"This mutation is one of a growing number of deCODE discoveries of relatively low frequency sequence variants with large effect," said Kari Stefansson, deCODE's CEO and senior author of the study. "The discovery of such variants is made possible through the breadth and quality of the data that the Icelandic population provides."
Dr. Stefansson emphasized, "We will, together with our collaborators, including Illumina, extend ourselves to turn this discovery into benefit for patients and those at risk of cancer."
BCC is the most common cancer in people of European ancestry. Sun exposure is the primary risk factor for BCC, but genetic predisposition also plays a substantial role. Until now, no mechanistic causal connection between cancers as diverse as BCC, prostate cancer, glioma, and colorectal adenoma was known.
The paper, "A Germline Variant in the TP53 Polyadenylation Signal Confers Cancer Susceptibility" is published online in Nature Genetics at http://www.nature.com/ng and will appear in an upcoming print edition of the journal.
Headquartered in Reykjavik, Iceland, deCODE genetics is a global leader in analyzing and understanding the human genome. Using its unique expertise and population resources, deCODE has discovered genetic risk factors for dozens of common diseases ranging from cardiovascular disease to cancer.
In order to most rapidly realize the value of genetics for human health, deCODE is currently partnering with life sciences companies to accelerate their target discovery, validation, and prioritization efforts, yielding improved patient stratification for clinical trials and essential companion diagnostics. In addition, through its CLIA- and CAP-certified laboratory, deCODE offers DNA-based tests for gauging risk and empowering prevention of common dis
|SOURCE DeCODE Genetics Inc|
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