Genomic Alterations of Signaling and DNA Damage Repair Pathways in Non-Muscle Invasive Bladder Cancer

Celik S., Aktas T., Gokbayrak O., Erol A., YÖRÜKOĞLU K., Yilmaz B., ...More

CANCER INVESTIGATION, vol.41, no.10, pp.848-857, 2023 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 41 Issue: 10
  • Publication Date: 2023
  • Doi Number: 10.1080/07357907.2023.2288640
  • Journal Name: CANCER INVESTIGATION
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, CINAHL, EMBASE, MEDLINE, Veterinary Science Database
  • Page Numbers: pp.848-857
  • Keywords: Non-muscle invasive bladder cancer (NMIBC), personalized treatment, BARD1 alteration, PARP4 alteration, tumor mutation burden (TMB)
  • Dokuz Eylül University Affiliated: Yes

Abstract

The aim of the study was to demonstrate the most common genetic alterations and evaluate possible targets involving phosphatidylinositol-3-OH kinase (PIK3)/AKT/mammalian target of rapamycin (mTOR) signaling and DNA damage repair (DDR) pathways for personalized treatment in patients with non-muscle invasive bladder cancer (NMIBC). Alterations of these pathways were observed in 89.5% and 100% of patients, respectively. Among them, BARD1 was more frequently altered in low/intermediate-risk cases, but PARP4 was more frequently affected in intermediate/high-risk patients. The possible target feasibility of BARD1 and PARP4 alterations should be evaluated for personalized treatment using PARP-inhibitors in NMIBC. It is important to detect high tumor mutation burden (TMB) in patients in terms of immunotherapy.