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Study: Testing urine for genetic mutations may detect bladder cancer early

By Jonna Lorenz

March 10 (UPI) -- Identifying genetic mutations in urine could help detect bladder cancer years before symptoms arise, a new study presented Friday at the European Association of Urology annual congress in Milan, Italy, found.

"Diagnosis of bladder cancer relies on expensive and invasive procedures such as cystoscopy, which involves inserting a camera into the bladder," lead researcher Florence Le Calvez-Kelm, from the International Agency for Research on Cancer, said in a news release.

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"Having a simpler urine test that could accurately diagnose and even predict the likelihood of cancer years in advance could help to spot more cancers at an early stage and avoid unnecessary cystoscopies in healthy patients."

Early diagnosis and treatment of bladder cancer is crucial for survival from the disease, which is expected to include more than 82,000 new cases in the United States this year and about 16,700 deaths, according to the American Cancer Society.

Le Calvez-Kelm led investigators in France, Iran and the United States, who examined the UroAmp test, a urine test developed by Convergent Genomics, a company that spun out of the Oregon Health Science University.

Researchers narrowed down the test, which identifies mutations in 60 genes, to create a new one that focuses on mutations in 10 genes.

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According to the study, the new test was used to evaluate urine samples from a 10-year study tracking the health of 50,000 participants in Iran. Urine samples from 29 people who developed bladder cancer during that time were tested along with samples from 98 other participants as controls.

The test accurately predicted bladder cancer up to 12 years before clinical diagnosis in 19, or 66%, of cases. It was more accurate when urine was tested closer to diagnosis, accurately predicting bladder cancer in 86% of participants whose urine was collected within seven years of diagnosis.

The test was 96% accurate among the control group, showing negative results for 94 of 98 of those who didn't develop cancer.

Investigators also tested urine samples from 70 bladder cancer patients taken on the day of diagnosis by colleagues at Massachusetts General Hospital and Ohio State University. Genetic mutations were found in 50, or 71%, of those cases.

"We've clearly identified which are the most important genetic mutations that can significantly increase the risk of cancer developing within 10 years," Le Calvez-Kelm said.

A urine gene test could be used for routine screening of patients at high risk for developing bladder cancer and to reduce unnecessary cystoscopies.

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The study is the latest look at how genetic testing can advance the fight against cancer. In January, investigators at the University of Wisconsin's School of Medicine and Public Health published a study showing that testing blood for bits of genetic material shed from tumors can help detect multiple types of cancer.

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