As you might have heard, actress Angelina Jolie recently announced that she’d had a preventive double mastectomy after discovering she carried the BRCA1 gene mutation, which sharply increases a woman’s risk of developing breast cancer and ovarian cancer.
We asked Patty Tenofsky, MD, a breast care specialist with Via Christi Clinic to explain the BRCA genes and the options open to women who may have them:
We’re all born with two copies of many different genes, one copy from the mother and the other from the father. Two genes in particular, BRCA 1 and BRCA 2, work to prevent breast and ovarian cancer; however, in some cases, a BRCA 1 or BRCA 2 alteration or mutation is inherited from a parent. This alteration interferes with normal gene activity and makes the person with the altered gene more susceptible to developing breast or ovarian cancer.
Fortunately, these genes are fairly uncommon; only 10 percent of women who are diagnosed with breast cancer will have these altered genes.
In Angelina Jolie’s case, her mother had the gene and sadly, developed and died of ovarian cancer. Angelina had a fifty-fifty chance of inheriting the gene. A simple DNA test gave her the answer. Without the gene, her risk of breast cancer would be like most women at about 10-12 percent and her risk of ovarian cancer would have been less than 2 percent. Unfortunately, her positive test results gave her the tremendously high risk of over 80 percent of developing breast cancer and 40-50 percent risk of ovarian cancer.
Women with the gene can choose to be carefully followed by medical professionals with screening tests such as mammograms, breast MRI’s and pelvic sonograms, which may help detect cancer in an early stage. There are also medications, such as Tamoxifen, that can assist in lowering the risk. The surgical option is a highly personal decision and must be made after counseling with the woman’s physicians and family, and only if the patient understands the benefits and risks. The surgical option lowers the risk of developing cancer most effectively and is why many women with this gene abnormality, such as Ms. Jolie, choose it. Insurance typically pays both for the mastectomies and reconstruction. The ovarian risk is an important factor as well; most women in this situation chose to have their ovaries removed after they have completed childbearing.
If you are concerned about you or your family’s risk of the BRCA gene, please refer to our website and look under the heading “HIGH RISK OPTIONS – GENETIC TESTING” to learn more and try the questionnaire to see if you are at risk.