Two Genetic Variants May Increase Your Risk of Breast Cancer

First Posted: Feb 23, 2015 09:45 AM EST
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Researchers have made some new findings which may help detect breast cancer in women. After a worldwide study of the DNA of 100,000 women, scientists have discovered two new genetic variants associated with an increased risk of breast cancer.

Detecting breast cancer early can help researchers take steps to help women with the disease. In order to get a better glimpse of the genetic basis of breast cancer, the researchers analyzed the DNA of 86,000 women of European, 12,000 women of Asian and 2,000 women of African ancestries. About half of these women had breast cancer.

During this study, researchers looked for one-letter differences in DNA code that were more likely to be found in women with breast cancer than those without the disease. They used a genetic technique called "fine mapping," and focused on a recently identified hotspot for genetic causes of breast cancer on chromosome 9.

In the end, the researchers found that women with one genetic variant, called rs 10816625 were 12 percent more likely to develop breast cancer than those without the disease. In addition, the researchers found that women with another genetic variant, called rs 13294895 were at a 9 percent increased risk.

"Our study zoomed in on an area of our genome that we knew was linked to breast cancer risk, and has identified two new genetic variants that add significantly to our knowledge about the genetic cause of the disease," said Nick Orr, one of the researchers, in a news release. "The variants we identified are specifically associated with the most common, oestrogen receptor positive, form of breast cancer. The more genetic risk factors for breast cancer we discover, of which there are currently more than 80, the more accurately we will be able to predict who is at risk of getting the disease. Ultimately this will be vital for designing preventative strategies against breast cancer."

The findings are published in the journal Human Molecular Genetics.

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