Hereditary breast and ovarian cancer syndrome is an inherited cancer-susceptibility syndrome. The hallmarks of this syndrome are multiple family members with breast cancer or ovarian cancer or both, the presence of both breast cancer and ovarian cancer in a single individual, and early age of breast cancer onset. Clinical genetic testing for gene mutations allows physicians to more precisely identify women who are at substantial risk of breast cancer and ovarian cancer. For these individuals, screening and prevention strategies can be instituted to reduce their risks. Obstetricians and gynecologists play an important role in the identification and management of women with hereditary breast and ovarian cancer syndrome (American College of Obstetrics and Gynecology). Who Should be Tested? Recommendations on which women should be tested for the BRCA gene mutation include those women with a personal history of ovarian, peritoneal or fallopian tube cancer. Women with a personal history of breast cancer at an early (under-50) age also should consider testing. Ideally, the family member diagnosed with the breast or ovarian cancer should be the first one tested for the BRCA gene mutation if possible. Then, if positive, family members can then be offered testing. Many times, patients present to my office asking to be tested for the BRCA gene mutation. However, they actually are not considered high-risk and do not meet national cancer guidelines for testing. Therefore, determining candidacy for such testing requires a comprehensive evaluation of family history, diagnoses and estimation of risk, which may be best performed by a licensed genetic counsellor. What is Your Risk if You Are BRCA Positive? Unfortunately, women with BRCA mutations are at high risk for both ovarian and breast cancer. Women who test positive for BRCA1 mutation have a cumulative cancer risk of approximately 60 percent for breast cancer and 40 percent for ovarian cancer. Those women who test positive for BRCA2 have a cumulative cancer risk of 50 percent for breast cancer and nearly 20 percent for ovarian cancer. What Are Your Treatment Options? There are breast and pelvic surgery risk-reducing options which markedly decreases the risk of developing breast and ovarian cancer. Two main factors that influence women in their decision making for preventive surgical treatment include their age and desire to preserve childbearing. Research shows that women who have completed risk-reducing surgery have been very satisfied with their decision. Breast Surgery Bilateral total mastectomy is the standard and most effective risk-reducing procedure for prevention of breast cancer. Following such surgery, most women may move forward with multistage breast reconstructive surgery. Pelvic Surgery Bilateral salpingo-oophorectomy (BSO) (removal of both fallopian tubes and ovaries) is the standard operation to reduce the risk of ovarian cancer in BRCA mutation carriers. Important to note is that hysterectomy is not necessary and does not provide any benefit to such BRCA carriers. Most BSO surgery may be done as an outpatient (same-day surgery) and performed laparoscopically through two to three tiny 2 centimeter incisions. Latest literature suggests that most primary ovarian cancers actually originate in the fallopian tubes, then spread to the nearby ovary. This has changed our recommendations for those women having hysterectomy for various reasons. We now have been recommending such patients have their fallopian tubes electively removed at the same time as hysterectomy to reduce their lifetime risk of developing ovarian cancer. Women with BRCA1 mutations should have risk-reducing BSO surgery by age 35, as waiting appears to increase the risk of ovarian cancer. A latest report, published last week in the Journal of Clinical Oncology, studied nearly 5,800 women with the specific genetic mutations BRCA1 and BRCA2 and found that women with BRCA1 and BRCA2 mutations who protectively had their ovaries removed reduced their risk of ovarian and fallopian tube cancer by 80 percent, and their overall risk of death by 77 percent. In contrast, women with BRCA2 mutations can safely delay surgery until their 40s, the study suggests, as their risk of ovarian cancer is not as strong. Is Estrogen Safe to Use After Risk-Reducing BSO? Yes. For young women who have elected to have this surgery, estrogen-replacement therapy or even oral contraceptives are helpful in reducing “menopausal” symptoms such as hot flushes, sleep disturbance, and vaginal dryness. Although there is theoretical concern that supplemental estrogen may increase the risk of breast cancer in such patients, most physicians are comfortable prescribing estrogen replacement therapy to young BRCA carriers following their risk-reducing BSO surgery. In young patients who have undergone BSO surgery, a bone-density should be performed as now osteoporosis becomes an early concern. Additionally, weight-bearing exercise, calcium and Vitamin D 600 units supplementation daily is recommended. If you opt against surgery What kind of surveillance and follow up is recommended for those BRCA positive patients who choose not to have risk-reducing surgery? Starting at age 25: Clinical breast examination 1-2 times annually; alternate breast MRI and mammography twice annually. Starting at age 35 (or at an age 10 years younger than the earliest age of onset of ovarian cancer in the family): pelvic examination. Twice annually: CA125 measurement and pelvic ultrasound. The research on screening and latest treatments for BRCA positive patients continues to evolve, but one thing remains constant: An ounce of prevention is worth a pound of cure.
