When a loved one battles breast cancer, the inevitable question is: "What about me?"
Breast cancer affects one out of every eight women; it is second only to lung cancer in the number of American women it kills each year.
The cancer often is diagnosed with screening mammograms or MRIs. But a growing number of women, and some men, are taking prevention a step farther. They're opting for genetic testing to determine the likelihood that they will get cancer, and, depending on those results, many choose to preserve their long-term health through options that include preventative chemotherapy and mastectomies.
Finding the mutation of genes called BRCA1 and BRCA2 is not the same as getting a cancer diagnosis, says Rebecca Sutphen, director of genetic counseling and testing at Tampa's H. Lee Moffitt Cancer Center. A person with the mutation faces a 35 percent to 87 percent risk of developing breast or ovarian cancer in her lifetime.
Learning of that risk leads to myriad questions, says Sue Friedman, founder of Facing Our Risk of Cancer Empowered (FORCE), the nation's only support group for the high-risk hereditary breast and ovarian cancer community.
Friedman knows. She was just 33 when she was diagnosed with breast cancer and underwent a unilateral mastectomy. Months after that procedure, she learned certain groups have a genetic predisposition for early onset cancers. She met the criteria for two: There is a history of breast and ovarian cancer on her father's side of the family and she is of Ashkenazi Jewish heritage.
The discovery felt like being diagnosed with cancer a second time, the Tampa resident says. "Now I had to make decisions all over again." One of those decisions was to undergo a second mastectomy.
Awareness of the BRCA gene test has grown steadily since the mid-1990s. Sutphen says that is partly due to the advocacy efforts of breast cancer survivors who want to keep their sisters and daughters from the ordeal of cancer.
"They want to make it different for other women and their loved ones," she says.
Myriad Genetics Inc., the nation's lone pharmaceutical lab with the ability to identify the BRCA gene, reports that the number of tests increased to 70,000 in 2006 from 20,000 in 2005. A company spokesman told USA Today recently that requests for the $3,000 exam, which is covered by insurance in some cases, continue to grow.
The genetic test most recently grabbed headlines when actress Christina Applegate, 36, reacted to her breast cancer diagnosis and resulting genetic testing by undergoing a double mastectomy. Friedman warns that Applegate's decision, or that of any person with the BRCA gene, may not be what's best for others.
In fact, not all women should undergo the testing. Key questions should first be discussed with a genetic counselor who can look at your family health history and determine if it shows a heredity cancer profile, she said.
"You need to have genetic counseling before testing, and after," Friedman says. "I cannot tell you how important that is."
Sarasota resident Susan Beausang chose to be tested for the BRCA gene only after five women in her family - a grandmother, aunt, her mother and two sisters - were diagnosed with breast cancer. She and another sister decided to have prophylactic mastectomies and to have their ovaries removed.
"While my grandmother and aunt may not have had a choice in the course of their treatment, I felt empowered by this news to take a bold but necessary step and have healthy breast tissue removed," she says.
Friedman says FORCE exists to support anyone who wants to better understand what hereditary cancer means to them. The Web site www.facingourrisk.org presents all sides and options available and gets about 2 million visits a month.
Should I Get Tested?
Lots of questions should be asked before anyone undergoes testing for the breast cancer genes, says Sue Friedman, founder of Facing Our Risk of Cancer Empowered (FORCE). A comprehensive list of risk assessment questions and options is available at the support group's Web site: www.facingourrisk.org.
• Do you have a family history of cancers? Key candidates for testing include those with two or more family members with ovarian cancer and/or breast cancer, especially if the breast cancer was diagnosed at or before age 50. Any ovarian cancers or male breast cancer in the family are also red flags.
• Are you of Ashkenazi Jewish heritage? While 1 in 500 Americans are genetically predisposed to breast and ovarian cancer, that number drops to 1 in 40 for Ashkenazi Jews. Friedman says 90 percent of American Jews are Ashkenazi.
• Have you talked to a genetic counselor? A counselor should be seen before and after testing to determine a true family health history. The FORCE Web site includes help in finding a genetic counselor.
• Are relatives being tested? The best persons to be tested for the BRCA mutation are breast cancer survivors. They can help determine if siblings, children and others may be more at risk.
• Are you staying informed? As many as 90 percent of all cancers have no hereditary link, meaning it's critical individuals stay on top of their own health, including monthly breast self-exams.