BRAC1 & BRAC2 Carriers

Hereditary breast and ovarian cancerOvarian cancer is the most lethal gynecologic malignancy. This is because we lack a reliable screening test to detect early-stage ovarian cancer and most women have advanced disease when the diagnosis is discovered. The average age at diagnosis is 63 years old. Lifelong risk of developing a nonhereditary ovarian cancer is 1.4% or about 1 in 70 (as compared to 1 in 7 for breast cancer). This risk is decreased if a woman has had 3 or more term pregnancies and if a woman has taken combined hormonal therapy (birth control pills, vaginal ring, or patch) for at least 4 years.

Hereditary breast and ovarian cancer (HBOC) syndrome is an inherited cancer-susceptibility syndrome. The hallmarks of this syndrome are multiple family members with breast and/or ovarian cancer and early age of breast cancer onset. In patients at high risk for hereditary breast and ovarian cancer syndrome, genetic testing for BRCA1 and BRCA2 germline mutations is available. The BRCA gene testing is provided by the company Myriad and can be performed from a small blood or saliva sample collected in the office. The result of this test can help physicians precisely identify who is at substantial risk of breast and ovarian cancer. Approximately 10% of cases of ovarian cancer and 3-5% of cases of breast cancer are due to these 2 mutations. In the general population, 1 in 300-800 individuals carry a mutation in BRCA1 and BRCA2. These mutations are more common in certain populations including Ashkenazi Jews, French Canadians, and Icelanders. For a woman with a BRCA1 mutation, the risk of ovarian cancer is about 40-46%, and for BRCA2, the risk is 12-20%. The estimated lifetime risk of breast cancer with either mutation is 65-74%. Primary peritoneal cancer and primary fallopian tube cancer risks are also increased. To learn more about BRCA gene testing, please visit the Myriad website.

Options for patients, who test positive for BRCA1 or BRCA2 mutation, include surveillance, chemoprevention, and surgery. Available ovarian cancer screening tests/procedures are very limited and there is no evidence that screening alone has reduced the mortality or improved survival associated with hereditary breast and ovarian cancer syndrome. Hopefully we will develop better serum markers and improved screening algorithms in the future to aid our existing tests. For the time being, consensus groups have recommended periodic screening with CA 125 and transvaginal ultrasonography, beginning between 30-35 years old or 5-10 years earlier than the earliest age of first diagnosis of ovarian cancer in the family (but not earlier than 21 years old). Given the limitations of current ovarian cancer screening approaches, preventive/prophylactic removal of ovaries and fallopian tubes (bilateral salpingo-oophrectomy BSO) should be offered to patients with HBOC syndrome by the age of 40 years old or after childbearing is completed. This can decrease the threat of ovarian, fallopian tube and primary peritoneal cancers by approximately 85-90% and also has been shown to reduce overall mortality in HBOC syndrome patients.

Traditional surgery to prophylactically remove the ovaries and tubes involves a large incision in the abdomen. This results in significant pain as well as inpatient stay of 2-3 days and additional recovery of 4-6 weeks. The best approach is to perform minimally invasive surgery via a laparoscopic bilateral salpingo-oophrectomy (BSO). The advantages of a laparoscopic approach include better visualization, decreased pain, much shorter recovery time and better cosmetic outcome. The procedure is performed in an outpatient surgery center under general anesthesia and patients go home the same day.

 

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