Somatic genetic variants associated with aggressiveness of urothelial bladder cancer: a prospective cohort study

Background Bladder cancer risk assessment using single nucleotide variants (SNVs) has focused on Caucasian and Chinese patients, with a significant gap in under-represented South Asian populations. This study examines the association of somatic SNVs with clinicopathological data in a Sri Lankan urothelial bladder cancer (UBC) cohort. Methods DNA was extracted from tumour specimens of 41 patients. Fifty SNVs were genotyped using the Agena platform. Risk association analyses were conducted to identify variants associated with aggressive features (high tumour grade or muscle invasiveness). Results Six variants were linked to tumour aggressiveness. Among them, rs1495741G > A, rs1799964T > C, and rs10775480T > C were associated with tumour aggressiveness. Notably, rs1495741G > A and rs10775480T > C showed alignment with previous literature on germline variants, as their minor allele genotypes were linked to tumour aggressiveness in our cohort. Conclusions This study provides valuable insights into the association between SNVs and aggressiveness of UBC and identifies potential markers for tumour aggressiveness in South Asian populations.