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Explain BRCA status difference among sisters?

Page last modified on: August 19, 2008

Question from Winfrey: At age 44 I was diagnosed and treated for invasive breast cancer and my younger sister subsequently was diagnosed at that same age. We both have been tested for the BRCA1 and BRCA2 gene. However, my results were positive for the BRCA2 variant and hers were negative for both. Are there any current studies that would explain this?: Answer —Generosa Grana, M.D., F.A.C.P.: What's not clear from the question is whether you carry a variant in BRCA2 that is sometimes described as a variant of indeterminate significance. Those variants are not well-understood and their contributions to breast cancer are not well-defined. And it is not unusual with family members for one to carry it and one not to carry it. I call these results truly uninformative, and would tell you that other family members need to be considered high-risk and monitored aggressively. You and your sister should stay tuned as more research is ongoing, hoping to unravel other genes that are related to breast cancer, and also to unravel the role that these variants play in breast cancer.

On Wednesday, June 18, 2008 our Ask-the-Expert Online Conference was called Updates from the 2008 ASCO Annual Meeting. Generosa Grana, M.D., F.A.C.P. and Carol Kaplan, M.D. answered your questions about the latest research advances on screening, treatment, side effects, and more.

The materials presented in these conferences do not necessarily reflect the views of breastcancer.org. A qualified healthcare professional should be consulted before using any therapeutic product or regimen discussed. All readers should verify all information and data before employing any therapies described here.

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Generosa Grana, M.D., F.A.C.P. is the director of the Cooper Cancer Institute and heads the division of hematology/medical oncology at Cooper University Hospital.

Carol Kaplan, M.D. is an assistant professor of clinical medicine in the Rena Rowan Breast Center at the Hospital of the University of Pennsylvania. Her work revolves around the clinical care of breast cancer patients, as well as teaching medical students and house staff.

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