DNA Repair Pathway Alterations in Bladder Cancer
نویسنده
چکیده
Most bladder tumors have complex genomes characterized by a high mutation burden as well as frequent copy number alterations and chromosomal rearrangements. Alterations in DNA repair pathways-including the double-strand break (DSB) and nucleotide excision repair (NER) pathways-are present in bladder tumors and may contribute to genomic instability and drive the tumor phenotype. DNA damaging such as cisplatin, mitomycin C, and radiation are commonly used in the treatment of muscle-invasive or metastatic bladder cancer, and several recent studies have linked specific DNA repair pathway defects with sensitivity to DNA damaging-based therapy. In addition, tumor DNA repair defects have important implications for use of immunotherapy and other targeted agents in bladder cancer. Therefore, efforts to further understand the landscape of DNA repair alterations in bladder cancer will be critical in advancing treatment for bladder cancer. This review summarizes the current understanding of the role of DNA repair pathway alterations in bladder tumor biology and response to therapy.
منابع مشابه
Dysregulated Expression and Sub cellular Localization of Base Excision Repair (BER) Pathway Enzymes in Gallbladder Cancer
Base excision repair (BER) pathway is one of the repair systems that have an impact on the radiotherapy and chemotherapy for the cancer patients. The molecular pathogenesis of gallbladder cancer is not known extensively. In the present study we investigated whether the expression of AP endonuclease 1 (APE1) and DNA polymerase β (DNA pol β), key enzymes of BER pathway has any clinical ...
متن کاملConcurrent alterations in TERT, KDM6A, and the BRCA pathway in bladder cancer.
PURPOSE Genetic analysis of bladder cancer has revealed a number of frequently altered genes, including frequent alterations of the telomerase (TERT) gene promoter, although few altered genes have been functionally evaluated. Our objective is to characterize alterations observed by exome sequencing and sequencing of the TERT promoter, and to examine the functional relevance of histone lysine (K...
متن کاملBiology of Human Tumors Concurrent Alterations in TERT, KDM6A, and the BRCA Pathway in Bladder Cancer
Purpose:Genetic analysis of bladder cancer has revealed a number of frequently altered genes, including frequent alterations of the telomerase (TERT) gene promoter, although few altered genes have been functionally evaluated. Our objective is to characterize alterations observed by exome sequencing and sequencing of the TERT promoter, and to examine the functional relevance of histone lysine (K...
متن کاملA Review of Driver Genetic Alterations in Thyroid Cancers
Thyroid cancer is a frequent endocrine related malignancy with continuous increasing incidence. There has been moving development in understanding its molecular pathogenesis recently mainly through the explanation of the original role of several key signaling pathways and related molecular distributors. Central to these mechanisms are the genetic and epigenetic alterations in these pathways, su...
متن کاملTuryn 14_7
Microsatellite alterations are a common feature of neoplastic cells. Our study aimed to compare the profile of microsatellite DNA alterations in tumor tissue and urine sediment at 12 selected microsatellite loci in transitional cell carcinoma of the bladder, and to determine which of the 12 markers or combination of markers has potential for the noninvasive diagnosis of bladder cancer. DNA alte...
متن کامل