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First genetic links to testicular cancer revealed

1 June 2009

Four men in silhouette
The first genetic variants associated with increased risk of testicular cancer have been found in a study part-funded by the Wellcome Trust. The findings are an important step towards developing a targeted screening programme for relatives of men who have had testicular cancer.

The research team, led by scientists at the Institute of Cancer Research, found three common DNA variants on chromosomes 5, 6 and 12 in the genes of men who had developed testicular cancer that were absent in the genes of healthy men.

"The risk conferred by each variant differs, but in one case it is two- to threefold," said Professor Mike Stratton from the Wellcome Trust Sanger Institute and the Institute of Cancer Research, one of the researchers on the study. "The risks also add together to some extent - men who inherit all the risk variants we found are four times more likely than the general population to develop testicular cancer."

"By combining these genetic risks with other known risk factors it may be possible in future to identify men who are at high risk of developing testicular cancer, particularly those who have a brother or father already affected by the disease. This may allow early detection or prevention."

Testicular cancer is the most common form of cancer in men aged between 15 and 44, with about 2000 cases a year in the UK. Incidence has increased almost fourfold in the last 50 years, but the cancer is 99 per cent curable if caught early.

The study, which looked at the genes of 730 men with testicular cancer, has also given researchers a clue to the mechanism by which testicular cancer develops.

The three variants are all located near genes involved in a biochemical pathway key to the survival and development of germ cells that form sperm. Disrupting this pathway may be one way through which cancer can grow.

The researchers are now looking for up to 3000 men to take part in the study to help identify more genetic risk factors.

Image: Friends. Credit: Flickr/Fr.Stephen

Reference

Rapley EA et al. A genome-wide association study of testicular germ cell tumor. Nat Genet 31 May 2009. [Epub ahead of print]

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