University of Virginia Health System

BRCA1 More Prevalent Among Hispanic and Young Black Women

The gene mutation BRCA1, which is known to increase the risk of breast cancer, is prevalent among Hispanics and young black women with breast cancer, says a report in the Journal of the American Medical Association (JAMA).

"We found that the Hispanic women had a higher prevalence of the harmful BRCA1 mutation than white women, and the highest prevalence was among young African-American women," says study author Esther John, Ph.D., a research scientist at the Northern California Cancer Center.

"The prevalence of the BRCA1 mutation is different in different racial and ethnic groups," explains John.

Susan Modesitt, M.D., Associate Professor of Obstetrics and Gynecology at the University of Virginia Health System, found some of the results to be unexpected.

"I was surprised to see the exceedingly high rate of BRCA mutations in the young African-American patients," Modesitt says. "We do expect a higher rate of mutations in very young women affected by breast cancer, especially in women under 35."

Ashkenazi Jews, Hispanic Connection

The study assessed the prevalence of the BRCA1 mutation among 3,181 women with breast cancer.

The researchers found that Ashkenazi Jewish women with breast cancer had the highest rate of the BRCA1 mutation (8.3 percent).

For Hispanic women with breast cancer, the rate was 3.5 percent. Among non-Hispanic Caucasians, the rate was 2.2 percent, and among Asian women it was 0.5 percent.

For all black women, the rate of the mutation was 1.3 percent, but for those under 35 who had breast cancer, the rate was 16.7 percent.

Among the surprises in the study was that Hispanic women were more likely to have a particular mutation that is also common in Ashkenazi Jews, notes John. She says that Spanish ancestry may account for this.

The researchers speculate that Sephardic Jews, who settled in Spain, could have shared the mutation with Ashkenazi Jews, who settled in central and Eastern Europe.

The prevalence of the BRCA1 mutation in young black women with breast cancer was also unexpected, since the overall rate of the mutation is low among black women of all ages, says John.

However, this finding could explain why young African-American women tends get an aggressive form of breast cancer, which is consistent with cancers that involve BRCA1 mutations.

Because BRCA1 mutations are rare, John says, not all women need to be tested for mutations.

However, women who have a family history of breast cancer or who are diagnosed as having breast cancer when they are under 35 might want to be tested, she says.

"Women in all ethnic/racial populations would benefit from testing," she says.

UVA's Modesitt recommends three groups of women undergo a risk evaluation to see if they may benefit from genetic testing for the BRCA1 and BRCA2 gene mutations:

• Women younger than 40 who have been diagnosed as having breast cancer
• Women with a family member who has the BRCA1 or BRCA2 gene mutation
• Women from a high-risk family (a family with multiple women from several generations who have had breast or ovarian cancer)

One expert believes the findings in the study mirror what she has been seeing in a diverse urban population of women with breast cancer.

"This study supports what I've been finding in my clinical practice," says Dr. Christine Pellegrino, a breast cancer specialist at Montefiore Medical Center in New York City.

Pellegrino believes in genetic screening for all women who develop breast cancer early.

"There should be a vigorous, well-defined, screening procedure for the female relatives of these women," she says. "There should be widespread use of genetic counseling in these young patients."

Young women with the BRCA1 mutation who have had breast cancer are at risk for a recurrence of their cancer and also of developing ovarian cancer, says Pellegrino.

"These women need to be closely monitored," she adds.

BRCA1 and All Early Breast Cancer Linked

Another expert agrees that many younger women with breast cancer have a genetic mutation, regardless of their ethnic or racial background.

"Whatever your ethnicity or your race, if you have a high-risk profile - that is, early breast cancer - it predicts the likelihood of genetic mutations across all ethnicities and races," says Dr. Jeffrey N. Weitzel of the City of Hope Comprehensive Cancer Center.

However, Weitzel notes that this latest study does not take BRCA2 mutations into account, which also increase the risk for breast cancer.

"So some of these numbers are underestimates," he explains. "BRCA2 usually accounts for about a third more cases in each group."

To read a patient story, get additional information on breast cancer treatment or learn about UVA's Breast Care Program, visit www.uvahealth.com. 

UVA also offers a free, confidential risk assesment through the region's only High Risk Care program to determine if you have a higher-than-normal personal risk of developing breast or ovarian cancer. This free service is particularly encouraged for women with a strong family history of breast or ovarian cancer. To arrange the free screening, call 434-982-0808.

Women can learn more about their unique risks for heart disease - and how to better manage those risks - through Live Red, a new UVA heart-health initiative. You'll learn how heart attack symptoms can be different for women than for men, and you can take an online risk assessment to learn your personal heart disease risk factors.

There, you can sign up for Club Red, our free heart-healthy club for women. Benefits include tips from UVA healthcare providers and a gift package to help you live red in style.

Always consult your physician for more information.