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Young black women have higher frequency of BRCA mutations than previously thought
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The prevalence of BRCA mutations among young black women living in Florida appears greater than previously reported for non-Hispanic white women, according to findings from a population-based study.
BRCA testing may thus be appropriate for all young black women with invasive breast cancer, according to the researchers.
Patients with inherited BRCA1 or BRCA2 mutations have an increased risk for developing breast and ovarian cancer, especially at an earlier age. Approximately 5% of women with breast cancer in the U.S. harbor these gene mutations.
Black women aged 50 years or younger are more likely to have aggressive types of breast cancer compared with non-Hispanic white women, although the cause for this disparity remains uncertain.
Tuya Pal, MD, a geneticist and researcher at Moffitt Cancer Center in Tampa, and colleagues sought to assess if BRCA mutations could attribute to the higher rate of aggressive cancer in black women.
The researchers used the Florida Cancer Registry to identify 396 black women with breast cancer aged younger than 50 years (mean age, 42.1 years) who were diagnosed between 2009 and 2012.
Overall, 49 women (12.4%; 95% CI, 9.5-16) harbored a BRCA1 or BRCA2 mutation, including 32 women who harbored BRCA1 mutations only, 15 who harbored BRCA2, and two who harbored both. Eight recurrent mutations accounted for 49% of all pathogenic variants.
Twenty-two percent of women diagnosed when aged 35 years or younger harbored a BRCA1/2 mutation, whereas 8% of women aged 46 to 50 years harbored one of these mutations. Researchers noted the decreasing mutation prevalence with increasing age only appeared associated with BRCA1 mutations, and the overall prevalence of BRCA2 mutations was similar for all ages.
Further, 41% of those with BRCA mutations had no first- or second-degree relative with breast or ovarian cancer, indicating that family history alone may not be a predictor of risk for a BRCA mutation.
“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,” Pal said in a press release.
Pal and colleagues previously reported that only 50% of black women diagnosed with invasive breast cancer were referred to or received genetic counselling or testing (Cragun D, et al. Breast Cancer Res Treat. 2015;doi:10.1007/s10549-015-3374-7).
Susan Vadaparampil
“Overall, our results suggest that there is a great need to improve access to genetic services among high-risk black women,” Deborah Cragun, PhD, a researcher and genetic counselor at Moffitt Cancer Center, said in the release.
These findings may be limited by a possible survival bias among participants due to a lag between diagnosis and recruitment times. Additionally, the data, while relevant to a Florida-based population, may not be generalized for all women in the U.S.
Still, patients identified with BRCA mutations are able to pursue additional screening or preventative surgeries for themselves and their families.
“Women who are identified with a mutation have an opportunity to be proactive about their health through cancer preventive options,” Susan Vadaparampil, PhD, MPH, a behavioral scientist at Moffitt Cancer Center, said in the press release. – by Anthony SanFilippo
Disclosure: The researchers report no relevant financial disclosures.
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