Women with a family history of breast cancer have a very high risk of developing the disease even if they test negative for two genetic mutations commonly linked to it, researches said Monday at the American Association for Cancer Research’s Seventh Annual International Frontiers in Cancer Prevention Research meeting.

The two genetic mutations involved are BRCA 1 and BRCA2. They may facilitate earlier detection and prevention among high-risk women.

Women with a family history of breast cancer who test negative for these genetic mutations are four times more likely to develop breast cancer compared to other women, translating to roughly a 40 percent lifetime risk of getting the disease, researchers at the University of Toronto led by Steven Narod M.D. said.

Narod holds the Canada Research Chair in breast cancer at the University of Toronto and Women's College Research Institute. He also said the new finding will help doctors counsel these women about their risk of breast cancer.

“Now when we see families such as this, we will be able to offer better advice about their actual risk,” said Narod.

The study followed 1,492 women from 365 families with negative BRCA1 and BRCA2 genetic mutations for a minimum of five years. The women had a family history of either two or more cases of breast cancer among close relatives under the age of 50 or three cases among close relatives at any age.

The researchers compared breast cancer rates of these women with control rates found in local breast cancer registries and discovered they had a 4.3-fold increased risk for breast cancer.

There is still good news in this study: the women involved in the study did not have an increased risk of ovarian cancer like BRCA1- and BRCA2-carriers do.

The findings suggest that additional genes, hormones or other unknown factors, perhaps environmental, may play a significant role in developing breast cancer, Narod said. He also added that for women with a family history of breast cancer who test negative for the two genetic mutations, tamoxifen would be a good option, as well as breast screening MRI. “Our hope is to be able to prevent or pick up on breast cancer early enough to stop patients from dying. We will see what patients decide to do with this advice.”

An estimated 465,000 women died from breast cancer in 2007 worldwide and 1.3 million new cases were diagnosed, according to the American Cancer Society, a nationwide community-based voluntary health organization struggling to eliminate cancer as a main health problem.

The disease kills about 45,000 women each year in the United States. Early detection is the key, and no one knows your body like you do. So, if you think something is wrong, be persistent because the life you save is your own.