Young Breast Cancer Patients Have Much Higher BRCA Mutation Than White

Tuya Pal MD Division of Population Sciences Department of Health Outcomes and Behavior Moffitt Cancer Center Tampa, Florida Interview with:
Tuya Pal MD
Division of Population Sciences
Department of Health Outcomes and Behavior
Moffitt Cancer Center
Tampa, Florida


Medical Research: What is the background for this study?

Dr. Pal:  Young Black women bear a disproportionate burden associated with breast cancer incidence and mortality compared to their White counterparts. Given that inherited mutations in the BRCA1 and BRCA2 genes are more common among young breast cancer survivors, we questioned to what extent mutations in these genes might contribute to the racial disparity in breast cancer incidence among young women.

Medical Research: What are the main findings?

Dr. Pal:  Through conducting the largest U.S. based study of BRCA mutation frequency in young black women diagnosed with breast cancer at or below age 50, we discovered they have a much higher BRCA mutation frequency than that previously reported among young white women with breast cancer.  Specifically, of the 396 Black women with breast cancer diagnosed at or below age 50, 12.4% had mutations in either BRCA1 or BRCA2.  Furthermore, over 40 percent of those with a mutation had no close relatives with breast or ovarian cancer, which suggests that family history alone may not identify those at risk for carrying a BRCA mutation. 

Medical Research: What should clinicians and patients take away from your report?

Dr. Pal:  Our results suggest that it may be appropriate to recommend BRCA testing in all black women with invasive breast cancer diagnosed at or below age 50, regardless of family history. This criterion is more simple because knowledge of family history and receptor status is not needed.  Given that prior studies suggest that family history information is often incomplete to determine eligibility for testing, many women who are candidates may not be offered testing.  In fact, there were 118 participants in our study who did not meet current national practice criteria for testing based solely on personal history, of whom BRCA mutations were found in 7.6%.

Medical Research: What recommendations do you have for future research as a result of this study?

Dr. Pal:  It is important to recognize that testing itself does not ensure benefit; the ultimate benefit from genetic testing comes from the uptake of cancer risk management options, including breast cancer screening, as well as preventive mastectomy or oophorectomy.  Furthermore, it is important for those with BRCA mutations to share this information with their close family members so they too can benefit from this information if they so choose.  Thus, future studies that evaluate genetic testing among underserved populations should also address the uptake of cancer risk management options and sharing of test results with family members in order for the full potential of genetic testing for BRCA1 and BRCA2 to be realized.


Pal, T., Bonner, D., Cragun, D., Monteiro, A. N.A., Phelan, C., Servais, L., Kim, J., Narod, S. A., Akbari, M. R. and Vadaparampil, S. T. (2015), A high frequency of BRCA mutations in young black women with breast cancer residing in Florida. Cancer. doi: 10.1002/cncr.29645 is not a forum for the exchange of personal medical information, advice or the promotion of self-destructive behavior (e.g., eating disorders, suicide). While you may freely discuss your troubles, you should not look to the Website for information or advice on such topics. Instead, we recommend that you talk in person with a trusted medical professional.

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