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Management of Hereditary Breast and Ovarian Cancer Syndrome

已有 1592 次阅读 2017-9-12 21:09 |个人分类:临床指南和病例解析|系统分类:观点评述

Management of Hereditary Breast and Ovarian Cancer Syndrome

The following recommendations are based on good and consistent scientific evidence (Level B):
Genetic counseling is recommended for all women with ovarian epithelial cancer (this includes fallopian tube cancer or primary peritoneal cancer) and for individuals who have a personal or family history of breast cancer or ovarian cancer.
Women with BRCA mutations or who carry another actionable deleterious mutation that is predisposing to breast cancer should be offered risk-reducing bilateral mastectomy.
Women with BRCA mutations or who carry another actionable deleterious mutation predisposing to ovarian cancer should be offered risk-reducing bilateral salpingo-oophorectomy. The timing of risk-reducing bilateral salpingo-oophorectomy can be individualized based on the particular genetic mutation, the patient’s desires for future childbearing, and family history. Typically, risk-reducing salpingo-oophorectomy is recommended at age 35–40 years for BRCA1 carriers with the highest lifetime risk of ovarian cancer, whereas women with BRCA2 may consider delaying until age 40–45 years because of later onset of ovarian cancer.
For a risk-reducing bilateral salpingo-oophorectomy, all tissue from the ovaries and fallopian tubes should be removed. Thorough visualization of the peritoneal surfaces with pelvic washings should be performed. Complete, serial sectioning of the ovaries and fallopian tubes is necessary, with microscopic examination for occult cancer.
The following recommendations are based primarily on consensus and expert opinion (Level C):
Evaluating a patient’s risk of hereditary breast and ovarian cancer syndrome should be a routine part of obstetric and gynecologic practice. Initial risk evaluation should include a personal medical history and family history.
Genetic testing is recommended when the results of a detailed risk assessment that is performed as part of genetic counseling suggest the presence of an inherited cancer syndrome for which specific genes have been identified and when the results of testing are likely to influence medical management.
The two main genetic testing options for hereditary breast and ovarian cancer syndrome are BRCA mutation testing and multigene panel testing that includes both BRCA and other genetic mutations.
Multigene panel testing may be useful when more than one gene may be associated with an inherited cancer syndrome or when a patient has a personal or family history that is consistent with an inherited cancer susceptibility, but single-gene testing has not identified a pathogenic variant.
In women with BRCA mutations or who have a personal or family history of ovarian cancer, routine ovarian cancer screening with measurement of serum CA 125 level or transvaginal ultrasonography generally is not recommended. Transvaginal ultrasonography or measurement of serum CA 125 level may be reasonable for short-term surveillance in women at high risk of ovarian cancer starting at age 30–35 years until the time they choose to pursue risk-reducing bilateral salpingo-oophorectomy, which is the only proven intervention to reduce ovarian cancer-specific mortality.
For women aged 25–29 years with known BRCA mutations, recommended breast cancer surveillance includes clinical breast examination every 6–12 months and annual radiographic screening (preferably, MRI with contrast).
For women aged 30 years and older with known BRCA mutations or other actionable breast cancer mutations, recommended breast cancer surveillance includes annual mammography and annual breast MRI with contrast, often alternating every 6 months.
Women who have a personal or family history of breast or ovarian cancer but who do not have a documented mutation in BRCA1, BRCA2, or other hereditary breast or ovarian cancer-associated gene should be managed based on their family history.