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BRCA mutation carriers
Her2+ breast cancer
Special populations: African American women
Most estimates of the percentage of breast cancer patients with mutations in BRCA are based on studies of non-Hispanic white women. Researchers have found that the prevalence of BRCA mutations in black women diagnosed at a young age with breast cancer is approximately double that of previously reported estimates in non-Hispanic white women with breast cancer diagnosed in similar age categories. This study underscores the need for health care providers to refer for genetic counseling and testing all black women diagnosed with invasive breast cancer at or before age 50.
Estimating the percentage of black women who carry a BRCA mutation and are diagnosed with invasive breast cancer before age 50.
Breast cancer survival rates differ between non-Hispanic white women and black women. Black women are almost twice as likely to die of breast cancer by age 50 compared to white women. This disparity may be due in part to the stage of cancer at diagnosis and the higher rates of triple negative breast cancer in black women. This study is the largest in the United States to look at how common BRCA mutations are in black women diagnosed with breast cancer at the age of 50 or younger, regardless of family history of breast and/or ovarian cancer.
If you are a black women diagnosed at 50 years of age or younger with invasive breast cancer, it is appropriate to consider BRCA testing, even in the absence of a family history of breast or ovarian cancer.
Oncology Nursing News
There has been very little research in the past that examined how many black women with breast cancer have BRCA mutations. Most previous studies have focused on BRCA testing in non-Hispanic white women. These studies estimated that about 5% of all breast cancer patients have a BRCA mutation. Only three prior studies have looked at population-based BRCA testing in black women in the United States, and those studies did not look for all known mutations in BRCA1 and BRCA2. This population-based study included black women diagnosed with breast cancer at 50 years of age and under, regardless of their family history of cancer. All women were recruited to the study through the Florida Cancer Registry. All women who consented to the study received full gene sequencing and comprehensive rearrangement testing of the BRCA genes at no cost.
What the prevalence of BRCA mutations was in black women diagnosed with invasive breast cancer at a younger age.
396 black women who were diagnosed with invasive breast cancer at 50 years or younger and completed BRCA testing following study consent.
This study had limitations. Because the study was conducted with only young black women in Florida and race was self-reported, this study may not be able to be generalized to young black women in other states. Because family history is not collected by the Florida cancer registry, we have no way to know if family history influenced participation.
Because of the higher frequency of BRCA mutations reported in this and other studies, BRCA testing for young black women diagnosed at a young age with invasive breast cancer is appropriate. As this study found that about 40% of women with a known BRCA mutation did not have a close family history of breast and/or ovarian cancer, a personal history of breast cancer diagnosed at a young age regardless of family history is an indicator for BRCA testing in young black women.
National guidelines recommend that any woman diagnosed with breast cancer before age 50 be referred for genetic counseling. However, guidelines for genetic testing are different, and include women diagnosed with breast cancer at or below age 45, and any woman diagnosed with triple-negative breast cancer at or below age 60. This gap in the guidelines means that women between the ages of 46 and 50 who are diagnosed with breast cancer that is not triple-negative do not qualify for genetic testing based on their personal breast cancer history alone. Because BRCA mutations were identified in more than 7% of this group (black women between 46 and 50 diagnosed with breast cancer that was not triple-negative), the study authors suggest that their research findings make it reasonable to consider testing this group of black women based solely on their personal cancer history.
Pal T, Bonner BS, Cragun D, et al. “A High Frequency of BRCA Mutations in Young Black Women With Breast Cancer Residing in Florida.” Cancer, initially published online August 19, 2015.