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What do test results mean?

Page last modified on: August 26, 2008
Question from Marlina: I tested positive for a mutation in the BRCA1 gene, exon 11, 1323G>T, expected to produce inherited breast cancer phenotype. What does that mean?
Answers —Terri McHugh, M.D.: The mutation that you were found to have inherited has significant lifetime risk for both breast and ovarian cancers.
Carol Cherry, M.S.N., R.N., A.P.R.N., B.C.: I'm sure the genetic counselor could help explain this in more detail, if it wasn't done at the time you received your results.
Terri McHugh, M.D.: Additionally, they will help outline medical management.

On Wednesday, March 19, 2008, our Ask-the-Expert Online Conference was called Breast Cancer Risk and Your Family. Carol Cherry, M.S.N., R.N., A.P.R.N., B.C. and Terri McHugh, M.D. answered your questions about how family genes affect risk, pros and cons of genetic testing, and ways to lower your breast cancer risk.

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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Meet the Experts

Carol Cherry, M.S.N., R.N., A.P.R.N., B.C.Carol Cherry, M.S.N, R.N., A.P.R.N, B.C. is health educator, Research Project Manager, and Cancer Risk Counselor in the Margaret Dyson Family Risk Assessment Program at the Fox Chase Cancer Center in Pennsylvania.

Terri McHugh, M.D. is a medical oncologist/hematologist and director of the Cancer Risk Assessment and Genetics program.

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