deCODE Discovers Fourth Major Set of Common Genetic Variants Linked to Risk of Estrogen Receptor-Positive Breast Cancer
Published In: Business, Iceland 
Sunday, April 27, 2008 1:00 PM
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REYKJAVIK, Iceland, April 27 /PRNewswire-FirstCall/ -- Scientists from
deCODE genetics (Nasdaq: DCGN) today report the discovery of two common
single-letter variants (SNPs) on chromosome 5 of the human genome that are
associated with risk of estrogen receptor-positive (ER+) breast cancer. More
than 60% of the general population carry at least one copy of the risk variant
of the most important SNP, called rs4415084, and women who have inherited the
variant from both parents are at approximately 50% greater risk of developing
ER+ breast cancer than women who have not inherited the variant. The second
variant is located nearby and occurs only in tandem with the first, adding
slight risk of the disease. Although these variants confer modest risk, they
are so common that they are estimated to account for approximately 11% of
breast cancers overall. The paper, 'Common variants on chromosome 5p12 confer
susceptibility to estrogen receptor-positive breast cancer,' is published
today in the online edition of Nature genetics, at www.nature.com/ng.

With this latest discovery, the genetic factors underpinning a very
significant proportion of inherited risk of ER+ breast cancer have now been
elucidated. Common variants previously discovered by deCODE on chromosomes
2q35 and 16q12 are together involved in an estimated 25% of ER+ breast
cancers. The analysis in today's paper also reveals that a fourth known set of
variants, located on chromosome 10q26 and accounting for approximately 16% of
breast cancers, appear to confer risk exclusively of ER+ tumors. deCODE is
applying these variants as the basis for a DNA-based reference laboratory
risk-assessment test the company plans to launch in the coming months. Such a
test will allow for the identification of women who may benefit from regular
screening with standard as well as new, high-resolution technologies. The
American Cancer Society now recommends that women who are at a 20-50% above-
average risk of breast cancer should consider undergoing annual magnetic-
resonance imaging (MRI) scans as well as mammograms.

"Within the past two years we have identified specific sequence variants
that underlie much of the inherited risk of the common forms of breast cancer,
the most frequently diagnosed cancer in women. And we have now reached a long
awaited tipping point in this progress: the ability to identify, through a
simple genetic test, a large proportion of women who are at a clinically-
meaningful risk of the disease. The rationale for such testing is all the more
compelling in ER+ cancers, since drugs such as tamoxifen have been shown to be
successful in preventing as well as treating these cancers, and other drugs
now in development may prove to be safe as long-term prophylactic therapy as
well. deCODE's pioneering work in this field has also demonstrated that ER+
and ER- breast cancer appear to have distinct genetic bases, a phenomenon
which may open the way to a better understanding of the nature, treatment and
prevention of breast cancer in general. One of the most pressing next steps in
this research is to analyze these results in large cohorts of women of non-
European descent," said Kari Stefansson, CEO of deCODE.

deCODE made today's discovery through the analysis of genotypic data from
a total of nearly 40,000 patients and control subjects from five countries.
The deCODE team analyzed both genome-wide data on some 300,000 SNPs,
supplemented by data on a much smaller number of SNPs on chromosome 5p12.

deCODE gratefully acknowledges the participation of the patients and
researchers who took part in this study.


About Breast Cancer

Breast cancer is the most common cancer and the second leading cause of
cancer deaths among women. Breast cancers are classified as ER+ or ER-
according to whether tumors are found to contain estrogen receptors; in women
of European descent approximately three-quarters are ER+, and in women of
African descent approximately 50% are ER+. An estimated 178,000 cases are
diagnosed in the US every year and over 40,000 deaths will result from breast
cancer. Though a substantial portion of risk of this common disease is clearly
familial, it has taken painstaking research to find genetic variants
predisposing to its common forms. The strongly predisposing mutations in the
BRCA1 and BRCA2 genes have a less than 0.5% frequency in the general
population in the US and Europe. These mutations are estimated to account for
only 1-3% of all breast cancer cases. There is evidence that a substantial
portion of the uncharacterized risk for breast cancer is genetic, and this has
encouraged the search for additional breast cancer predisposition genes.


About deCODE

deCODE is a biopharmaceutical company applying its discoveries in human
genetics to the development of diagnostics and drugs for common diseases.
deCODE is a global leader in gene discovery - our population approach and
resources have enabled us to isolate key genes contributing to major public
health challenges from cardiovascular disease to cancer, genes that are
providing us with drug targets rooted in the basic biology of disease. Through
its CLIA-certified laboratory, deCODE is offering a growing range of DNA-based
tests for gauging risk and empowering prevention of common diseases, including
deCODE T2(TM) for type 2 diabetes; deCODE AF(TM) for atrial fibrillation and
stroke; deCODE MI(TM) for heart attack; and deCODE PrCa(TM) for prostate
cancer. deCODE is delivering on the promise of the new genetics.(SM) Visit us
on the web at www.decode.com; on our diagnostics website at
www.decodediagnostics.com; and, for our pioneering personal genome analysis
service, at www.decodeme.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, uncertainty regarding potential future
deterioration in the market for auction rate securities which could 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.


Contacts:
Edward Farmer Gisli Arnason Joy Bessenger
+1 212 343 2819 +354 570 1825 +1 212 481 3891
edward.farmer@decode.is gisli.arnason@decode.is joy.bessenger@decode.is


SOURCE deCODE genetics


 
Sunday, April 27, 2008 1:00 PM

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