Black Women Have Higher Frequency of BRCA Mutations Than Previously Reported

Black Women Have Higher Frequency of BRCA Mutations Than Previously Reported

As pointed out in my paper on cancer in minorities which is on the book web site, there are disparities that are not fully explained by access to care  and socioeconomic level  between  non Latino/Hispanic whites and African Americans. Thus science is looking for genetic markers whose presence or absence is know to confer a worse prognosis , similarly to the so called estrogen , progesterone and Her 2 Neu receptor, In this well done study, we see clearly one possible partial explanation of the differences seen in terms of survival and aggressiveness of disease which is that African American Woman have a higher incidence of the BRCA mutations than previously thought.  Dr Kevin Ryan

  • Of the study( African American)  participants, 12.4% had mutations in either BRCA1 or BRCA2, compared to approximately 5% of women with breast cancer in the United States estimated to have mutations in BRCA1 or BRCA2.
  • Over 40% of those with a mutation had no close relatives with breast or ovarian cancer.
  • Health-care providers tend to refer patients for genetic counseling more frequently if the patients have a college education, are 45 years of age or younger, or have triple-negative breast cancer.

Women who have inherited mutations in the BRCA1 or BRCA2 gene are more likely to develop breast cancer or ovarian cancer, especially at a younger age. Approximately 5% of women with breast cancer in the United States have mutations in BRCA1 or BRCA2, based on estimates in non-Hispanic white women.

Moffitt Cancer Center researchers recently conducted the largest United States–based study of BRCA mutation frequency in young black women diagnosed with breast cancer at or below age 50 and discovered they have a much higher BRCA mutation frequency than previously reported among young white women with breast cancer. The findings were published by Pal et al in Cancer.

Much Higher Rates Discovered

Young black women are more likely to have aggressive types of breast cancer compared with non-Hispanic white women, yet the reason for this disparity remains uncertain. To determine the possible causes of this inequality, researchers analyzed the BRCA mutation frequency and family history of 396 black women in Florida who were diagnosed with invasive breast cancer under the age of 50.

They discovered that 12.4% of the participants had mutations in either BRCA1 or BRCA2. Furthermore, over 40% 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.

As personalized medicine becomes more integrated into clinical care, it is becoming increasingly important for physicians to be aware of potential BRCA mutations at the time of diagnosis to be able to recommend the best therapy for their patients. “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,” said Tuya Pal, MD, a clinical geneticist at Moffitt.

Inequality of Screening

However, many minorities do not undergo recommended genetic testing and counseling. According to an earlier report by the same research time (published by Cragun et al in Breast Cancer Research and Treatment), only about half of the black women were referred for or received genetic counseling or testing. They discovered that health-care providers tend to refer patients for genetic counseling more frequently if the patients have a college education, are 45 years of age or younger, and/or have triple-negative breast cancer. Additionally, black patients are more likely to seek genetic services if they receive a physician’s referral, have private health insurance, and/or higher incomes.

“Overall, our results suggest that there is a great need to improve access to genetic services among high-risk black women,” said Deborah Cragun, PhD, researcher and genetic counselor at Moffitt.

From The ASCO Post

Dr. Pal is the corresponding author of the Cancer and Breast Cancer Research and Treatment articles.

This study was supported by grants from Florida Biomedical, the American Cancer Society, the Florida Breast Cancer Foundation, and the National Cancer Institute.

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