Genetic variants in the mTOR pathway with renal cancer risk and subtypes in East Indian population.

ABSTRACT

INTRODUCTION: Renal Cell Carcinoma (RCC), which accounts for 2%-3% of all adult malignant neoplasms with a male-to-female predominance of 1.9 to 1 with typical presentation between 55 and 75 years. The phosphoinositide-3-kinase-protein kinase B/Akt (PI3KPKB/Akt) pathway is a main pathway in control of cell growth. mTOR pathway plays a key role in the pathogenesis of RCC. MATERIAL AND METHODS: Its a prospective observational study. Tissue samples were collected and processed and DNA isolation and sequencing was done to see for any association and expression. RESULTS AND ANALYSIS: Polymorphism analysis of the sequence of three genes MTOR, AKT1, and PIK3CA done and found an intronic variant of the MTOR gene (rs3737611) and AKT1 gene (rs2498797) to be significantly associated with clear cell Renal Cell Carcinoma tumor samples. DISCUSSION: This study will help to understand the pathogenesis better and the information can be used to develop new drugs and personalized treatment strategies that are tailored to an individual's genetic makeup. The study identify individuals who are at heightened risk for developing renal cancer and could benefit from targeted screening or preventative measures. Some sample size and definite geographical sample pool remains the main limitation of the study which may not be externally validate the study results.