African-American Women Carry Genetic Mutation That Increases Risk of Developing Breast Cancer


The University of Chicago has found that African-American women are at higher risk of developing breast cancer due to an inherited genetic mutation.

As a result of this discovery, doctors will be able to detect potential risks for the family members of cancer patients and possibly detect the disease early or prevent it altogether.

“Our study confirms the importance of screening for mutations in breast cancer susceptibility genes in all African-American breast cancer patients diagnosed by age 45, those with a family history of breast or ovarian cancer, or with triple-negative breast cancer before age 60,” said Jane Churpek, an assistant professor of medicine at the University of Chicago Medicine. “This could identify at-risk family members in time for life-saving interventions and help prevent future cancers for the patients as well.”

The study is the first to evaluate African-American women for all 18 known breast cancer susceptibility genes. It was demonstrated on June 3 at the 2013 Annual Meeting of the American Society of Clinical Oncology in Chicago.

During the presentation, researchers discovered that out of 249 women studied at the university’s cancer risk clinic, 56 of them had inherited at least one damaging mutation that gave them an increased risk of developing breast cancer.

Individuals at a higher risk of obtaining inherited mutations include those who have close family members that have had either breast or ovarian cancer, people who have been diagnosed with triple-negative breast cancer and those who were diagnosed with breast cancer before the age of 45.

“We expected the women in our study to have a higher risk of carrying an inherited mutation that typical breast cancer patients,” Churpek said, “but some of their risk factors-diagnosis by age 45 or triple negative breast cancer also more common among African-American women.”

The longer a diagnosis is delayed, the more dangerous the disease can be. Once diagnosed with breast cancer, the survival rate is much lower for African-American women. It is suggested that insufficient access to screening and care can be a factor, however it is also claimed that differences in cell and tumor biology play a role.

“In every population, but especially among those with greater genetic diversity, we often detect changes in genes that may not yet have been studied clinically,” Churpek said. “Some people question the utility of using gene panels like BROCA, as we don’t always know how to counsel a patient without sufficient data on the clinical consequence of every variant found, but unless we start learning about them now we will never know.”

“What you don’t know can hurt you,” said Olufunmilayo Olopade, the Walter L. Palmer service professor of medicine and human genetics and director of the center for clinical cancer genetics at the University of Chicago. “Women with known BRCA1, BRCA2 or other inherited mutations can lower their risk of dying from breast or ovarian cancer.”

To reduce cancer risk, women have the option of removing healthy ovaries before the age of 40, surgically remove their breasts or take part in a breast-surveillance protocol, which monitors the patients with higher risk.


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