Gene Flaws Raise Breast Cancer Risk in Black Women

Breast Cancer Mutated Gene

Breast Cancer Mutated Gene

A new study into breast cancer and race has determined that gene flaws are surprisingly common in black women with breast cancer. The study was one of the first comprehensive race specific studies into breast cancer. Nearly one-fifth of these women have BRCA mutations, a problem most commonly associated with women of Eastern European descent.

The study goes some way to helping doctors understand why the rates of breast cancer are so high in black women, even at a young age. The good news is that through genetic screening, women may be able to identify their level of risk for breast cancer, and can look at preventative options including hormone blocking medications and breast removal. Actress Angelina Jolie, who is of Eastern European descent, was recently in the news for her decision to remove her breasts, given her family history showing a prevalence of breast cancer.

The leader of the study, Dr. Jane Churpek said they were “surprised by the results” which highlighted the prevalence of the gene flaw in black women. In the past not enough women had been included in genetic studies looking at cancer prevalence so the results from this study are a significant step forward in battling breast cancer.

The results of the study were presented on Monday at the American Society of Clinical Oncology conference. One of the researchers who worked on the research paper was Mary-Claire King who first discovered the gene that gave women a predisposition to breast cancer, gene BRCA1. BRCA1 is the gene carried by Angelina Jolie and gave her a significant increased risk of getting breast cancer, in her case 87% risk of breast cancer and a 54% risk of ovarian cancer. Cancer is prominent in the women in Jolie’s family with a number of her relatives having either or both ovarian and breast cancer.

If a women has the BRCA gene mutation, there is a 50% chance they will pass the gene mutation on to their children. The gene mutation is thought to be responsible for as many as 10% of the cases of breast cancer in the United States every year and are carried by 5% of white people and 12% of Eastern Europeans. Research has to uncover the exact rates in other races but we know from this recent research that it is fairly common in black women.

In the study, 249 black women were tested for all 18 gene mutations that increase breast cancer risk. Gene flaws were found in 22% of participants and most of those (56%) had the BRCA1 or BRCA2 gene mutations.

They were given complete gene sequencing for all 18 known breast cancer risk genes rather than the usual tests that just look for a few specific mutations in BRCA genes.

Gene flaws were found in 56, or 22 percent, of study participants; 46 of them involved BRCA1 or BRCA2 and the rest were less commonly mutated genes.

The research solves an important piece of the puzzle as researchers try to understand why so many black women contract breast cancer at a young age.


  1. Michelle says

    Another major hurdle with getting the BRCA1 and 2 genetic testing is getting insurance to pay for it. The test costs roughly $3,000.00. Most women are not able to pay out of pocket, and insurance companies make patient’s and their doctors jump through hoops to get this test. A couple of things need to happen so that this test is accessible to all women: 1) There should be no company that holds a patent on genes. Right now there is only one company that does this type of testing and they literally have ownership of people’s genes. That’s absurd and needs to be stopped. 2) When a doctor orders this test for a patient, insurance companies need to be required to cover it without doctors having to write letters asking for permission to take care of their patient and provide patients with information so that informed decisions can be made.

    • Pablo Horteg says

      Great comment Michelle. Hopefully that cost will come down as testing becomes more widespread. It’s a two edged sword with genetic testing and insurance companies because in some ways it could be used to save them money (eg. it is cheaper to preemptively treat breast cancer), but the insurance companies might eventually seek to use genetic testing to exclude insurance coverage for some people. Every time I think about the applications for genetic testing I am simultaneously excited and scared!

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