Quantcast

A Milestone in Cancer Genetics: deCODE Discovers First Common Genetic Variants Affecting the Risk of Many Types of Cancer

January 18, 2009

REYKJAVIK, Iceland, Jan. 18 /PRNewswire-FirstCall/ — Scientists at deCODE
genetics (Nasdaq: DCGN) and colleagues from the US and ten European countries
today announced a long-awaited first in cancer research: the discovery of
common single-letter variations in the human genome (SNPs) linked to
susceptibility not of one, but several different types of cancer, including
those of lung, bladder, prostate, skin and cervix.

Over the past two years, deCODE has led a wave of discoveries by
scientists around the world of common SNPs conferring risk of many major types
of cancer. Yet without exception, these SNPs have been linked to cancer of
only one or at most two tissue types or organs. The SNPs published today,
located near each other on chromosome 5p15, may therefore help to tag major
biological mechanisms underlying cancer susceptibility more generally. The
paper, entitled “Sequence variants at the TERT-CLPTM1L locus associate with
many cancer types,” is published today in the online edition of Nature
Genetics at www.nature.com/ng, and will appear in an upcoming print edition of
the journal.

“Today’s findings demonstrate the power of using genetics to advance our
understanding of the biology of cancer and to discover new strategies for
assessing and reducing risk. Our next task is to discover how these SNPs
affect susceptibility. One plausible, but as yet unproven, explanation is that
these variants provide a genetic background that determines how our bodies
respond to environmental risk factors. A thread connecting these different
cancer types is that most have important known environmental risk factors and
all tend to arise in the tissue layers directly exposed to the environment.
One of the SNPs we have discovered is in a gene involved in determining the
length of the telomeres, or the tail ends of chromosomes. Shorter telomeres
have recently been linked to risk of certain cancers, and telomeres are known
to become shorter with the accumulation of environmental insults over time.
These findings may point us towards a means of addressing these risks by
altering our lifestyle or by helping to identify targets for new drugs. We are
integrating the SNPs into deCODEme(TM), and into our deCODEme Cancer Scan(TM)
launched today,” said Kari Stefansson, CEO of deCODE and senior author on the
paper.

deCODE discovered the first variant, a SNP called rs 401681, in its gene
discovery work on basal cell carcinoma (BCC), a common form of skin cancer.
The SNP is in the gene encoding cisplatin resistance related protein 9
(CLPTM1L). Because the region of chromosome 5p15 is of interest in cancer
biology, the deCODE team then tested this SNP for association with 16
different types of cancer in a total of nearly 80,000 cancer patients and
healthy control subjects from Iceland, the Netherlands, Italy, Sweden, Spain,
Germany, Hungary, the United Kingdom, Belgium, Romania, Slovakia and the
United States
. Rs 401681 was found to confer increased risk not only of BCC,
but also cancer of the lung, bladder, prostate and cervix, and was also found
to protect against melanoma. It is of interest here that the risks of cancers
of lung, bladder, prostate and cervix are greater in individuals with shorter
telomeres than long, whereas those with long telomeres are at greater risk of
melanoma. Through a more detailed analysis of this region, another SNP,
rs2736089, was associated with increased risk of BCC and also with risk of
cancer of the lung, bladder and prostate. Rs 2736089 is located in the gene
encoding the human telomerase reverse transcriptase (TERT), which directs the
addition of repeat DNA sequences to the ends of chromosomes. Importantly, the
risk of these different cancers conferred by these two SNPs appears to be
independent.

Acknowledgments

deCODE thanks the many thousands of individuals who participated in this
study, as well as the collaborating researchers and institutions. This study
was funded in part by the European Commission through the POLYGENE (LSHC-CT-
2005-018827) and GENADDICT (LSHM-CT-2004-005166) grants; by the US National
Institutes of Health (R01-DA017932); a research investment grant of the
Radboud University Nijmegen Medical Centre; and through numerous grants to
collaborating institutions.

About deCODE

deCODE is a bio-pharmaceutical company developing drugs and DNA-based
tests to improve the treatment, diagnosis and prevention of common diseases.
Its lead therapeutic programs, which leverage the company’s expertise in
chemistry and structural biology, include DG041, an antiplatelet compound
being developed for the prevention of arterial thrombosis; DG051 and DG031,
compounds targeting the leukotriene pathway for the prevention of heart
attack; and DG071 and a platform for other PDE4 modulators with therapeutic
applications in Alzheimer’s disease and other conditions. deCODE is a global
leader in human genetics, and has identified key variations in the genome
(SNPs) conferring increased risk of major public health challenges from
cardiovascular disease to cancer. Based upon these discoveries deCODE has
brought to market a growing range of DNA-based tests for gauging risk and
empowering prevention of common diseases. Through its CLIA-registered
laboratory, deCODE is offers deCODE T2(TM) for type 2 diabetes; deCODE AF(TM)
for atrial fibrillation and stroke; deCODE MI(TM) for heart attack; deCODE
ProstateCancer(TM) for prostate cancer; deCODE Glaucoma(TM) for a major type
of glaucoma; and deCODE BreastCancer(TM), for the common forms of breast
cancer. deCODE is delivering on the promise of the new genetics(SM). Visit us
on the web at www.decode.com; on our diagnostics site at
www.decodediagnostics.com; for our pioneering personal genome analysis service
and focused disease scans, integrating the genetic variants included in these
tests and those linked to another twenty common diseases, at www.decodeme.com;
and on our blog at www.decodeyou.com.

Any statements contained in this presentation that relate to future plans,
events or performance are forward-looking statements within the meaning of the
Private Securities Litigation Reform Act of 1995. These forward-looking
statements are subject to a number of risks and uncertainties that could cause
actual results, and the timing of events, to differ materially from those
described in the forward-looking statements. These risks and uncertainties
include, among others, those relating to our ability to obtain financing and
to form collaborative relationships, the effect of a potential delisting of
our common stock from The Nasdaq Global Market, uncertainty regarding
potential future deterioration in the market for auction rate securities which
could negatively affect our cash position and result in additional permanent
impairment charges, our ability to develop and market diagnostic products, the
level of third party reimbursement for our products, risks related to
preclinical and clinical development of pharmaceutical products, including the
identification of compounds and the completion of clinical trials, the effect
of government regulation and the regulatory approval processes, market
acceptance, our ability to obtain and protect intellectual property rights for
our products, dependence on collaborative relationships, the effect of
competitive products, industry trends and other risks identified in deCODE’s
filings with the Securities and Exchange Commission, including, without
limitation, the risk factors identified in our most recent Annual Report on
Form 10-K and any updates to those risk factors filed from time to time in our
Quarterly Reports on Form 10-Q or Current Reports on Form 8-K. deCODE
undertakes no obligation to update or alter these forward-looking statements
as a result of new information, future events or otherwise.

SOURCE deCODE genetics


Source: newswire



comments powered by Disqus