INTERNATIONAL CONGRESS OF
CancerGenetics
Investigation of somatic mutations and polymorphisms of the KRAS and NRAS genes in colorectal cancer.'
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Farzaneh Ramezani Hombari ,1,*
1. Shahid Beheshti University of Medical Sciences, Health Park, Hakimieh, Second West Floor (Genomics Laboratory)
- Introduction: Colorectal cancer, also known as colon cancer, is a type of cancer that originates in the large intestine (colon) or rectum. It usually begins as polyps that develop in the lining of the large intestine. The disease affects 1.9 million people worldwide. Symptoms include changes in bowel habits, such as diarrhoea, constipation or a change in stool consistency. The presence of blood in the stool or rectal bleeding is also a symptom. Abdominal pain or discomfort. A feeling of incomplete bowel movement. Unexplained weight loss. Weakness and fatigue are also symptoms. The disease accounts for 3.9% of all deaths, but this varies according to age and health conditions. The disease may also originate from an improper diet and a sedentary lifestyle. Several genes play a role in the development of colorectal cancer. The most common are MLH1, MSH2 and MSH6, which are involved in Lynch syndrome, and APC, which is involved in familial adenomatous polyposis (FAP). Mutations in the KRAS and NRAS genes are also common in colorectal cancer. Similarly, they may play a role in antiviral immunity.
- Methods: Bioinformatics information in this field was found using the NCBI, KEGG and DAVID databases, Gene Card and dbSNP.
- Results: It is predicted that single nucleotide polymorphisms cause the expression of genes such as MSH6 and MLH1, consequently increasing the expression of MLH1 and the risk of colorectal cancer. According to the bioinformatics study of the present project,Previous studies on the signalling pathways of SNP expression in the MLH1 gene also suggest that MSH6 plays an important role in the development of this cancer.
- Conclusion: The analysis suggests that specific single nucleotide polymorphisms in genes such as MLH1 and MSH6 may contribute to the development of colorectal cancer by altering gene expression and disrupting DNA repair mechanisms. Understanding these genetic variations through bioinformatics tools can aid in early detection, risk assessment, and the development of targeted therapies for colorectal cancer
- Keywords: Colorectal cancer MLH1 MSH6 Single nucleotide polymorphisms (SNPs) Bioinformatic
