Genomic Profiling Filtering and Molecular Analysis of Colorectal Cancer (CRC) using Next Generation Sequencing (NGS): Identifying Somatic Mutations Biomarkers and Patterns for Precision Medicine

Methods Illumina 52-gene-focus panel using NGS was used to detect crucial mutations associated with CRC using Formalin-Fixed Paraffin-Embedded (FFPE) tissue among 21 patients. FastQ data was generated and used to analyze somatic variants. Mutation prediction analysis for clinical consequence interpretation was done using In-Silico-Prediction model, and prognostic factors for CRC was done using logistic regression. Results Overall, 105 variants were detected involving 15 genes and 9 chromosomes. Demographics of successful librariescomprises 12(57.1%) males and 9(42.9%) females. The highest variables in the participants were 71% for “severe group” in comorbidity category; 38% for “one type of comorbidity” in number of comorbidities; 57.1% for “retired group” in employment status; 71.4% for “late stage” in tumour level; 66.7% for “stage-3” in TNM stages; 85.7% for “left side” in tumour location; and 76.2% for “moderately-differentiated” in tumour grading. The five most upregulated genes and chromosomes after filtering are [ALK:34.3%(35/105), FGFR4:18.1%(19/105), NRAS:12.3%(13/105), ERBB3:7.8%(8/105), and KRAS, KIT: 4.8%(5/105) apiece] and [4.3%(36/105) for chr2; 20.0%(21/105) for chr5; 17.1%(18/105) for chr1; 12.4%(13/105) for chr12, and 6.7%(7/105) for chr4]. From 105 variants, 21(20%) were “deleterious/probably-damaging” inferring pathologic effects, 10(10%) were “deleterious/probably-benign” meaning with tumourigenesis tendency, 57(54%) were “tolerated/Benign” implying less likelihood of being pathologic, and 17(16%) as “variant unspecified” meaning clinical consequences yet concluded. Lastly, tumour stages, tumour level, Duke staging and “Charlson-comorbid-severity” represent prognostic factors for CRC. Conclusion NGS sequencing provides comprehensive gene mutation profiling in CRC by identifying biomarkers mutation in CRC.