Genetic testing identifies increased testicular cancer risk

Genetic testing can identify men who are most at risk from developing testicular cancer, researchers reported last night.

Researchers at The Institute of Cancer Research, London, UK, found that testing for newly identified genetic factors, along with others found in previous studies, could identify those who could benefit from monitoring or preventative treatment.

Writing in Nature Genetics, they describe examining the DNA of 30,000 men, which revealed 19 new genetic changes associated with the disease.

They tested these alongside previously identified genetic factors, which covered 44 genetic markers, and picked out 1% of men at highest risk of the disease.

That cohort of men had a 7% lifetime risk of developing testicular cancer, which is 14 times higher than the 0.5% risk in the general male population.

The Movember Foundation-funded study also uncovered new clues about how risk genes are activated.

The researchers compared DNA from 7,319 men with testicular cancer with that of 23,082 without the disease from three separate studies.

By reading the DNA code of these men, they could identify ‘single letter’ changes in their DNA that increased their risk of developing testicular cancer.

They discovered that many of the gene changes inside cells increase testicular cancer risk by interfering with the way gene activity is controlled.

Study leader Dr Clare Turnbull, senior researcher in Genetics and Epidemiology at the ICR, said: “Our study has almost doubled the number of DNA variations linked to increased risk of developing testicular cancer and advanced our ability to use genetics to predict disease in healthy men.

“Although we are making good headway, there are more genetic changes that affect risk still to be found. Further studies are needed to understand how these genetic changes interact over time to influence the biology of the cell and lead to development of cancer.”

Professor Paul Workman, chief executive of The Institute of Cancer Research, London, said: “As well as picking out men at highest risk of testicular cancer, our new study also looks at the biology of the disease – at what drives cells to become cancerous. This should narrow the search for therapeutic targets and help researchers create new treatments for those men who stop responding to platinum chemotherapy.”

Paul Villanti, director of programmes, the Movember Foundation, said: “This study has made significant progress in identifying men at increased risk of testicular cancer, and sets up pathways to the new treatments that are so desperately needed to save men for whom current treatments are unsuccessful.”

Nature Genetics 12 June 2017

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