Mutational Landscape and Environmental Effects in Bladder Cancer

Abstract

Bladder cancer is the most common cancer of the urinary tract. Although nonmuscle-invasive bladder cancers have a good prognosis, muscle-invasive bladder cancers promote metastases and have a poor prognosis. Comprehensive analyses using RNA sequence of clinical tumor samples in bladder cancer have been reported. These reports implicated the candidate genes and pathways that play important roles in carcinogenesis and/or progression of bladder cancer. Further investigations for the function of each mutation are warranted. There is suggestive evidence for several environmental factors as risk factors of bladder cancer. Environmental factors such as cigarette smoking, exposure to chemicals and gases, bladder inflammation due to microbial and parasitic infections, diet, and nutrition could induce several genetic mutations and alter the tumor microenvironment, such as immune cells and fibroblasts. The detailed mechanism of how these environmental factors induce carcinogenesis and/or progression of bladder cancer remains unclear. To identify the relationship between the mutations and the lifestyle could be useful for prevention and treatment of bladder cancer.

A Comprehensive Bioinformatics Analysis of Notch Pathways in Bladder Cancer

“…Suggestive evidence from previous studies revealed that the incidence, mortality, and prognosis of BCa depend on histopathology, race, gender, and molecular and morphological features [ 28 , 29 , 38 , 81 ].…”

Clinical Application of TERT Promoter Mutations in Urothelial Carcinoma

“…Approximately 95% of cases of urothelial carcinoma (UC) are reported in the bladder (UBC: urothelial bladder carcinoma), and upper tract urothelial carcinoma (UTUC) that occurs in the renal pelvis or ureter corresponds to a small subset of UC ( 1 ). UBC is a globally common disease, with the incidence of 570,000 cases and 210,000 deaths reported in 2020 worldwide ( 2 ), and cigarette smoking is thought to be the most important risk factor for UC formation ( 3 ). Additionally, the exposure to aristolochic acid increased the risk of developing UTUC ( 4 ).…”

Toward urinary cell-free DNA-based treatment of urothelial carcinoma: a narrative review

“…Over the last decade, molecular analysis of tumor specimens of UC has revealed details of genetic and epigenetic profiles and the association between molecular profiles and environmental factors. The classification of UC into molecular-based subtypes has facilitated more precisely decided treatment for patients with UC in addition to the prediction of prognosis, therapy resistance, and tumor progression (28)(29)(30)(31)(32)(33)(34)(35).…”