Scientists have discovered a link between certain genetic mutations, the aggressiveness of prostate cancer, risk of developing the disease and poorer survival rates of patients. The gene, called ANO7, could play a vital role in improving diagnosis of prostate cancer patients.

There is currently no clear way to diagnose aggressive prostate cancer at an early-stage. Genetic mutations, such as those revealed in this study, could lead to the development of accurate diagnostic tests that will ultimately mean patients receive the best possible treatment, sooner.

The researchers studied the DNA from over 1,700 prostate cancer patients and a comparable number of healthy men to look for genetic mutations that were associated with the disease. They were particularly interested in studying mutations to the ANO7 gene because their previous research suggested this could be a gene of interest for prostate cancer.

"We found that small genetic changes to the ANO7 gene increase a patient's risk of aggressive prostate cancer. One of the current biggest unmet needs in prostate cancer care is being able to diagnose aggressive cancers at an early stage. Genetic testing for ANO7 could help identify these patients sooner and may bring new opportunities for precision oncology in prostate cancer," says the leading author of the study, Professor Johanna Schleutker from the Institute of Biomedicine of the University of Turku, Finland.

The researchers found one particular genetic mutation that correlated with an increased risk of developing prostate cancer as well as the severity of the disease. They also found a separate mutation that correlated with shorter survival.

Analysis of tissue samples from prostate tumours revealed that mutations to ANO7 were associated with the gene being more active, suggesting that the biological function of ANO7 may play an important role in why these cancers are more aggressive. The function of ANO7 is not fully understood, but further research could lead to new ways to treat the disease.

Although the study involved a large population, it is limited by the fact that it is primarily a Caucasian population from Northern Europe. Further research involving other demographics is needed to validate the findings. The research was published in the International Journal of Cancer. The study was funded by the Worldwide Cancer Research in Britain, the Cancer Foundation, Academy of Finland, Sigrid Jusélius Foundation, and Government research funding granted by Turku University Hospital.

One of the most notable current unmet needs in prostate cancer care is being able to diagnose aggressive cancers at an early stage. Genetic testing for HOXB13-CIP2A could help identify these patients sooner and may bring new opportunities for the early detection and precision oncology in prostate cancer.

"The small changes in both of the genes make it possible for CIP2A to boost the effect of the HOXB13 gene, which results in the highest-ever observed prostate cancer risk. Men who have these two variants simultaneously are 21 times more likely to get prostate cancer and 2.3 times more likely to get the aggressive form of it," says Docent Csilla Sipeky from the University of Turku, also the first author of the paper.

Although the study involved a large population of over 7,000 patients and an equal number of controls, it is limited by the fact that they are primarily Caucasian populations from northern Europe. Further research involving other demographics is needed to validate the findings.

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