According to a new study published in the journal Clinical Cancer Research, researchers at the University of Colorado Cancer Center in Aurora, Colorado, and the National Cancer Institute have identified genetic alterations that contribute to the development of bladder cancer.
In the study, researchers analyzed the exome of 54 bladder tumors from mostly Caucasian patients. The researchers identified a genetic mutation in the gene BAP1 in 15% of the bladder tumors. The researchers suggest that BAP1 is a tumor suppressor, so tumors with a BAP1 mutation can develop and grow uninhibited. BAP1 mutations have also been known to contribute to breast cancer and other types of cancers.
In addition, researchers identified telomerase reverse transcriptase (TERT) promoter alterations in 69% of bladder tumors examined and KDM6A mutations in 24%. Researchers found that decreased expression of KDM6A increased tumor cell proliferation, growth, and migration.
Researchers suggest that various subtypes of bladder cancer identified should be susceptible to chemotherapy that create DNA damage because many of the tumors were unable to repair DNA due to deficiencies in the BRCA DNA repair pathway.
The story of cancer care seems so simple: find the mutated gene that causes cancer and turn it off or fix it. But rarely does a single gene cause cancer. More often, many genes are altered together to drive the disease. So the challenge becomes sorting out which altered genes are the most to blame in which cancers.
A collaborative study between researchers at the University of Colorado Cancer Center and the National Cancer Institute (NCI) published in the journal Clinical Cancer Research takes an important step toward answering this question in bladder cancer.