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Novel cilia gene mutation predisposes to common testicular cancer

Researchers have identified a novel gene mutation that links cilia to seminoma, the most common form of testicular cancer in young men.

Researchers at the University Medical Center (UMC) Utrecht (Netherlands), Duke University (USA), and Erasmus Medical Center in Rotterdam (Netherlands), have identified a novel gene mutation that links cilia 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 human seminoma and may be useful for screening purposes. Previous mutations in LRRC50 have been linked to Kartagener’s syndrome, or primary ciliary dyskinesia, a developmental disease caused by the dysfunction of hair-like protrusions of a cell called cilia. The finding was published this week in PLoS Genetics. In preclinical research in zebrafish, it was found that mutation in the LRRC50 gene not only causes cilia dysfunction and polycystic kidney disease, it also predisposes to testicular tumor formation and that zebrafish LRRC50 tumors are similar to human seminoma. These unique findings make zebrafish a useful vertebrate model for human seminoma associated with mutation of the LRRC50 gene. Additional research in human seminoma samples revealed an increased prevalence of mutations in this specific gene, particularly in samples from patients who had family members similarly diagnosed with seminoma. Rachel Giles, 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 seminomas can usually be successfully treated if diagnosed on time. This is an important link between cilia and cancer growth”. Sander Basten, PhD, at the Department of 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 tumors 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 tumor type found in men aged 20-40 years of age. The incidence of seminoma is rising and, as a consequence, we need better tools 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 Dr. Giles and EU FP7 grant no 241955 to the SYSCILIA consortium (


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