Black Women More Prone to Breast Cancer Gene, Genetic Mutations

First Posted: Jun 03, 2013 12:50 PM EDT
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A new study shows that about 20 percent of black women with breast cancer carry an abnormality on at least one of 18 genes previously linked with breast cancer vulnerability.

Researchers note that these findings could help to lead to an improved risk screening for the disease.

"For many years, we've seen breast cancer take a heavy toll on African-American women, and this study begins to resolve unanswered questions about what's driving these disparities," study lead author Dr. Jane Churpek said in a news release, via U.S. News and World Report, who is an assistant professor of Medicine at the University of Chicago. 

"While larger studies are needed to confirm our results and compare them to other populations, we hope our findings will lead to increased awareness about potentially life-saving genetic screening for African-American women with a personal or family history of early onset or aggressive forms of breast cancer and their relative."

The study's findings stem from an analysis of DNA gathered from nearly 250 black breast cancer patients that searched for abnormalities among 18 breast cancer genes. The findings showed that 22 percent of women had at least one gene abnormality, and most carried at least one genetic mutation.

The study shows that the participants were selected from those referred to the University of Chicago for genetic counseling, and was funded by the U.S. National Institutes of Health, the Breast Cancer Research Foundation and Komen for the Cure.

The findings from the study will be presented Monday at the American Society of Clinical Oncology (ASCO) annual meeting, in Chicago.

In general, about one out of 750,000 American Women carry these harmful mutations, according to The National Cancer Institute, many who lack the necessary funds or proper insurance for treatment, and will forego testing all together.

For instance, according to the institute, up to 40 percent of women with a BRCA mutation will develop ovarian cancer, compared with 1.4 percent of women with a mutation.

"Women who lack insurance or have policies with high deductibles are the most likely to forego testing and preventive care," said Julie Eggert via We News, a PhD and trained advanced practice nurse who provides genetic counseling for patients at Upstate Oncology Associates of St. Francis Hospital in Greenville, S.C.

She added that, "some women must choose between paying for the test and treatments that will enable them to live long enough to raise their children or supporting their children today. Putting food on the table for their kids always takes precedence."

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