Genetic Testing: Families With Breast Cancer (cont.)

Medical Author:

Melissa Conrad Stöppler, MD

Melissa Conrad Stöppler, MD

Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

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Medical Editor:

William C. Shiel Jr., MD, FACP, FACR

William C. Shiel Jr., MD, FACP, FACR

Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

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While Ms. G. is considering these surgery options, she must also decide a variety of issues such as (1) whom she would tell, (2) whether her own children should be tested, and (3) how her health insurance and/or job will be affected. If she does not desire to inform anyone about a positive test and would not consider having surgery, then perhaps she may not want to be tested in the first place. On the other hand, what if the test results for Ms. G. are negative? This may be a relief. However, there is also the frustrating fact that even if a woman has a negative genetic test, she is still at higher risk for breast cancer than the general population due to the risk factor of having multiple family members with breast cancer. Another possibility with genetic testing is that a non-typical alteration in a breast cancer-related gene is detected, the significance of which is unclear.

What about the many women who do not fit the pattern of a genetic breast cancer disorder? How worried should they be?

Although most women who are surveyed think breast cancer is the leading cause of death in women, heart disease is actually the leading cause of death in women. Heart disease kills one out of two women, far in excess of the number of deaths caused by breast cancer. It is important to keep the perspective that most women who have only one family member with breast cancer should actually be more concerned with discussing heart disease prevention with their physicians than breast cancer prevention.

Summary

In conclusion, any woman in Ms. G.'s situation needs to talk to a doctor who is specially educated to counsel high-risk women regarding if and when they should be tested and how to act on the different test result scenarios -- all prior to testing. There is further counseling after testing, whether results are positive or negative. Research is progressing rapidly, with the results of new studies coming out all the time.

REFERENCE:

"BRCA1 and BRCA2: Cancer Risk and Genetic Testing." National Cancer Institute. 29 May 2009.