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Blood test for testicular cancer a step closer

19 June 2017
Appeared in BioNews 905

Testing for certain genes could identify men with a ten-fold increased risk of testicular cancer, suggests a new study.

Scientists at the Institute of Cancer Research (ICR), London, say the discovery of new risk genes for testicular cancer raises the number of known genes to 44, which the team estimates is a third of the total heritable risk of developing testicular cancer.

'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,' said study leader Dr Clare Turnbull of the ICR.

Around 95 percent of testicular cancer cases begin in the testicular germ cells, which produce sperm, and testicular germ cell tumours (TGCT) are the most common form of cancer in young men. Previous work by Dr Turnbull and colleagues has established that around half the risk of TGCT is inherited.

The researchers performed a GWAS on data from over 30,000 men taken from three separate studies. They compared the genomes of 7319 men with TGCT to 23,082 without the disease, and identified 19 new genes associated with higher risk of testicular cancer. Many of these genes are associated with gene regulation. Using all 19 genes could identify men with a ten-fold risk of testicular cancer.

The team estimate using all 44 known genes associated with increased risk could identify men with a seven percent lifetime risk of developing TGCT – a risk some 14 times higher than that of the general male population.

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

In another study, researchers from the Moffitt Cancer Center and the International TEsticular CAncer Consortium (TECAC) performed a GWAS on combined data from over 3500 testicular cancer patients from five previous studies. They identified eight new genetic markers associated with testicular cancer.

Dr Peter Kanetsky of Moffitt Cancer Center and senior researcher on the study said: 'Our findings substantially increase the number of known susceptibility genes associated with TGCT. This moves the field closer to a comprehensive understanding of the underlying genetic architecture and development of the disease.'

Both studies were published in Nature Genetics.

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