58 EXPLORING CLINICAL PATTERNS AND GENETIC SUSCEPTIBILITY IN BRAIN TUMOUR PATIENTS: AN INSIGHTS OF PRELIMINARY RESEARCH STUDY IN PAKISTAN

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Abstract Brain tumours rank 11th among the most common cancers in Pakistan but their average survival rate is less than 5 years. The exact cause of brain tumour is not well elucidated, however, the common risk factors include exposure to ionising radiation, alcohol/tobacco consumption, obesity and age. Investigations have revealed that the PI3K/AKT signalling pathway is vital in the regulation of distinct cellular processes. The PI3K signalling pathway stimulates various transcription factors which, in turn, regulate expression of different genes involved in cell survival and proliferation. Variations in cell-signalling pathway genes may cause aberrant expression of the pathway leading to tumorigenesis. Therefore, the proposed study aims to analyse single nucleotide polymorphism(s) in the PI3K/AKT pathway gene with susceptibility to brain tumours for which ethical approval was obtained. The study involves recruitment of 60 patients and gender-age matched control subjects. Clinical and socio-economic data, and blood samples of brain tumour patients were collected after obtaining informed consent. Extraction of genomic DNA was carried out using salting out method and primers for respective gene were designed. The targeted DNA fragment was amplified using Tetra- Primer Amplification Mutation Refractory System-Polymerase Chain Reaction (T-ARMS-PCR) and products were validated through gel electrophoresis. The results were analysed through bioinformatics and statistical tools. Survey data analysis of patients revealed 68% cases were males while 32% were females. The mean age for both genders was 38.05 years. The most frequent symptoms included headaches and dizziness, and surgery was observed to be the most preferred treatment method. Glioblastoma was found to be more prevalent as compared to other histological types of brain tumour. A positive association between the homozygous variant (TT) genotype of the targeted SNP with the risk of brain tumours was observed. The homozygous variant (TT) and heterozygous (TC) genotypes were more prevalent among brain tumour patients as compared to control subjects. The current study evaluates clinical characteristics of brain tumour patients in the region and provides preliminary data on the molecular pathology involved in brain tumours. Data from the present study may be used as a basis for future molecular medicine investigations for brain tumour patients.

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