On May 14, 2013 an op-ed by actress Angelina Jolie appeared in the New York Times where she spoke of the preventive mastectomy and reconstructive surgeries she underwent in order to drastically lower her risk of developing breast cancer. Her story left many women eager to learn more about this surgery and whether it’s a choice they should consider.
BRCA1 and BRCA2 Mutations
BRCA1 and BRCA2 are genes that aid in tumor suppression. Certain mutations in these genes are associated with an increased risk of breast cancer. About 12 percent of women in the general population will develop breast cancer, whereas about 60 percent of women with the BRCA1 or BRCA2 mutation will develop breast cancer—that is a fivefold increase in risk. In addition, women who have the mutation are more likely to develop breast cancer at a relatively young age (before menopause) and are at higher risk of developing ovarian cancer.
Only about one in every 300 to 500 women (one-quarter of one percent) have detectable BRCA gene mutations, and only around five percent of all breast cancers are inherited. In other words, the mutation is rare. Formerly, the test was only available through Myriad Genetics, with costs ranging from $400 to $4,000, depending on the extent of testing. However, a landmark Supreme Court ruling recently banned patents on naturally occurring genes, which has opened the door for numerous other companies to offer the screening. Already, the competition is driving down the cost of screening.
Who Should Get Tested
There are no official guidelines determining who should get tested for BRCA mutations but the Mayo Clinic provides a list of indicators of increased risk of BRCA mutation:
• A personal history of premenopausal breast cancer, breast cancer in both breasts (bilateral), or both breast and ovarian cancers
• Multiple close relatives (parents, siblings, children) with premenopausal breast cancer
• A family member with bilateral breast cancer
• A personal history of ovarian cancer and a close relative with ovarian cancer, premenopausal breast cancer, or both
• Ovarian cancer in multiple relatives
• Both breast and ovarian cancers in one family member
• A male relative with breast cancer
• A relative with the BRCA1 or BRCA2 mutation
• Ashkenazi Jewish ancestry with a close relative who has had breast or ovarian cancer or this ancestry with a personal history of ovarian cancer
Many women who have the above indicators are apprehensive about being tested. However, while the test is daunting, Dr. Amy Shaw, a family physician and the medical director of the Cancer Survivorship and Prevention Program at the Redwood Regional Medical Group in Santa Rosa, California, emphasizes the importance of getting tested if you have these indicators. “Not being tested doesn’t change whether you have the mutation or not,” she says. “Not being tested just means you can’t act on it.” Shaw stresses that knowing your BRCA status not only gives you, but also your family, added insight, since this is a heritable mutation.
Prophylactic mastectomy is when a person has one or both of her breasts removed prior to a breast cancer diagnosis. The surgery may reduce the chances of breast cancer by 90 percent in high-risk women. It is impossible to remove all of someone’s breast tissue, so a small risk of cancer still exists.
Shaw says that additional time is one of the big advantages of doing this surgery before a diagnosis. A woman will be able to choose her doctors, surgeons, and the types of operations she’ll undergo on her schedule.
Preventative mastectomy has been the solution for many women who have the BRCA mutations, but not every woman chooses this option. “This is not an easy decision; it’s an extremely personal decision, and what’s right for one woman is not necessarily right for another,” says Shaw. She encourages people to support the women who choose not to get the surgery as well as those who do.