Angelina Jolie’s shocking revelation that she had a double mastectomy to prevent breast cancer has left many women wondering if they should get tested for genetic mutations that put them at high risk for the disease.
In a New York Times op-ed titled, “My Medical Choice,” Jolie, 37, reports that doctors calculated that she had an 87 percent risk for breast cancer and 50 percent risk for ovarian cancer, due to carrying a “faulty” version of the BRCA1 gene.
In the announcement—just two days after Mother’s Day—the actress explains that she didn’t want her kids to fear losing her to cancer. In 2007, Jolie’s mom, Marcheline Bertrand, died at age 56, after a 10-year battle with ovarian cancer.
“There are many women who do not know that they might be living under the shadow of cancer,” warns the Oscar-winning star, who urges women to discuss genetic testing for BRCA1 and BRCA2 gene mutations with their doctors.
“It is possible to find out through a blood test whether you are highly susceptible to breast and ovarian cancer, and then take action,” adds Jolie, who reports that her risk of breast cancer has dropped to less than 5 percent after the double mastectomy (which was followed by breast reconstruction).
Over a lifetime, one in eight women will be diagnosed with breast cancer, the most common cancer in women, other than skin cancer. This year, about 232,000 American women will be diagnosed with invasive breast cancer and nearly 40,000 will die from it, according to the American Cancer Society (ACS)
However, only about 10 percent of breast cancers stem from inherited genetic defects, says Charis Eng, MD, Ph.D., founding director of the Cleveland Clinic’s Lerner Research Institute’s Genomic Medicine Institute.
Other risk factors include age (two out of three breast cancers occur in women age 55 or older), dense breast tissue, obesity, lack of exercise, periods that start early (before age 12), and late menopause (after age 55). Women who drink two to five alcoholic beverages daily have 1.5 times the risk of those who don't drink, according to ACS.
Known as tumor suppressor genes, BRCA1 and BRCA2 (breast cancer susceptibility gene 1 and 2 respectively), normally act as the brakes on cancer by helping to prevent cancer growth, says Dr. Eng. “If you’ve inherited a mutated copy of one of these genes, it’s like having faulty brakes on your car—you are much more likely to run into the brick wall of breast or ovarian cancer.”
Having a mutated BRCA1 or BRCA2 gene not only boosts a woman’s lifetime risk for breast cancer up to more than 80 percent—compared to the 12 percent risk for all women—but women who carry this defect also have an up to 50 percent risk for ovarian cancer, compared to the average risk of 0.5 percent, adds Dr. Eng.
Because ovarian cancer rarely causes early symptoms—and there’s no widely available screening test—it often goes undetected until it has spread and is difficult to treat. As a result, it is often fatal. The disease strikes about 22,000 women a year and kills 14,000, according to ACS.
Compounding the danger, women with BRCA1 or BRAC2 mutations are also likely to develop breast cancer at an earlier-than-usual age—typically before menopause—and also tend to be stricken with a highly aggressive form known as “triple-negative breast cancer.” The deadliest form of breast cancer, this subtype lacks three receptors known to fuel most breast cancers and therefore is both extremely difficult to treat and more prone to recur, reports the Triple Negative Breast Cancer Foundation.
Mutations of these genes are more common among certain ethnicities and particularly in people of Ashkenazi Jewish ancestry. In one study, 2.3 percent of people of this ancestry were found to have one of three specific mutations in these genes—a frequency five times higher than in the general population.
Several other ethnic groups also have higher-than-usual rates of BRCA1 or BRCA2 mutations, including people of Norwegian, Dutch, and Icelandic ancestry. In addition, increased rates have been found among French Canadians, Dr. Eng reports. On her mom’s side, Jolie is primarily of French Canadian, Dutch, and German descent.
However, BRCA1 and BRCA2 mutations can also occur in people who are not of any of these ethnicities.
Dr. Eng advises consulting a
genetic counselor to discuss testing if you have the potential red flags listed
below. If none of them apply, you have a very low risk for a harmful mutation.
If one of your relatives has had breast or ovarian cancer at age 50 or younger, the best option is for that person to be tested first. If no mutation is found, the disease is unlikely to be hereditary, so you and other family members won’t need to be checked.
However, if the affected relatives are deceased or unwilling to be tested, then a genetic counselor can help you decide if testing is indicated. The test is performed on a blood sample, which is analyzed for all of the known mutations of the BRCA1 and BRCA2 genes.
Testing costs more than $3,000, says Dr. Eng. “Health plans will often pay what they consider to be the ‘reasonable and customary’ cost of the test, or at least a portion of the cost, if the test is deemed medical necessary due to your family or medical history.” If you have no relatives with breast or ovarian cancer—and don’t have these diseases yourself—your plan is unlikely to cover any of the cost.
There are also blood tests available to check for other genetic mutations linked to increased risk for breast and ovarian cancer, adds Dr. Eng. “There’s also a test that will ultimately be able to check for all ten of the genes at once, but it’s still in the research stages.”
Jolie isn’t the only celeb who has recently undergone this procedure to prevent breast cancer. As I recently reported, Miss America contestant Allyn Rose, 24, also had elective breast removal surgery (followed by reconstruction), in the hope of avoiding the disease that claimed her mom’s life.
NPR reports an increase in women opting to have their breasts removed to prevent cancer. By law, insurers are required to cover reconstruction after the procedure.
A double mastectomy isn’t the only way women facing lifetime breast cancer risk as high as 87 percent due to faulty genes can protect themselves, says Dr. Eng. “Angelina Jolie made a reasonable decision and under these circumstances, many women won’t want to live in terror when breast cancer is almost inevitable."
However, adds Dr. Eng, “another option is having frequent monitoring with both mammograms and breast MRI to catch cancer as early as possible.” When caught in the early stages, breast cancer has a very high cure rate with such treatments as surgery and chemotherapy. In the later stages, new targeted treatments that act like smart bombs—attacking cancer while sparing normal cells—can sometimes help save the lives of women with advanced breast cancer.
“It’s not an incorrect choice to monitor the breasts with imaging to see if cancer actually develops,” says Dr. Eng. Since ovarian cancer has no early warning signs and can’t easily be detected with tests, prevention is more difficult. Dr. Eng notes that the standard of care for ovarian cancer prevention in women with these mutations is a hysterectomy that includes removal of the ovaries and fallopian tubes.
A study published in the Journal of the American Medical Association found that salpingo-oophorectomy—a surgery that removes only the ovaries and fallopian tubes—may reduce the risk of both breast and ovarian cancer in women who have inherited BCRA1 and BCRA2 mutations. Jolie is reportedly planning to undergo surgery to have her ovaries removed, as well.
Women with faulty BRCA genes should discuss the best prevention strategy with a cancer specialist.
Having a BRCA defect increases a man’s lifetime risk for breast cancer by ten-fold, from about 1 percent to about 10 percent, according to Dr. Eng. Therefore, men with these mutations should have their breasts checked with an MRI and a physical exam. In addition, these mutations hike risk for prostate cancer, but doctors typically don’t advise any change in the screening that’s usually advised for this disease.
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