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Researchers Discover a Common Variation in a Gene Segment that,Increases the Risk for Prostate Cancer

BETHESDA, Md., April 1, 2007--Researchers report that a variation in a portion of DNA strongly predicts prostate cancer risk and that this common variation may be responsible for up to 20 percent of prostate cancer cases in white men in the United States. The research was conducted by investigators from the National Cancer Institute (NCI), part of the National Institutes of Health, and their partners in the Cancer Genetic Markers of Susceptibility (CGEMS) initiative. CGEMS researchers are scanning the entire human genome to identify common, inherited gene mutations that increase the risks for breast and prostate cancers. The results appear in the May 1, 2007 issue of Nature Genetics and were published online April 1, 2007.

"Discovery of this common variation is very exciting. Building on this finding we may be able to identify men at highest risk for prostate cancer, diagnose the disease earlier, and hopefully prevent it all together. One of the next steps is to understand the mechanism by which this genetic variation exerts its effect on cancer risk," said NCI Director John E. Niederhuber, M.D.

This gene variation was discovered on chromosome 8. Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 8, one inherited from each parent, form one of the pairs. Chromosome 8 spans about 146 million base pairs (the chemicals that comprise DNA), represents about 5 percent of the total DNA in cells, and contains an estimated 700 to 1,100 genes.

The region the CGEMS study identified on chromosome 8 is marked by a number of single nucleotide polymorphisms (SNPs), including rs6983267. SNPs are the most common type of gene variant in which a single unit of DNA may vary from one person to the next. The rs6983267 SNP is located in a segment of DNA that has few known or predicted genes for prostate cancer.

The researchers also confirm that a previous findi
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