Explain BRCA status difference among sisters?

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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?
Answers - 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.

The Ask-the-Expert Online Conference called Updates From the 2008 ASCO Annual Meeting featured Generosa Grana, M.D., F.A.C.P. and Carol Kaplan, M.D. answering your questions about the latest research advances on screening, treatment, side effects, and more.

Editor's Note: This conference took place in June 2008.

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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