Gene flaws are common in black women with breast cancer

Posted: June 4, 2013 at 6:46 am

CHICAGO - Gene flaws that raise the risk of breast cancer are surprisingly common in black women with the disease, according to the first comprehensive testing in this racial group. The study found that one-fifth of these women have BRCA mutations, a problem usually associated with women of Eastern European Jewish descent but recently highlighted by the plight of Angelina Jolie.

The study may help explain why black women have higher rates of breast cancer at young ages and a worse chance of survival.

Doctors say these patients should be offered genetic counselling and may want to consider more frequent screening and prevention options, which can range from hormone-blocking pills to breast removal, as Jolie chose to do.

"We were surprised at our results," said the study leader, Dr. Jane Churpek, a cancer specialist at the University of Chicago. Too few black women have been included in genetic studies in the past and most have not looked for mutations to the degree this one did, "so we just don't have a good sense" of how much risk there is, she said.

Churpek gave results of the study Monday at an American Society of Clinical Oncology conference in Chicago. The researchers include Mary-Claire King, the University of Washington scientist who discovered the first breast cancer predisposition gene, BRCA1.

Jolie revealed a few weeks ago that she carries a defective BRCA1 gene, giving her up to an 87 per cent risk of developing breast cancer and up to a 54 per cent risk for ovarian cancer. The actress's mother had breast cancer and died of ovarian cancer, and her maternal grandmother also had ovarian cancer. An aunt recently died of breast cancer.

Children of someone with a BRCA mutation have a 50 per cent chance of inheriting it.

In the U.S., about 5 to 10 per cent of breast cancers are thought to be due to bad BRCA genes. Among breast cancer patients, BRCA mutations are carried by 5 per cent of whites and 12 per cent of Eastern European (Ashkenazi) Jews. The rates in other groups are not as well known.

The study involved 249 black breast cancer patients from Chicago area hospitals. Many had breast cancer at a young age, and half had a family history of the disease.

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.

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Gene flaws are common in black women with breast cancer

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