Novel KRAS Gene Mutations in Sporadic Colorectal Cancer

摘要: Introduction In this article, we report 7 novel KRAS gene mutations discovered while retrospectively studying the prevalence and pattern of in cancerous tissue obtained from 56 Saudi sporadic colorectal cancer patients Eastern Province. Methods Genomic DNA was extracted formalin-fixed, paraffin-embedded noncancerous tissues. Successful specific PCR products were then bi-directionally sequenced to detect exon 4 Mutector II Detection Kits used for identifying codons 12, 13 61. The functional impact assessed using bioinformatics tools molecular modeling. Results KRAS detected 24 cases (42.85%). Of these, 11 had (19.64%). They harbored 8 different all which except two altered protein amino acid sequence one as revealed by COSMIC database. found be somatic. One mutation is predicted benign. remaining are cause substantial changes structure. Q150X nonsense second truncating reported literature. Conclusions Our discovery that are, so far, unique may attributed environmental factors and/or racial/ethnic variations due genetic differences. Alternatively, it related paucity clinical studies on other than those 13, 61 146. Further testing a large number various ethnicities, particularly beyond most common hotspot alleles exons 2 3 needed assess explore exact prognostic predictive significance well their possible role carcinogenesis.