For many people, the first time they heard of the BRCA1 and BRCA2 genes was last week, when actress Angelina Jolie confided to the world that she recently underwent a prophylactic double mastectomy followed by reconstructive surgery in a New York Times Op-Ed piece.
Ms. Jolie revealed that she had tested positive for a mutation of the BRCA1 gene, which dramatically increased her risk for breast cancer to 87%. This risk informed her decision to preventatively remove her breasts at age 37 to reduce her risk for breast cancer to less than 5%.
The BRCA1 and BRCA2 breast-cancer susceptibility genes are tumor suppressors. Normally functioning, these genes control cell growth and division, and help repair damaged DNA. Mutations of either gene can increase a person’s risk for breast and ovarian cancers, as well as other types of cancers.
According to the National Cancer Institute at the National Institutes of Health, 12% of women will develop breast cancer sometime during their lifetime. When a mutation of the BRCA1 or BRCA2 gene is present, that risk increases to 60%. Family history and ethnicity can increase that risk even further.
After careful screening and history taking, I give high-risk patients information about BRCA1 and BRCA2 screening. This is a costly test and not a standard screening tool for the general patient population. Women with a personal history of premenopausal breast cancer or a strong family history of breast and/or ovarian cancers should be tested.
If a patient tests positive for a BRCA1 or BRCA2 mutation, genetic counseling should be done to help determine actual risk. A confirmed BRCA1 or BRCA2 mutation does not mean a patient has cancer. It means the patients should be given options for prevention and should be closely monitored for breast and ovarian cancers.
Prophylactic mastectomy and/or oophorectomy are the most extreme measures to reduce the risk for cancer in a patient with a BRCA1 or BRCA2 mutation. But some women, especially younger women, will not be ready or willing to take this dramatic step.
More frequent screening with mammography, MRI and twice annual clinical breast exams are an option for women who decline preventative surgery. Chemoprevention may also be an option for some women.
I applaud Angelina Jolie her honesty and willingness to share her story with the world. This is a decision that would be difficult for any woman, let alone a young Hollywood starlet known for her voluptuous body. I hope her straightforward admission of her experience removes some of the stigma that still exists around breast cancer and mastectomy.
However I do fear that the next time I tell a woman she is not an appropriate candidate for BRCA1 and BRCA2 testing, she might blame Obamacare or claim the rich and famous can afford a better standard of care than the average woman.
Instead I hope that new awareness of BRCA1 and BRCA2 will open up discussion on breast and ovarian cancer risk and appropriate screening methods.
I hope that women at greater risk for breast and ovarian cancer have gained a better understanding of BRCA1 and BRCA2 screening and will be less fearful to have the test done. Most of all, I’d love to see this newfound awareness translate into more affordable and widespread testing for patients who need it.
Robyn Carlisle, MSN, CNM, WHNP, works as a full-scope midwife at University Doctors and Kennedy University Hospital in Sewell, N.J.