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Novel gene mutation identified that predisposes to testicular cancer


Researchers at the University Medical Center (UMC) Utrecht, the Netherlands, have identified a novel gene mutation that predisposes to seminoma, the most common form of testicular cancer in young men.
The newly identified mutation, in the LRRC50 gene, can be considered as a new risk factor for testicular cancer and may be useful for screening purposes. The finding was published this week in PLoS Genetics.
In preclinical research in zebrafish, it was found that mutation in the LRRC50 gene predisposes to testicular tumour formation and that zebrafish LRRC50 tumours are similar to human seminoma. These unique findings make zebrafish a useful animal model for human seminoma associated with mutation of the LRRC50 gene. Additional research revealed an increased prevalence of mutations in this specific gene in samples from patients who had family members similarly diagnosed with seminoma.
Rachel Giles, PhD, associate professor at the Department of Nephrology and Hypertension of UMC Utrecht said: “Until recently, there was little information on the genetic components that determine risk factors for human seminoma. Our research has now for the first time identified a gene mutation that can directly be linked to the risk of testicular cancer in young men and may offer the possibility to screen young men from at-risk families for subclinical seminoma. This is important because such tumours can usually be successfully treated if diagnosed on time”.
Sander Basten, PhD, at the Departments of Medical Oncology and Nephrology of UMC Utrecht and first author of the article added: “We now need further research to unravel the apparent diverse molecular functions of the LRRC50 gene product. We need to pinpoint which processes are affected and how deregulated germ cell maturation, differentiation or proliferation can systematically lead to seminoma development”.
Testicular tumours occur relatively frequently, affecting 1 in 500 in Caucasian men. Of this diverse group, the subtype seminoma is most prevalent and is the most common tumour type found in men aged 20-40 years of age. The incidence of seminoma is rising and, as a consequence, better tools are needed for screening at-risk populations as well as more efficient diagnosis.
This publication was a project of UMC Utrecht in collaboration with Duke University Medical Center (Durham NC, USA), Erasmus Medical Center (Rotterdam, the Netherlands) and the Hubrecht Institute (Utrecht, the Netherlands). The project was funded by a Dutch NWO Vidi grant to Prof. Giles and an EU FP7 grant to the SYSCILIA consortium (

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