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Press Release
Genetic variants may affect the risk of breast cancer in women with BRCA2 mutations
Friday, October 29, 2010


DNA image Courtesy of Shutterstock
An international study led by researchers at Memorial Sloan-Kettering Cancer Center has identified genetic variants in women with BRCA2 mutations that may increase or decrease their risk of developing breast cancer. The study was published today online in the open-access journal PLoS Genetics.

The findings of the study suggest that genetic variants on chromosomes 10 and 20 may modify risk for breast cancer among women with a BRCA2 mutation.

Researchers analyzed DNA samples from 6,272 women with BRCA2 mutations in a two-stage genome-wide association study. The chromosome 10 variant identified in the study, near the gene ZNF365, decreased the risk of breast cancer by approximately 25 percent in women also carrying a mutation of the BRCA2 gene. The current study and a recent report published in Nature Genetics found that variants near the same gene, ZNF365, affect breast cancer risk in the general population. While BRCA2 mutations are rare, the ZNF365 variant is more common, seen in one in ten individuals. In addition, researchers found that other variants, including FGFR2, recognized to increase breast cancer risk in the general population, also served as risk modifiers for women with BRCA2 mutations.

"The risk of breast cancer associated with BRCA2 mutations varies widely. Our goal in this study was to test the hypothesis that common genetic variants may modify cancer risk in those already carrying 'high risk' mutations," said the study's senior author, Kenneth Offit, MD, MPH, Chief of the Clinical Genetics Service at Memorial Sloan-Kettering. "It's interesting that our study of BRCA2 and a companion study of BRCA1 both found that women with BRCA mutations likely have the same risk modifiers for breast cancer as women in the general population."

While the authors state that these findings do not have any immediate clinical implications, the discovery of these risk modifiers for women with BRCA2 mutations is important for further research into the role of genetic causes of breast cancer.

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Memorial Sloan-Kettering Cancer Center: http://www.mskcc.org


Thanks to Memorial Sloan-Kettering Cancer Center for this article.

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This press release has been viewed 112 time(s).

Comments

Nikkilina
Washington University School of Medicine
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Fri, Oct 29, 2010, 10:36 am CDT

I like that the authors made sure to note that there were no immediate clinical applications. Yea for not overselling your work!


Will
UC Davis
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Fri, Oct 29, 2010, 3:25 pm CDT

Then why are they making a press release of it!  I really don't understand press releases...


Nikkilina
Washington University School of Medicine
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Fri, Oct 29, 2010, 3:32 pm CDT

Because at this point it's an interesting discovery. They were just responsible enough to ward of some intrepid journalist from going crazy.


Genomic Repairman
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Fri, Oct 29, 2010, 3:40 pm CDT

This may aid in prognostics for breast cancer.  Many patients tumors are molecularly profiled with a commercial test called Oncotype.  It tests everything from BRCA mutations, to her2/neu amplifications/hormone receptor status.


JanedeLartigue
UC Davis
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Fri, Oct 29, 2010, 10:26 pm CDT

I completely understand why they did this study and I appreciate the implications of the work.  My issue is specifically with the fact that it was made into a press release.  Why does this have to be publicized?


Will
UC Davis
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Sat, Oct 30, 2010, 1:01 am CDT

That was my point too Jane!  How do universities decide to release statements about any given research?


labtech2149
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Sun, Oct 31, 2010, 12:16 pm CDT

I agree, it is an interesting artcile and it was good that they published it. Maybe other research labs can take something out of this finding and make more progress to putting it into clinical trials.

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