Last updated on April 21, 2014 at 1:20 EDT

deCODE genetics, Together with Academic Collaborators and Illumina, Discovers Genetic Risk Factor for Skin, Prostate and Brain Cancers

September 25, 2011

REYKJAVIK, Iceland, September 25, 2011 /PRNewswire/ –

Scientists at deCODE Genetics and academic collaborators from Iceland,
The Netherlands, Spain, Denmark, Germany, Sweden, the USA, the UK and
Romania today report the discovery of a variant in the sequence of the human
genome associated with risk of developing basal cell carcinoma of the skin
(BCC), as well as prostate cancer and glioma, the most serious form of brain
cancer. The study was done in collaboration with Illumina, Inc., and is
published today in the online edition of Nature Genetics.

Using Illumina sequencing technology, deCODE scientists determined the
sequences of the entire genomes of 457 Icelanders, and identified 16 million
single nucleotide polymorphisms (SNPs). Through a combination of SNP
genotyping and computational techniques utilizing the extensive Icelandic
genealogy, they were able to propagate those 16 million variants into over
40,000 Icelanders for use in this study.

The researchers discovered a single letter variant located in TP53, a
gene known to play a central role in tumor biology and for accumulating so
called somatic mutations, during the development of cancer in patients.
Until now, however, individuals who are born with defective copies of the
gene (germline variants) have been found extremely rarely, only in families
with cancer predisposition syndromes, Li Fraumeni syndrome (LFS) and
Li-Fraumeni-like syndrome (LFL). The variant found in the present study is
an unusual type of mutation that appears to affect the way the gene’s
messenger RNA is processed; the messenger RNA in patients with the mutant
TP53 gene appears to lack proper termination and polyadenylation.

This is the first evidence of a germline variant in TP53 associated with
cancer predisposition beyond LFS and LFL. While the mutations causing LFS
and LFL syndromes are very rare (occuring 1:5,000 to 1:20,000 births), the
variant described in this paper occurs in ~ 1 in 25 individuals in Iceland,
and at comparable frequencies in US and UK populations.

“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.

About deCODE

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 diseases. deCODE also licenses its tests, intellectual property, and
analytical tools to partner organizations. deCODE’s corporate information
can be found at http://www.decode.com with information about our genetic
testing services at http://www.decodehealth.com and http://www.decodeme.com.

        Gisli Arnason
        +354 570 1825

SOURCE DeCODE Genetics Inc

Source: PR Newswire