Publication in Nature Genetics on testicular cancer susceptibility

R.I. Skotheim
R.I. Skotheim
Researchers from Department of Cancer Prevention, Institute for Cancer Research and Centre for Cancer Biomedicine are involved in an international consortium on genetics of testicular germ cell tumours. The testicular cancer consortium, which is directed from National Cancer Institute and University of Pennsylvania, recently published two articles in Nature Genetics (Chung et al., May 2013) and Human Molecular Genetics (Schumacher et al., March 2013) respectively.
Rolf Skotheim (photo) is the site responsible in Oslo, and says that across all types of cancer, testicular cancer is now the type for which known susceptibility genes explain the largest fraction the genetic risk.

In the Nature Genetics paper, the researchers pinned down four novel loci for genetic susceptibility to testicular cancer. Specifically, a meta-analysis was carried out of genome-wide association studies, and replication of the results was done in independent patient cohorts. The article was published in Nature Genetics May 12th, back-to-back with a related article with supporting results. In addition to getting an ”Advance Online” publication the paper was given a dedicated press relase.

The groups of Ragnhild A. Lothe and Rolf Skotheim have for many years investigated the molecular biology of testicular cancer. Last month, two other publications on germ cell cancers were published from their groups. Together with University of Sheffield, a comparison of transcriptomes of embryonal carcinomas of the testis and human embryonal stem cells revealed cancer-specific gene expression patterns in a cancer stem cells context (Alagaratnam et al., Stem Cells and Development, April 2013). Together with Rigshospitalet, Copenhagen, a comprehensive review was published on genetics of germ cell tumour development in testis and the ovary (Kraggerud et al., Endocrine Reviews, April 2013).

The press release from Nature Genetics (May 12 2013):
Genetics: Testicular cancer risk variants
The discovery of 12 new genetic risk variants for testicular cancer is reported in two studies published this week in Nature Genetics.
Testicular germ cell tumor is the most common cancer in young men, with peak incidence among those aged 25 to 34 years.
Katherine Nathanson and colleagues performed a meta-analysis of three genome-wide association studies of testicular germ cell tumor, with follow-up replication testing in six additional sample collections. They identified four new chromosomal regions associated with increased risk of this disease. In a separate study, Clare Turnbull and colleagues performed a meta-analysis of data from a genome-wide association study and a large replication study and identified nine new susceptibility variants for testicular cancer, one of which overlapped with one of the variants identified by Nathanson and colleagues. Several of the risk variants identified in these studies reside near genes important for male germ cell development.


Meta-analysis identifies four new loci associated with testicular germ cell tumor
Chung et al, Nature Genetics (2013)
Published online 12 May 2013

Testicular germ cell tumor susceptibility associated with the UCK2 locus on chromosome 1q23.
Schumacher et al
Hum Mol Genet. 2013 Mar 22.

Rolf I. Skotheim's Genome Biology Group

Regnhild A. Lothe's Molecular Gentics Group

Department of Cancer Prevention

CCB - Centre for Cancer Biomedicine at UiO


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