Ellen T. Matloff, MS, CGC
Women who carry a mutation for Lynch syndrome (also called hereditary nonpolyposis colorectal cancer syndrome [HNPCC]) are at increased lifetime risk for both ovarian (9%- 12%) and uterine (20%-60%) cancers, and therefore a complete prophylactic hysterectomy, including the uterus, ovaries, and fallopian tubes, is recommended by age 35 in these women.
The risk for ovarian cancer is greater in BRCA1 carriers than BRCA2 carriers, however, and some Lynch syndrome genes are associated with much greater gynecologic cancer risks than others; therefore, detailed genetic counseling by a certified provider is crucial for all carriers before patients undergo any prophylactic surgery.
Although prophylactic surgery can prevent deadly gynecologic cancers in carriers and greatly reduces the risk of breast cancer due to lower estrogen levels, it also brings on an abrupt, surgical menopause in young women. The impact of this surgery is different in every woman, and the potential side effects should not be underestimated. These can include hot flashes, night sweats, lower libido, vaginal dryness, pain during intercourse, depression, mood swings, negative body image, and osteoporosis.
The cancer-reducing benefits of these surgeries outweigh the risks for most women, and most BRCA carriers who experience symptoms after surgery report that they would have the surgery again if they had it to do over. However, there are ways that we as clinicians can make this surgery easier for these women.
Send patients for genetic counseling before they have surgery. We now have data to indicate that some women have prophylactic surgeries they do not need because their genetic test results are misinterpreted or because someone unfamiliar with their specific genetic finding advised that they have the wrong surgery. Different genes are associated with different cancer risks.
Give patients accurate information about possible side effects before they schedule surgery. Women who do not receive detailed information about what to expect from surgery and surgical menopause report being surprised, angry, and depressed when they experience symptoms. A detailed discussion about the possible symptoms and how they can be treated, if they occur, is a part of the surgical decision-making process and should occur before surgery is even scheduled.
Don’t rule out the option of hormone replacement therapy. We now have data to indicate that even for unaffected women who carry BRCA1 and BRCA2 mutations— and are therefore at increased risk to develop breast cancer—hormone replacement therapy is often a viable option. In fact, unaffected BRCA carriers who undergo a premenopausal BSO and take low-dose hormone replacement therapy have a lower risk of developing breast cancer than young BRCA carriers who have their ovaries in place. This hormone replacement therapy can be critical in easing the transition into menopause for these women. Local hormone therapy also can be used safely and effectively in many women, and they should seek specialized counseling if they need such therapy. Such counseling is often offered by gynecologists or gynecologic oncologists specializing in menopause.
Discuss all reproductive options in detail. If a woman needs to have her uterus and/or ovaries removed prophylactically, this does not mean that she cannot have children. She may be a candidate for egg retrieval before her surgery and can create and freeze embryos. Women without a partner can select donor sperm or participate in a program that freezes sections of ovaries. Women without a uterus can use a gestational carrier to carry future pregnancies. For mutation carriers concerned about potentially passing a mutation on to future pregnancies, discuss the option of pre-implantation genetic diagnosis. Assess interest in future pregnancies, and refer interested patients to a reproductive endocrinologist before they schedule prophylactic surgeries.
Outline support options. Excellent support options exist for BRCA carriers through FORCE (www.facingourrisk.org/) and for Lynch carriers through Lynch Syndrome International (www.lynchcancers.com). Speaking to other patients who have been through the same experience can be invaluable.
BRCA and Lynch carriers offered prophylactic surgery often report that they are constantly told how “lucky they are” to be given the chance to avoid a cancer diagnosis, and to some extent these individuals are. But undergoing such a surgery can be a life-changing event for these women—physically, emotionally, and psychologically—and they need the full support of their clinicians.
Ellen T. Matloff, MS, CGC, is a certified genetic counselor and director of Cancer Genetic Counseling at Yale Cancer Center, New Haven, Connecticut.