This is part of an ongoing series featuring interviews with physicians on topics related to hereditary cancer. This article was written by Payal Shah, MD. Dr. Shah is a medical oncologist and clinical researcher with the Basser Center for BRCA and the Abramson Cancer Center at the University of Pennsylvania. Her areas of expertise are breast cancer, ovarian cancer, and cancer genetics, and her research centers upon risk management for individuals with BRCA mutations and clinical trials to develop new therapies for patients with cancer.
For patients with BRCA mutations but without a diagnosis of breast cancer, there are two main ways to manage the risk of breast cancer. One option is surgery to preventively remove the breasts, called prophylactic mastectomy. The other option is enhanced surveillance, which is a combination of clinical breast exams in the office, annual mammograms, and annual breast MRI. We often stagger the mammograms and the MRIs so that one or the other occurs about every 6 months. For patients who choose to leave their breasts intact, we also discuss medications to help reduce the likelihood of developing breast cancer. The decision to undergo either preventive surgery or enhanced screening with or without risk-reducing medications is a very personal one, and either option is valid. As a provider who helps to counsel individuals with BRCA1 and BRCA2 mutations, I try to talk people through some of the considerations with each approach.
Prophylactic mastectomy is the most effective way to reduce the risk of ever developing breast cancer – it reduces the likelihood of developing breast cancer by upwards of 95%. We typically don’t say that it reduces breast cancer risk down to 0% because there is a very, very slight possibility of a cancer developing in residual axillary (as in, under the arm) breast tissue after a prophylactic mastectomy. Although this surgical option is very effective, it is not a minor surgery. With any surgery, there may be pain, a risk of complications, a period of healing that is not particularly pleasant, and there can be discomfort and numbness that last even after the surgical site itself heals. Aside from these considerations, surgical removal of the breasts can be emotionally and psychologically challenging. Breasts can be an important part of an individual’s sense of self, and some women may hope to breast-feed a child in the future. Not all women feel as tied to their breasts, but this is a very personal issue.
Enhanced Surveillance and Risk-reducing Medications
Enhanced surveillance is also a valid option for women without cancer and with high-risk gene mutations. Enhanced surveillance is unlike prophylactic mastectomy in that it does not reduce the risk of developing breast cancer, but it does increase the likelihood that if a breast cancer is found, it is found at an earlier stage when the likelihood of cure is higher, and the likelihood of needing aggressive treatments is lower – although it is important to mention that there can be exceptions to this. With surveillance, as long as patients undergo the recommended imaging and exams at the recommended times, we as providers fully accept this as an option to manage breast cancer risk. Some women prefer this option because it seems less drastic than a prophylactic mastectomy, but still proactive. For other women, ongoing and lifelong imaging studies can be a major source of anxiety. There can be anxiety before scheduled imaging, on the day of, and while waiting for results – and then there is a risk of false positives that sometimes requires repeat imaging and biopsies, which can produce even more anxiety.
In addition to screening, BRCA1/2 mutation carriers with intact breasts can also take medications to reduce their risk of breast cancer. Tamoxifen is the most well-studied of these medications. For example, taking Tamoxifen for a period of five years can reduce the risk of breast cancer by up to 40%. However, this medication can have potential side effects, some of which are rare but serious, so talking through this medication with your doctor is really important. For some women, starting with surveillance and considering mastectomy later on can be an option that makes sense.
I’ve tried to outline some of the major considerations surrounding breast cancer risk reduction for BRCA1/2 mutation carriers, but in reality there is no single right answer and the conversation needs to be an individualized one, since every person has different priorities and preferences. We at Basser are happy to talk through these issues to help patients make the decisions that are best suited to them, and to connect patients to experienced specialists. Finally, we realize that there need to be better options regarding breast cancer risk management, and that is a major research focus we are working on every day.