December 30, 2015
Women with mutations in the HBOC genes (BRCA1/BRCA2) or the Lynch syndrome genes (MLH1, MSH2, MSH6, PMS2, and EPCAM) are at an increased lifetime risk for ovarian and fallopian tube cancer (as high as 40 percent compared to the average population risk of 1.4 percent). Unfortunately, today’s screening options of CA-125 blood tests and transvaginal ultrasounds are not able to detect early stage ovarian cancer. Thus, the National Comprehensive Cancer Network (NCCN) recommends that women with BRCA mutations consider a bilateral salpingo-oophorectomy (BSO) between ages 35 and 40 or when childbearing is complete. However, this surgery puts premenopausal women into surgical menopause, which negatively affects the quality of life for some of these patients.
We have partnered with the gynecology/oncology group here at UT Southwestern to survey this population of patients and improve their care. Under the direction of Dr. Siobhan Kehoe, 91 patients who completed a risk-reducing BSO at UT Southwestern or Parkland hospitals received surveys asking about their experiences pre- and post-surgery.
Forty-two patients (46 percent of those who completed the BSO) responded, providing insights into their quality of life after learning about their genetic mutation.
Overall, most patients with BRCA1/BRCA2 mutations underwent risk-reducing BSO within one year. However, patients were an average age of 40, and those who were Lynch syndrome carriers were an average age of 42. This is on the older end of the age recommendation and highlights the need for providers to identify these high-risk patients at younger ages to ensure appropriate care is given at the recommended ages. Fortunately, no occult cancers were identified in any of the patients in this cohort at the time of risk-reducing BSO.
Most patients reported that they felt well-counseled by their genetic counselors and physicians prior to surgery. However, many patients added that they turned to online message boards, support groups, and other patients for additional information. As part of our genetic counseling process, patients with identified mutations are given a list of resources that includes online and in-person support networks, ensuring that patients are not alone in their experiences of living with an increased risk for cancer.
The biggest discovery from this group of patients was that, as expected, many patients’ quality of life was impacted by menopausal symptoms, including the hot flashes, vaginal dryness, and lack of sex drive that accompany a BSO. However, few of these patients were treated with hormone replacement therapy, vaginal estrogen, or other medications to aid in relieving these symptoms. These types of responses will now be used to guide us in managing the care of our patients and to suggest appropriate avenues for them to explore to alleviate their symptoms.
From this work, we now have a baseline of how our women with HBOC and Lynch syndrome mutations feel before and after undergoing risk-reducing surgery. This information gives their providers a better idea of the issues to address to improve their care long-term. As the world of genetics expands and more genes are identified that increase ovarian and fallopian tube cancer risks, this data will serve as a baseline to standardize and treat menopausal symptoms. From this work, we will also work with the gynecology oncology clinic on future studies to continuously improve our understanding of the unique needs of this patient population.