Only one-third of black women aged 50 years or younger who met national guidelines for genetic testing for breast cancer had been referred for such testing or for genetic counseling, a small study revealed.

Young black women are disproportionately afflicted with breast cancer, some cases of which may be caused by the BRCA1 or BRCA2 gene mutations, explained Tuya Pal, MD, and study coauthors in The Breast Journal (2013;19[2]:189-192). Pal, of the Cancer Epidemiology Program at H. Lee Moffitt Cancer Center & Research Institute in Tampa, Florida, and colleagues evaluated BRCA mutations and explored personal and system-level clinical characteristics in a sample of black women aged 50 years or younger with invasive breast cancer.

The women, who had been recruited through the Florida state cancer registry, completed a questionnaire, genetic counseling, and BRCA testing. Among the 46 women who provided a usable specimen for the genetic testing, the overall prevalence of BRCA mutations was 6.5%. The overall prevalence of variants of uncertain significance (VUS) was 34.8%.

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BRCA mutation prevalence and the high prevalence of VUS found in this study were consistent with the rates demonstrated in earlier studies. However, only 14 of the 34 women who met national guidelines for BRCA testing had been referred for genetic counseling prior to study enrollment.

“A genetic evaluation is important in at-risk women, and is important for decision-making in the presurgical setting for patients due to high risk for second primary breast cancer in those with BRCA mutations,” Pal pointed out in a statement from Moffitt.

Pal’s team found that overall, the women who chose to undergo bilateral mastectomy had a higher number of relatives with breast and ovarian cancers, suggesting that genetic information may be considered by patients and providers when deciding on type of surgery even if the woman had not been referred for genetic counseling and testing. 

Bilateral mastectomy was also more common among women with higher household income. This finding warrants further study, said the investigators.