Genetic variant discovery could lead to early detection and treatment of aggressive prostate cancer microbiologystudy

QUT scientists have uncovered functionality of a genetic variant in the prostate specific antigen (PSA) gene to improve the current diagnostic test to help distinguish aggressive from non-aggressive prostate cancers and the level of treatment the patient needs.

First author on the QUT-led, multinational study published in Nature Communications, Brisbane’s Translational Research Institute-based Dr. Srilakshmi Srinivasan, from QUT’s School of Biomedical Sciences, said the researchers studied the role of a particular prostate cancer genetic variation or SNP.

“Through comprehensive lab and mice tests we found that this SNP, although associated with reduced prostate cancer risk, is also associated with an aggressive type of this cancer,” Dr. Srinivasan said.

“This SNP contributes to reduced serum prostate-specific antigen (PSA) levels that may lead to detection bias during PSA screening leading to delayed diagnosis and treatment.”

Dr. Srinivasan said the findings gave some insight into anomalies associated with current diagnostics and treatments for what is the second most common cancer in men world-wide.

“The PSA test has long been used as the basis of non-invasive diagnostic and prognostic prostate cancer tests, and it has saved lives,” she said.

“However, the PSA test cannot identify aggressive versus non-aggressive types of cancer, which means some tumors with high PSA in the blood can lead to over-diagnoses with over-treatment.

“This means men often undergo painful procedures such as biopsies for accurate diagnoses, which affects their quality of life and incurs extra health system costs.

“Furthermore, because the PSA test is unable to identify aggressive cancers, tumors which exhibit low levels of PSA in the blood can get missed during early screening, leading to highly aggressive disease with high mortality.”

Professor Jyotsna Batra, who led the study, said the research team was now using the information that men with genetic variations in the gene which codes for PSA could be predisposed to aggressive prostate cancer to develop tools that could be used by GPs to identify high-risk patients, but with low blood PSA levels.

“Findings from this study may lead to developing a novel and simple point-of-care (POC) device,” Professor Batra said.

“It is an important step forward in an era of personalized treatment because it can provide an individualized diagnostic assessment that can be a guide for more appropriate clinical care.”

QUT Distinguished Professor Emeritus Judith Clements, who co-led the research, said, “Our findings might enable better prognostic prediction and, by distinguishing the more aggressive cancers, identify a high-risk group that needs early treatment.”