Colorectal Cancer in Saudi Arabia: The Way Forward.

Colorectal cancer is the most common cancer in Saudi males and the second most common cancer in Saudi females with increasing incidence throughout the last four decades. Although the disease incidence is on the rise, still there is no systemic screening for colorectal cancer in the Saudi population. Early onset colorectal cancer is common in the Saudi population and up to 50% in Saudi patients diagnosed at late stages with regional and distal metastasis. Therefore, more efforts are required to control the disease in the Kingdom of Saudi Arabia. In this regard,  systematic work at national level is highly required to make  colorectal cancer screening for population at risk part of the routine primary health care activities. This paper highlights the current situation of colorectal cancer in the Kingdom of Saudi Arabia with relation to incidence, mortality and morbidity in addition to the disease control efforts going on. Finally, some recommendations are provided to strengthen the control program of colorectal cancer.

Identification of Novel Mutations in Colorectal Cancer Patients Using AmpliSeq Comprehensive Cancer Panel.

Biomarker discovery would be an important tool in advancing and utilizing the concept of precision and personalized medicine in the clinic. Discovery of novel variants in local population provides confident targets for developing biomarkers for personalized medicine. We identified the need to generate high-quality sequencing data from local colorectal cancer patients and understand the pattern of occurrence of variants. In this report, we used archived samples from Saudi Arabia and used the AmpliSeq comprehensive cancer panel to identify novel somatic variants. We report a comprehensive analysis of next-generation sequencing results with a coverage of >300X. We identified 466 novel variants which were previously unreported in COSMIC and ICGC databases. We analyzed the genes associated with these variants in terms of their frequency of occurrence, probable pathogenicity, and clinicopathological features. Among pathogenic somatic variants, 174 were identified for the first time in the large intestine. APC, RET, and EGFR genes were most frequently mutated. A higher number of variants were identified in the left colon. Occurrence of variants in ERBB2 was significantly correlated with those of EGFR and ATR genes. Network analyses of the identified genes provide functional perspective of the identified genes and suggest affected pathways and probable biomarker candidates. This report lays the ground work for biomarker discovery and identification of driver gene mutations in local population.