cancer (CRC) patients. Patients and Methods: We analyzed the mutation frequencies of common actionable genes and their association with clinicopathological characteristics and oncologic outcomes using targeted NGS in 107 Saudi Arabian patients without a family history of CRC. Results: Approximately 98% of patients had genetic alterations. Frequent mutations were observed in BRCA2 (79%), CHEK1 (78%), ATM (76%), PMS2 (76%), ATR (74%), and MYCL (73%). The APC gene was not included in the panel. Statistical analysis using the Cox proportional hazards model revealed an unusual positive association between poorly differentiated tumors and survival rates (p = 0.025). Although no significant univariate associations between specific mutations or overall mutation rate and overall survival were found, our preliminary analysis of the molecular markers for CRC in a predominantly Arab population can provide insights into the molecular pathways that play a significant role in the underlying disease progression. Conclusions: These results may help optimize personalized therapy when drugs specific to a patient’s mutation profile have already been developed.

Original languageEnglish (US)
Article number2993
Issue number18
StatePublished - Sep 2023

Bibliographical note

Publisher Copyright:
© 2023 by the authors.


  • BRCA2
  • colorectal cancer
  • KRAS
  • NGS
  • PIK3CA
  • Saudi genome
  • Saudi population
  • somatic mutations

ASJC Scopus subject areas

  • Clinical Biochemistry


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