Lin Yuri, Cheng Amy, Solanki Mansi, Su Wendy, Zaki Melody, Tirado Carlos A
University of California Los Angeles, Los Angeles, CA.
The International Circle of Genetics Studies, Los Angeles, CA.
J Assoc Genet Technol. 2022;48(1):4-9.
Urothelial carcinoma (UC) is the most prevalent form of bladder cancer and a significant cause of mortality in the world each year. As molecular genetic techniques improve, researchers and medical professionals are turning toward finding potential biomarkers to diagnose and characterize UC, guide treatment decisions, and use as therapeutic targets. Located on chromosome 11q13.2, the CCND1 gene encodes Cyclin D1, a CDK-regulating protein that plays a critical role in cell cycle progression. Amplification of CCND1 is seen in about 10% of all bladder cancer patients and has been a target of research due to its potential as a prognostic biomarker and a therapeutic target. However, existing literature on CCND1 amplification and Cyclin D1 expression report conflicting information about their clinical significance and association with disease staging, pointing to the need for more research to determine mechanistic pathways. Additionally, while there are currently no approved therapies or drugs that directly target CCND1 or Cyclin D1 in UC, several clinical trials with drugs targeting CDK4/CDK6 in the Cyclin D1 pathway are already underway. This paper aims to provide an update on the amplification of CCND1 in urothelial carcinoma, including an overview of recent research on elucidated pathways, clinical significance, relevant therapies under development, and directions for future research.
