Dr. Alan Stolier is a surgeon at the Center for Restorative Breast Surgery in New Orleans. He has more than 35 years of experience in surgical oncology. He specializes in the surgical treatment of breast cancer and is a pioneer in the development of nipple-sparing mastectomy. Dr. Stolier also focuses on breast cancer genetics and the associated care of women who have a BRCA and other gene mutations.
Breasthealth.org talked with Dr. Stolier about current breast cancer screening recommendations and how women can better understand their own personal risk of breast cancer—and potentially manage that risk. Even though most women who get breast cancer do not have a family history, it is the risk factor with the most evidence behind it. So we also asked Dr. Stolier about how women can decide whether they might be at risk for hereditary breast cancer and what they can do about it.
OPTIONS FOR WOMEN AT HIGH RISK (Final article of a 3 part series)
1. If a person tests positive for an inherited gene mutation that puts her at high risk for breast cancer, what are the next steps?
2. So when you talk about lowering risk, what’s different for women who carry a breast-cancer-related genetic mutation?
3. If a person tests negative for a mutation but still has a strong family history, what would you say to that person about possible next steps? Does this change any type of insurance coverage?
Well, now there are so many genes besides BRCA1 and BRCA2, so we have to discuss which mutation she has and what the lifetime risk of breast cancer might be. More often than not, we are testing a panel of genes. BRCA-related risks are somewhere in the 60- to 85-percent range. There’s a mutation in a gene called p53, which is considered high risk. There’s another called PALB2, and the risk there is thought to be about 30 percent.
Just to give you an example of the complexity of the things that we’re dealing with now, there’s another gene that we’re seeing a fair number of positives on, and it’s called CHEK2. The lifetime risk of breast cancer with that one is thought to be 20 percent, but it might be higher when there is also a strong family history. Right now, it’s not really classified as a high-risk mutation, but PALB2 is. And there are other gene mutations being tested for too, like STK11, CDH1, BRIP1. So we have some figuring out to do about the cancer risk associated with each one.
But I would say that whenever you can see a mutation going through a family and women developing breast cancer, or ovarian cancer, or one of the related cancers, you need to pay attention. As the next year or two goes by and more of these larger panel tests are completed, we’re going to have a better idea of the risks associated with the various mutations. That will guide us in terms of what to suggest for next steps: more screenings, taking risk-reducing hormonal therapy, considering preventive mastectomy. Generally if there is a 20-percent or higher lifetime risk, we’d want to do something.
If a person tests positive for any of these mutations, the next step, if they haven’t already done so, is to see a surgical oncologist with expertise in breast cancer. The general recommendation would be to begin breast self-exams at age 25 and have a clinical breast exam by a specialist once or twice a year. Then we’d recommend screening with mammograms and MRIs beginning at age 30 — at least 10 years before most women begin screening. Generally speaking, we do an MRI at one six-month interval and a mammogram at the next six-month interval. So, essentially, each test is being done once a year, but a woman’s breast is being looked at and screened twice a year.
We would recommend the same practice for women who have a strong family history of breast cancer but have not tested positive for one of the gene mutations. This also includes women who have had biopsies showing atypical pre-cancerous changes.
Screening doesn’t lower risk, but it increases the odds of early detection. Depending on the particular mutation, the next step may be to discuss ways to lower risk.
We would talk with her about strategies proven to reduce risk. One is hormonal therapy, which doesn’t mean giving someone hormone replacement therapy. It means giving medications that block the effects of female hormones on breast tissue. Tamoxifen is one option, and it can be used in both premenopausal and post-menopausal patients. Another class of drugs is aromatase inhibitors, which are used only in postmenopausal women. Each has its own set of issues and side effects, so often the medication you start with isn’t the one a woman ends up on. Right now, women tend to stay on it for five years. We have data showing that the risk reduction effect probably lasts for about 10 years after that, but this is still being studied.
Sometimes it’s a strategy you can use the bridge the gap until a woman is ready to consider risk-reducing surgery. A woman may want to do something to reduce her risk, and then maybe in five to seven years or so she will be ready to consider surgery.
Whether we talk about surgical removal of the breasts really depends on what mutation the woman has. Right now, for example, the medical community doesn’t think that a CHEK2 mutation, with approximately a 20-percent lifetime risk of breast cancer, is high enough to discuss surgery. However, I might discuss it if a woman also has a strong family history. But when we have risk higher than 20 percent, we generally present it as an option.
As far as lifestyle changes go, we don’t really have the data to know if they will make a difference in a patient who carries a breast cancer-related gene mutation. But I still stress that they are important. For instance, if a woman is overweight, I talk to her about how this can affect hormone levels. I talk about exercise. Exercise is the one thing we do have some fairly good data on, and I tell them to try to control their weight. I might talk a little bit about healthy eating, but we don’t have as much data to make definitive recommendations there.
We absolutely step up screenings on people with strong family histories who test negative. My rule is that family history trumps genetic testing. If I am very surprised they tested negative, I treat them almost like they tested positive and I offer them all of the same options. Surveillance is what I described before: alternating mammograms and MRIs every 6 months. If I can prove to the insurance company, using a computerized risk assessment tool, that the woman’s lifetime risk is 20 percent or higher, there usually is not a problem with insurance coverage.
If the risk is high enough, we also might offer hormonal therapy and even in some cases surgery. Of course, we are not on the same ground as we are with women who have a confirmed mutation. If we can find a family member who has had breast or ovarian cancer and test that relative, and she tests positive for a mutation, that is the best case. If our patient tests negative, she can just go back to regular screening because she knows she didn’t inherit the mutation.
Really it’s about trying to figure out the whole story as best you can.
If you are looking for more detailed information on prophylactic mastectomy and reconstruction, follow three amazing women as they share their stories with Breastcancer.org. (video)