March 27, 2008
Jewish women change their destinies by testing for genetic mutation
Combating breast cancer -- before it hits
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The good news is that knowledge about how the mutation causes cancer is opening scientific doors to more effective, targeted treatment for those already diagnosed. And people who have the genetic mutation can take preventative measures to drastically reduce their breast and ovarian cancer risk.
Surgery -- removal of the breasts and ovaries -- reduces the risk of breast cancer by 90 percent, to well below the 13 percent odds of getting breast cancer in the general population. But less-drastic measures, such as drug therapy, removal of just the ovaries and careful screening to catch and cure the cancer at an early stage, can also save lives. Genetic information also helps women feel empowered to take control of other factors that raise risk, such as smoking, alcohol consumption and obesity.
"The use of genetic information to understand a person's risk for diseases like cancer is clearly reaping huge benefits," said Dr. William Audeh, a medical oncologist with an emphasis on hereditary risk at Cedars-Sinai Medical Center's Samuel Oschin Comprehensive Cancer Institute. "It's gone from being a somewhat frightening piece of information that gave people concerns to a hugely important piece of information that empowers people to either take preventative steps that can save their lives or to accurately target therapy if one develops cancer. There is a general understanding that genetic information for cancer is going to be critical for taking the best care of people."
Knowing she had the genetic mutation sent Taylor, editor of the trade publication, Pool and Spa Magazine, into a tailspin of research and soul-searching. Treatment for DCIS (ductal carcinoma in situ) usually consists of removal of the tumor and perhaps radiation. But Taylor's genetic status put her in a different risk category, and after hearing from four different doctors that her cancer, even if cured, would return, she opted for a double mastectomy and reconstruction. Her surgery is scheduled for May.
Taking the Test
While Taylor confirmed her genetic status after a cancer diagnosis, experts encourage people to test before cancer strikes. For Ashkenazi Jews, having just one relative who has had premenopausal breast cancer warrants getting tested, according to geneticists. (For non-Jews, testing is indicated if there are two relatives.) Any history of male breast cancer or any ovarian cancer in the family also raises a red flag, as do multiple cases of melanoma or pancreatic cancer. And women who themselves have early onset breast cancer should be tested, so they can tailor their treatment and inform other family members.
In the last five years, the number of people testing for the BRCA mutation has increased by 50 percent every year, according to Myriad Genetics, which patented the blood test for BRCA about 12 years ago. About 70,000 people tested last year. Myriad recently launched an East Coast direct-marketing campaign for the test.
Of the estimated 600,000 people who carry the gene in the United States, only about 20,000 have been identified. Of those 600,000 carriers, about 150,000 are Jewish, mostly Ashkenazi. Other ethnic groups, such as French Canadians and Filipinas, also have a genetic predisposition, as do some Latina subpopulations -- some of which have been traced back to having Jewish genes.
Only about 15 percent of people who test come out with positive results, though the percentage is somewhat higher among Jews. But even a negative result is not entirely reassuring, since it indicates only that the specific mutations were not found. Other as-yet-undiscovered mutations, or other genes, could also cause a heavy incidence of cancer in a family, according to Dr. Ora Gordon, director of the GenRISK adult genetics program at Cedars.
Gordon encourages anyone being tested to see a genetic counselor to get the results properly interpreted and to understand their options if they find out they are carriers.
"When learning about this for the first time, very frequently people say to themselves, 'If I'm not going to have surgery, I shouldn't get this test.'" Gordon said. "But that would be a tremendous loss in terms of potential reassurance for people who are not carriers and for identifying people who might have a whole variety of other options that might provide very substantial risk reduction."
Prophylactic bilateral mastectomy -- or having both breasts removed before any sign of cancer -- seems to be growing in popularity as an option in the United States, though hard statistics are just now being compiled.
One recent study of women with the BRCA mutation and a cancer diagnosis put the rate of mastectomy at 50 percent in the United States, the highest by far of anywhere in the world. In Israel, that number is 2 percent, Gordon said.
