From Florida Hospital Apopka
Risk-reducing surgeries like salpingo-oophorectomies and preventive mastectomies have been in the news a lot lately, in part because celebrities like Applegate and Angelina Jolie have spoken out about their experiences with the BRCA1 and BRCA2 gene mutation. These (and other) mutations can sharply raise a woman’s risk of developing certain cancers over her lifetime.
We spoke with Florida Hospital gynecologic oncologist Dr. Natalie Dauphin McKenzie, who is also a breast cancer survivor, for an in-depth look at who’s at risk and what they can do to protect their health — in body, mind, and spirit.
A: BRCA is a gene that is a transcript for a protein that is involved in DNA repair. We know that when DNA repair is faulty or there are other defects in the DNA that sometimes cancer can ensue. In other words, when the gene is mutated it puts the person at risk for certain cancers.
BRCA1 and BRCA2 are some of the first genes that were discovered to be involved as a hereditary mutation involved in breast and ovarian cancers. Since then, many other genetic mutations have been discovered, but BRCA1 and BRCA2 are the more common hereditary mutations that put women and other family members at risk for different types of cancer.
A: Studies have found that women who undergo what we call a risk-reducing procedure – whether it’s a risk-reducing mastectomy or a risk-reducing salpingo-oophorectomy (removal of the tube and ovary) –significantly reduce their risk of developing ovarian cancer, and even breast cancer.
A: Yes. Specifically, there is data to show that removing the tubes and ovaries decreases the risk of developing these types of ovarian cancers by 85–90 percent. Some studies have shown a decrease by 50 percent of developing some breast cancers if the tubes and ovaries removed in a woman with the BRCA mutations. Not only does removing the tubes and ovaries decrease the risk of ovarian cancer and breast cancer, it also has been shown to decrease overall mortality in women with BRCA1 or BRCA2 genetic mutation.
A: Yes, I do perform risk-reducing salpingo-oophorectomies.
I have performed the procedure on patients who got genetic testing after finding out they had breast cancer. These women are usually referred to me to discuss the procedure and then proceed if that is what they want. In rare cases, it has been performed for patients whose BRCA testing was negative, but who had an extremely strong family history.
For some patients, I can do the entire procedure through their belly button through single-incision laparoscopic surgery (SILS). It’s often called “scarless surgery” because, after the surgery, you can barely see the little scar in the belly button.
A: It drastically reduces the risk. Unfortunately, the risk does not go down to zero. For example, at the time a woman undergoes this procedure, a malignant transformation may already have occurred. These situations are incredibly sad.
There’s also a type of cancer called primary peritoneal carcinoma, in the same family as fallopian tube cancer and epithelial ovarian cancer. Primary peritoneal cancer can still happen over the lifetime of BRCA1 or BRCA2 patients. After having undergone a risk-reducing salpingo-oophorectomy, the lifetime risk is 4.3 percent.
A: Usually, expert recommendations are that it be offered to women by age 40 after they have completed their family planning. On average, we tend to see that women do this between ages 35 and 40, with some exceptions.
A: We can’t say exclusively because our science is evolving, as is our ability to detect new genetic mutations. We have learned to not have too strict of guidelines because we may meet a patient who tests negative for BRCA1 and BRCA2 but has a very strong family history, and we couldn’t ignore that.
A: In the hands of a very skilled surgeon, the risks are minimal. Especially if an expert such as a gynecologic oncologist undertakes the procedure. Surgery is not without risk, however. There’s always a certain small percentage risk of injury to nearby organs, bleeding or infection.
A: Sure. The ovaries are responsible for releasing the female hormones that regulate multiple female bodily functions and cyclical functions. These are the same hormones that have the feedback mechanism of the brain that controls our monthly cycles.
With menopause, the hormones that were produced by the ovaries are now absent. So the female body goes into menopause immediately upon removal of the ovaries, and she undergoes a new equilibrium with the absence of these hormones.
These hormones do contribute to a woman’s overall well-being and bone health. Some studies show that female hormones also contribute to cognitive function. The absence of these female hormones definitely can have some effects on a woman, which is why we don’t routinely recommend that a woman with average risk undergo this type of procedure – because the risk-benefit ratio for the average woman doesn’t support the removal of the tubes and ovaries. Whereas in somebody who has a very high risk of developing a very deadly cancer, the scales are tipped in favor of surgery.
A: So far, we recommend for women who have a family history, especially if there are at least two families members with cancer. Eventually, technology will continue to improve and the test will become more available to the population, but right now the costs can be prohibitive for many people. I’ve even had patients who had ovarian cancer tell me they couldn’t afford the test.
A: What we do know is that of the women who have been diagnosed with ovarian cancer and tested, approximately 10 percent of those have specific BRCA1 or BRCA2 mutation with another 17 percent having BRCA in the tumor itself---this is important to know because BRCA ovarian cancer patient has certain additional treatment options available to them.
patients who appear to have a family history are getting tested for the gene, so we’re unlikely to ever know unless we were to test everybody in the population to see who is truly BRCA or not. What we can consistently do is try and test every ovarian cancer patient, and then at least know more or less how many in that population harbor the gene. Certain populations have an elevated risk and in those populations' genetic testing is more commonly performed.
A: Yes, with Angelina’s story and Christina Applegate’s story we have certainly seen an increase in office visits with specific requests and certain questions that typically were less commonly asked in the past. In my practice, I have seen more requests and more discussion surrounding this topic.
A: Absolutely. At first, there was a little bit of a scare that women who maybe were not necessarily at risk were alarmed and wanted to better understand what they were hearing in the news, but over time there has continued to be really good, healthy questions and discussion around this topic.
A: I was very young when I was diagnosed. I was diagnosed 10 days before my 31st birthday. I actually spent my 31st birthday getting a PET scan to look for metastases. I was a newlywed at the time.
Although scary, I was lucky (a little bit,) in the sense that I was already a medical professional at the time, though sometimes when you know too much it’s even more alarming! I recall as young newly-wed going through breast cancer diagnosis, surgery then chemotherapy and thinking how intimidating it all felt. After all, it was something that I typically associated with older women--menopausal women — people who have already had their families and raised their kids.
I chose to have a double mastectomy; these are life-altering, body image-altering experiences for a young woman. For me, I thought – and still, think – it was the best decision that I made for myself as an individual. I believe every person is different and has to make their own decision as an individual.
I’ve also had family members diagnosed with breast cancer, and every woman made her own individual decisions with regards to her surgery (or lack thereof) and the type of treatment she chose for herself. Even in the same family, people may choose different treatments that are best suited for them.
A: No, I am not positive for BRCA1 or BRCA2. But now that there are a plethora of other genes that have since been discovered, I look forward to setting up my appointment with a genetic counselor and getting tested to maybe better explain the strong family history of cancer that we have.
A: has a great support network with great nurse advocates who can help patients through genetic counseling and testing, and direct them to our high-risk breast clinic and gynecologic oncologists if the case necessitates for either discussion of genetic testing. If a patient is found to be “high-risk” they can be channeled to the right professional to have a discussion about risk-reducing procedures.