Two Novel Genetic Variants Discovered in Breast Cancer

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London scientists say variants most strongly linked to estrogen receptor-positive breast cancer.
London scientists say variants most strongly linked to estrogen receptor-positive breast cancer.

Scientists say they have identified two new genetic variants that are associated with an increased risk of breast cancer. Their findings are published in Human Molecular Genetics.

The two variants apparently affect the KLF4 gene, which is believed to help control the way cells grow and divide, and they are most strongly linked with estrogen receptor-positive breast cancer, the most common form of the disease.

Women with the first genetic variant (rs10816625) are 12 percent more likely to develop breast cancer, and those with the second variant (rs13294895) have a 9 percent increased risk.

The variants increase the risk of estrogen receptor-positive breast cancer by 14 and 11 percent, respectively, the researchers said. The discovery came after the researchers analyzed the DNA of 100,000 women worldwide.

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"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 causes of the disease," study leader Nick Orr, Ph.D., from the Institute of Cancer Research in London, said in an institute news release.

"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."


Orr, Nick, et al. "Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2." Human Molecular Genetics. doi: 10.1093/hmg/ddv035. February 4, 2015.

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