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Study Links 2 Genetic Variants to Breast Cancer

Researchers used "fine mapping," a technique to identify one-letter differences between women with cancer and women without it to see what genetic variants indicated a higher risk of developing the disease.

According to a statement, a worldwide study has identified two new genetic variants linked with an increased risk of breast cancer. 

The study
According to an article published in the Oxford Journal of Human Molecular Genetics on Feb. 4, 2015, the Institute of Cancer Research in London included 100,000 women worldwide in their search to identify genetic variants that identified individuals with the highest risk of breast cancer. About half of the participants had the disease. Of the women in the study, 86,000 were of European decent, 12,000 Asian and 2,000 of African ancestors. The results were compiled across 130 research teams worldwide, including the University of Cambridge and the London School of Hygiene and Tropical Medicine. The study was funded by several organizations, including the European Union, Breakthrough Breast Cancer and Cancer Research U.K.

The newly-discovered genetic susceptibility biomarkers are specific to estrogen-receptor positive, hormone-dependent breast cancer. This is the most common form of the disease. The variants will help to give clues to how the cancer grows and may allow for better screening methods for women who are at a high risk of developing the disease. 

The varients, labeled rs10816625 and rs13294895​, are said to influence a gene called KLF4. Researchers think they both are involved with cellular division and growth. The study showed that women with the rs10816625 variant had a 12 percent greater risk of having breast cancer. Women with rs13294895 have a 9 percent increased risk of developing the disease. Researchers used a technique called "fine mapping" to identify one-letter differences in the DNA, indicating which women were more susceptible to the disease.

According to Medical News Today, there are now more than 80 known genetic risk factors linked to a higher chance of having breast cancer. 

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