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A new study found that models for assessing breast cancer risk perform only slightly better when they include common inherited genetic variants recently linked to the disease. For now, recommendations for breast cancer screening or treatments that are based on such models will remain unchanged for most women.

Photo of a doctor with a patient.

Recent studies have associated a number of genetic variants, called single-nucleotide polymorphisms (SNPs), with breast cancer risk. Researchers are now investigating the biologic effects of these SNPs to help clarify their roles. Dr. Sholom Wacholder of NIH’s National Cancer Institute (NCI) and colleagues set out to test whether these genetic variants could help improve breast cancer risk models, which estimate a woman’s risk of developing breast cancer.

The researchers combined data from 5 different studies that included over 5,500 breast cancer patients and almost 6,000 women without cancer. The women were predominately white and between the ages of 50 and 79. For each participant, the researchers assembled information on established risk factors and on 10 SNPs recently found to be associated with breast cancer risk.

Next, the investigators examined the performance of the Gail model, the most commonly used breast cancer risk model, for this group of women. The Gail model uses information on a woman’s medical and reproductive history, as well as the history of breast cancer among her close relatives (mother, sisters and children), to provide an estimate of a woman’s risk of developing invasive breast cancer within the next 5 years and over her lifetime.

For additional information see: http://www.nih.gov/researchmatters/march2010/03292010cancer.htm

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