Bladder Cancer Genetic Breakthrough Shows Promise


Recent research into bladder cancer has shown a startling result- three quarters of all bladder cancers display mutations in the same gene. The bladder tumours display somatic (physical) mutations in the TERT (telomerase reverse transcriptase) gene, the gene responsible for the protection of DNA, which has also been linked to cellular aging and the development of cancer.

The research, undertaken by the Spanish National Cancer Centre (CNIO) shows conclusively that this gene is the one that is most frequently mutated across all bladder tumours. Led by Francisco X Real, head of epithelial carcinogenesis, the team also featured members from France and Amsterdam. Published in the journal, European Urology, the molecular and genetic research was undertaken in 450 volunteers. All of the volunteers had a recent diagnosis of bladder cancer and were at various stages of disease progression.

The research showed that there was no correlation between the stage of cancer, the quantity of TERT mutations or the patient’s survival outlook which suggests that the mutations occur early on in carcinogenesis.

The product of the TERT gene is a protein, a reverse transcriptase of the telomere complex. This means that it is responsible for increasing the length of the telomeres, which are the protective structures for genetic material located at the end of each of our chromosomes.

The authors of the study have suggested that TERT could be used as a new biomarker for bladder cancer as it can easily be detected in the urine. Further research is also due to start to see if pre-existing TERT-slowing medications may have the ability to slow down the often rapid growth of bladder cancer tumours.

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Image of TERT gene is provided courtesy of CNIO


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