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Any other gene mutations for breast cancer?

Page last modified on: November 20, 2008
Question from Lmtin: I recently underwent genetic testing for BRCA1 and BRCA2. I have a strong history of breast cancer on my paternal side and was diagnosed Stage II at the age of 40. I was surprised to get negative results and was told that BRCA1 and BRCA2 account for 80% of genetic breast cancers, but the rest, they feel, have not been discovered. Are we any closer to discovering any other gene mutations for breast cancer?
Answers —Nicholas Robert, M.D.: We know that a percentage of women (probably around 10%) have a genetic disposition for developing breast cancer. Although the discovery of BRCA1 and BRCA2 was a great step forward in identifying women who have a genetic disposition, there's a percentage of women with a strong family history that when tested are BRCA-negative. We think that these women do have a gene that's abnormal that we have not identified, the so-called BRCA3. At this point, we aren't aware of any good candidates for the next gene abnormality.
Jennifer Griggs, M.D., M.P.H.: There are quite a few recent papers looking at enzymes that help get rid of toxins that we're exposed to and repair DNA that are not the BRCA genes. That may explain some of the interactions between a genetic makeup and what we're exposed to, including our own diet and other behavior. So for example, some people have one form of an enzyme that means that they benefit from a diet rich in fruits and vegetables. Other people have a different form of an enzyme that basically means that they don't benefit from a diet rich in fruits and vegetables. This is exciting for two reasons. First, it can help make sense of why some studies show a benefit with a plant-based diet and others don't. And even more exciting, it can help us with interventions or measures that can be targeted for people most likely to benefit. So these are genes that can explain the interaction between genes and the environment. Understanding how these genes are inherited is a little more complicated than BRCA1 and BRCA2, but we're getting there. Write your Congressmen for more money to go to research.
Nicholas Robert, M.D.: It's important for people with a strong family history of breast cancer regardless of their BRCA status (or as you just heard, their appetite for fruit and vegetables), that monitoring for these patients has changed dramatically for the good. The role of breast MRI, an expensive diagnostic test, in women with a high risk for developing breast cancer does diagnose earlier cancer than standard mammography. So it's important that women who are concerned about their family history of cancer seek out advice not only about BRCA testing but how to use these newer detection methods.
Jennifer Griggs, M.D., M.P.H.: Many centers are offering digital mammography, which is particularly helpful in places with radiologists that do more than breast imaging, and may increase the accuracies of mammography.

On Wednesday, June 21, 2006, our Ask-the-Expert Online Conference was called Updates from the 2006 ASCO Annual Meeting. Nicholas Robert, M.D. and moderator Jennifer Griggs, M.D., M.P.H. answered your questions about recent advances in breast cancer treatment, updates on breast cancer genetics, information on diet and risk of recurrence, 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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Meet the Experts

Nicholas Robert, M.D.Nicholas Robert, M.D. is a co-chair of the Breast Committee of the U.S. Oncology Research Network and also chairs the Cancer Committee and Research Committee of the Inova Fairfax Hospital's Cancer Center. 

Jennifer Griggs, M.D., M.P.H.Jennifer Griggs, M.D., M.P.H. is a medical oncologist specializing in the treatment of breast cancer, with a a special interest in cancer survivorship, patient-physician communication, and quality of care for women with breast cancer.

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