Researchers: Breast cancer gene markers show increased risk of disease

Oxford University researchers say they have pinpointed common traits in genes that mark an increased risk of breast cancer.

Researchers at Oxford University have identified five common genetic variants that are linked to a slightly increased risk of breast cancer, according to the BBC.

The five "spots" bring to 18 the number of genetic clues that link to a slightly higher risk of the disease, which according to the National Cancer Institute kills more than 40,000 women in the United States each year.

"This is a great finding and potentially very good news," says Dr. Kathie-Ann Josephs, assistant professor of surgery at Columbia University School of Medicine. "It will help more women for whom there is a genetic component for breast cancer."

The research, which could lead to targeted screening of women who are at a higher risk to get breast cancer, involved scanning the entire genetic code of some 4,000 British patients with a family history of the disease. Next, the Cambridge-led researchers looked at the DNA of 24,000 more women, some with and some without breast cancer. The researchers located a total of five "spots" on the human genome that are associated with a family history of breast cancer.

"We know for sure that these gene variations are associated with risk," University of Cambridge's Dr. Douglas Easton, the study's lead author, told the BBC. "It is not the whole picture but it will contribute ultimately to genetic profiling of risk."

While the exact causes of breast cancer are still not known, it's believed that 1 in 20 cases may be linked to family history. Having a grandmother who developed breast cancer in her 80s is not as worrisome as having a mother and sisters who got breast cancer before menopause, Josephs says.

It's thought that diet and lifestyle could play a role in the development of some cases.

The women who could be helped by the newly discovered gene variants are those for whom breast cancer runs in the family, Josephs says.

"In some women, we know there may be a genetic link but we can't identify it," she says. "The tests turn out negative because we haven't identified the genes yet. If women are found to be at risk through testing, they can make certain decisions for diminishing their risk. So this new discovery could help a small but a significant number of women."

The research, which appears in Nature Genetics, was funded by Cancer Research UK and is the biggest project of its kind, the BBC reports.

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