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deCODE and Radboud Discovery in Bladder Cancer May Link Disease Risk and Somatic Mutations in Tumors

Tuesday, March 30, 2010 Cancer News J E 4
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REYKJAVIK, Iceland and NIJMEGEN, The Netherlands, March 29, 2010 Sequence variants associated with cancer have todate fallen into two distinct categories. Variants in the ordinary, or"germline," sequence of the genome that is passed between generations werelinked to risk of disease, while "somatic" mutations were found in tumorcells as these cells run amok. deCODE genetics and Radboud UniversityNijmegen Medical Centre in the Netherlands today announce a discovery thatappears to bridge this divide. Their scientists, in collaboration with theLeeds Institute of Molecular Medicine, have identified a novel, commonsingle-letter variant (SNP) on chromosome 4p16 that confers risk of urinarybladder cancer, but also confers risk of a somatic mutation in the FGFR3gene, which is known to occur in UBC and to promote the growth of what aremainly low-grade, non-invasive tumors.

"This discovery is exciting because it offers us a truly unique window toa more holistic view of the genetic contribution to the pathogenesis of acommon form of cancer. This is compelling from the point of view oftherapeutic development. About half of all UBC cases are low grade andtreatment is usually successful. But the disease frequently recurs, whichmakes treatment costly and would make a drug that could reduce the need forinvasive procedures a valuable tool for patients and the healthcare system,"said Kari Stefansson, executive chairman and president of research at deCODEand senior author on the paper.

This is the fifth SNP linked to risk of UBC in multiple populations, andthe fourth discovered under the deCODE-Radboud collaboration. The studyanalyzed genotypic data from more than 50,000 patients and controls from adozen countries, and found that those who carry the 'T'version of thechromosome 4 SNP are at approximately 25% greater risk of developing UBC percopy carried than are non-carriers. The 5% of people who are at highest riskfrom this combination of five markers are at approximately 60% greater thanaverage risk of UBC. Since the average lifetime risk of UBC is about 4% formen in the United States, those with the highest risk constellation of thesemarkers would be at a roughly 6.5% risk of the disease. The study, 'Asequence variant at 4p16.3 confers susceptibility to urinary bladder cancer,'is published online today in Nature Genetics and will appear in an upcomingprint edition of the journal.

Urinary bladder cancer is estimated to be the 9th most common cancerworld-wide and the 13th most common cause of death from cancer. Every year,some 70,000 people in the United States are diagnosed with bladder cancer,and more than 14,000 people will die of the disease. Bladder cancer has beenlinked to exposure to various types of toxic substances such as cigarettesmoke and industrial chemicals. Incidence of bladder cancer variesconsiderably between ethnicities, and as the risk factors reported here werediscovered by analysing DNA from groups of European descent, it is our hopethat the publication of these findings will contribute to the swift analysisof the impact of these variants in cohorts of other continental ancestries.

The authors wish to thank those whose participation and effort made thisstudy possible, including cancer registries in Iceland, The Netherlands, theUnited Kingdom, Italy and Belgium. The Icelandic and Dutch portions of thisstudy were funded in part by European commission grants FP6-018827 (POLYGENE)and FP7-MC-IAPP-218071 (CancerGene); other generous support came from a rangeof Dutch and Italian private foundations.

About deCODE

Headquartered in Reykjavik, Iceland, deCODE genetics is a global leaderin analyzing and understanding the human genome. Using its unique expertiseand population resources, deCODE has discovered key genetic risk factors fordozens of common diseases ranging from cardiovascular disease to cancer.deCODE employs its capabilities to develop DNA-based tests and personalgenome scans to better understand individual risk and empower prevention. Italso licenses its tests, intellectual property and analytical tools topartners, and provides comprehensive genotyping, sequencing and data analysisservices to companies and research institutions around the globe. Through itsCLIA- and CAP-certified laboratory deCODE offers DNA-based tests for gaugingrisk and empowering prevention of common diseases, including deCODE T2(TM)for type 2 diabetes; deCODE AF(TM) for atrial fibrillation and stroke; deCODEMI(TM) for heart attack; deCODE ProstateCancer(TM) for prostate cancer;deCODE Glaucoma(TM) for a major type of glaucoma; and deCODE BreastCancer,for the common forms of breast cancer. Through its pioneering personal genomeanalysis service deCODEme(TM), deCODE enables individuals to betterunderstand their risk of dozens of common diseases and to learn about theirancestry and other traits. Visit us on the web at http://www.decode.com; athttp://www.decodediagnostics.com; at http://www.decodeme.com; and on our blogat http://www.decodeyou.com.

About RUNMC

The Radboud University Nijmegen Medical Centre (RUMNC) is a centre foracademic medicine and health care employing more than 8,500 staff andboasting 3,000 students all working together for the future of the healthcare and medical sciences. The RUNMC strives for top quality in its threecore functions: patient care, research and education/training. Theresponsibilities for the three core tasks of the RUNMC are delegated to fiftydepartments. Coordination and organization of education is managed by twoeducational institutes. The coordination and organization of research isdelegated to six research institutes.Contacts: Edward Farmer +354-570-2819 edward.farmer@decode.is Gisli Arnason +354-570-1900 info@decode.is Joke Groeneveld +31-24-361-0625 J.Groeneveld@cs.umcn.nl

SOURCE DeCODE Genetics Inc
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