Gene Mutations Linked to Breast Cancer in Black Women

Doctors have known for a decade that women with certain genetic mutations are at higher risk of breast cancer, and Jewish women of Eastern European descent are especially likely to have these mutations.

Now, a new study has found that black women also have a high rate of mutations in the BRCA1 and BRCA2 genes, but of a different type.

While information about Eastern European (Ashkenazi) Jews has grown, "there really is a paucity of data in the other minority communities, especially African-Americans," said Dr. Olufunmilayo Olopade. She is lead author of the new study and a professor of medicine and human genetics at the University of Chicago Medical Center.

"Given that African-Americans are more likely to get breast cancer at a young age, it really becomes even more important for us to do a better job of risk assessment," Olopade said.

The study findings appear in the Oct. 18 issue of the Journal of the American Medical Association.

The researchers primarily evaluated people who came to the University of Chicago Cancer Risk Clinic between February 1992 and May 2003. They also evaluated families who visited other high-risk clinics, including those in Chicago and San Francisco.

The families had two or more cases of breast cancer, ovarian cancer, or both among first- and second-degree relatives.

Women with BRCA1 or BRCA2 mutations are three to seven times more likely to get breast cancer than those without the mutations, according to the National Cancer Institute.

The "mutation spectrum" was different between families of European and African descent, the researchers found. Compared with non-Jewish, non-Hispanic whites, women of African descent had a lower rate of one type of BRCA1 and BRCA2 mutations, called deleterious, but a higher rate of another type, called sequence variations.

In all, 28 percent of the black women tested positive for a deleterious mutation in one of the two genes, Olopade said, compared to 46 percent of non-Hispanic, non-Jewish whites. But 44 percent of the black women had sequence variation mutations, compared to 11.5 percent of the non-Jewish, non-Hispanic families.

The deleterious mutations were highest, at 69 percent, in the Eastern European Jewish families. A total of 155 families were studied, the researchers said.

"High-risk African-American women (with a family history of breast or ovarian cancer) may benefit from genetic testing," Olopade said.

"This is the first paper to show that the spectrum of mutations reflects ancestry," Olopade said. "The study is the first to compare African-American women with women of European descent. What we find is, if they have the same family history, when you test them they are likely to have the mutation."

More study is needed on other racial and ethnic populations, she said, including Asians and Hispanics.

The key point for black women, she said, is: "If you have a family history of breast cancer, go to a doctor and demand genetic counseling and testing."

What the study seems to show is that "there are sequence variations related to BRCA1 and BRCA2 that are related to breast cancer in African-American women," said David Nerenz, acting director of the Center for Health Services Research at the Henry Ford Health System in Detroit.

The implication is that testing for mutations would prove as effective in blacks as in whites, he added.

But, Nerenz said, the study begs more questions.

"We don't know whether large-scale applications of genetic testing for susceptibility for breast cancer will save lives, and we don't know whether it will be cost-effective if it does save lives," he said. "We don't know this yet for African-American women and for women in general."

More information

To learn more about BRCA1 and BRCA2, visit the National Cancer Institute.

Marital Status Affects Prostate Cancer Treatment Choices

October 18, 2005 08:41:17 PM PST

The study found that single men are less likely than married men to seek radiation re-treatment for pain caused by bone metastasis. The findings were presented Tuesday at the American Society for Therapeutic Radiology and Oncology annual meeting, in Denver.

"Patients often experience a great deal of pain if their cancer spreads to the bone. The pain can be alleviated with radiation treatments, but sometimes the treatment has to be repeated to arrest recurrent pain. This study demonstrates that single men are less likely to seek multiple treatments," study author Dr. Andre Konski, director of clinical research, radiation oncology department at Fox Chase, said in a prepared statement.

This study of men and women with metastases from prostate and breast cancer evaluated outcome differences based on the patients' marital status. The patients were randomly selected to receive either 10 radiation treatments at 3 Gy each or one radiation treatment at 8 Gy.

"The most significant finding was that men without partners did not seek additional radiation treatment for their pain at the same rate as married men, and women who also received only one treatment," Konski said.

The study found no difference in re-treatment rates in single men receiving either 30 Gy or 8 Gy, while married men and single and married women who received 8 Gy were all more likely to seek re-treatment sooner.

"The lower re-treatment rates observed in single men receiving 8 Gy may be because men without partners don't have the same social support as men with partners, and therefore may not seek out additional treatment for their pain," Konski said.

"Clinicians may need to be sensitive to the greater likelihood of negative outcomes in single male patients. Focused strategies, though, will depend on better specification of what aspects of being single are most disadvantageous to men with cancer."

More information

The U.S. National Cancer Institute has more about bone cancer.

Health Tip: When There's an Emergency

October 18, 2005 08:41:17 PM PST

Here's what you should tell them:

• In language your child can understand, explain what constitutes an emergency.
• Tell your child who might come to help -- paramedics, firefighters and police -- and what they might be wearing.
• Have your child memorize important information, such as your home address and phone number.
• Make sure he knows the emergency number for your area.

You can also role play an emergency situation, guiding your child through the following steps:

• Get to a safe place.
• Try to stay calm.
• Dial 911.
• Tell the person who answers what's wrong.
• Don't hang up until the other person hangs up.
• If possible, be in a spot where you can see emergency workers arrive.

Health Tip: Diet Sensibly

October 18, 2005 08:41:17 PM PST

The Moses Taylor Hospital in Pennsylvania offers these tips for accelerating your metabolism.

• Don't starve yourself -- it causes your resting metabolic rate to drop.
• Exercise longer. Only after 30 minutes of intense exercise does your body begin to burn stored fat for energy.
• Choose high-energy exercise, such as walking, biking, cross country skiing, swimming or step aerobics.
• Vary your workout. Try changing your routine every six weeks.
• Eat a good breakfast.
• Avoid alcohol and smoking. Both inhibit the burning of abdominal fat.