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BRCA Counseling in the Light of New Findings

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"Every day, the interpretation of genetic tests such as BRCA1 and BRCA2 mutations are evolving, making patient counseling ever more challenging," explains Alan Weinstein, MD, administrative and medical director, Fox Chase Virtua Health Cancer Program at Memorial Hospital. "A recent JAMA dataanalysis study supports suspicions that many oncologists have had - that BRCA1 and 2 mutations are one of many factors that define a woman's lifetime risk of developing breast cancer. And, that within the BRCA spectrum, women are at many different risk levels." The JAMA analysis examined breast cancer incidence rates of first-degree female relatives related to four probands: women with unilateral breast cancer with and without BRCA mutations; and women with bilateral breast cancer, with and without BRCA mutations the population-based family study observes that "BRCA1 or BRCA2 mutation carriers' risk of disease vary substantially due to the presence of additional unknown risk factors for breast cancer. This is more prevalent in the families of women diagnosed at a younger age, and in the families of women with contralateral breast cancer." Dr.Weinstein says: "Clearly, these other factors - genetic and environmental, known and unknown - affect outcomes. The question is: How can we translate these into sound clinical practice?"

In the study, the "risk of breast cancer from age 30 years to age 70 years in carriers ... at the upper 95th percentile of the risk distribution have a risk to age 70 years of 92% ... Carriers at the lower one-fifth percentile have risks similar to the general population risk of breast cancer."

The media and the world of commercial genetic testing hail the benefits of BRCA testing.However, "there needs to be far more education and discussion on explaining the nuances of these complex and experimental test results to patients," concludes Dr. Weinstein.

This Virtua Physician article was last updated: August 22, 2008