It’s hard to believe that a mere 40 years ago, public discussion of breast cancer was non-existent. Women with this disease suffered, and were treated, in a veil of secrecy and possibly shame. High-tech breast reconstruction didn’t exist. In 1974, First Lady Betty Ford had a mastectomy, and thanks to her “gift of outspokenness” she went public with her illness and surgery. The rest is history, from pink ribbons to breast cancer walks to official awareness campaigns to advances in diagnosis and treatment. Angelina Jolie’s recent revelation of her own preventive double mastectomy is likely to advance the discussion in new directions.
Ms. Jolie based her decision on the results of a test for mutations in BRCA 1 and BRCA 2 genes. Mutations in these genes are linked to increased risk for developing breast cancer and ovarian cancer. Jolie’s own mother died of ovarian cancer, and her aunt recently died of breast cancer. With a strong family history of these cancers, she was wise to be tested for these rare genetic mutations. According to Lisen Axell, MS CGC Certified Genetic Counselor at the University of Colorado Cancer Center, the trend is for more women with mutations in these genes to get double mastectomies, especially if they’ve seen bad outcomes for close relatives.
But Axell notes, this testing is not for everyone. Only about 10% of breast cancers have a genetic component. And only about half of those are linked to BRCA 1 or 2. The definitive test for these genes was developed and patented by Myriad Genetics. Myriad is the only company that does this testing, and it’s not cheap, costing around $4000. But, as a Myriad spokesperson notes, insurance typically covers the cost for women who clearly are at high risk, based on a family history of breast and/or ovarian cancer, particularly when 2 or more women were diagnosed before age 50; or 3 or more family members had one of these cancers.
Women assessing their risk need to remember: gene mutations can be inherited from both mother and father, so a strong family history of cancer in female relatives on your father’s side may indicated an increased risk for you. A genetic counselor, like Ms. Axell, would gather all that information to determine a woman’s likely risk and the usefulness of genetic testing. She notes that testing is reasonable and appropriate for a small subset of families that meet the criteria. Only about half of family histories for breast cancer can be explained by mutations in BRCA 1 and BRCA 2. A qualified genetic counselor can help clients clarify their risks.
If you do have a high risk genetic mutation, your lifetime risk for developing breast cancer is 50-85%. Ovarian cancer may develop at a young age, particularly for women with BRCA1 mutations. For that reason, Axell notes that removal of ovaries is strongly recommended, and is done by about 80% of affected women. Unlike breast cancer, ovarian cancer is notoriously hard to detect, and has far worse outcomes. Removal of the ovaries is an effective preventive measure.
Axell compares genes to big books, loaded with hundreds or thousands of pages of information. A genetic counselor needs to comb through all of that to identify mutations and determine a patient’s risk level. There are clear guidelines for what to recommend for certain mutations. Ms. Jolie’s decision was not unusual for women in her situation. About ¼ of women chose to get preventive mastectomies. About half of women who are diagnosed with breast cancer make that choice.
Ms. Axell notes some other key points about genetic testing:
- Don’t be complacent if you are tested and you don’t have mutations on BRCA 1 or 2. 90% or more of breast cancers have no known genetic component.
- It’s illegal for employers or medical insurance companies to discriminate based on genetic test results.
- There is no testing for children. This is a test intended for adults to choose, or not, with appropriate counseling.
Doctors may order this testing, but may not be in a position to expertly interpret the results and provide advice. Genetic counselors are trained to do this. Unfortunately, most certified genetic counselors are located in large metropolitan areas. In Colorado, that means people from rural areas must travel to the Denver area.
The National Cancer Institute has more information about testing for BRCA 1 and BRCA 2.