Hereditary breast and ovarian cancer syndrome is an inherited cancer-susceptibility syndrome characterized by multiple family members with breast cancer, ovarian cancer, or both. Based on the contemporary understanding of the origins and management of ovarian cancer and for simplicity in this document, ovarian cancer also refers to fallopian tube cancer and primary peritoneal cancer. Clinical genetic testing for gene mutations allows more precise identification of those women who are at an increased risk of inherited breast cancer and ovarian cancer. For these individuals, screening and prevention strategies can be instituted to reduce their risks. Obstetrician–gynecologists play an important role in the identification and management of women with hereditary breast and ovarian cancer syndrome. If an obstetrician–gynecologist or other gynecologic care provider does not have the necessary knowledge or expertise in cancer genetics to counsel a patient appropriately, referral to a genetic counselor, gynecologic or medical oncologist, or other genetics specialist should be considered (1). More genes are being discovered that impart varying risks of breast cancer, ovarian cancer, and other types of cancer, and new technologies are being developed for genetic testing. This Practice Bulletin focuses on the primary genetic mutations associated with hereditary breast and ovarian cancer syndrome, BRCA1 and BRCA2, but also will briefly discuss some of the other genes that have been implicated.
Committee on Practice Bulletins–Gynecology, Committee on Genetics, Society of Gynecologic Oncology. This Practice Bulletin was developed by the American College of Obstetrician and Gynecologists’ Committee on Practice Bulletins–Gynecology and Committee on Genetics in collaboration with Susan C. Modesitt, MD, and Karen Lu, MD, and by the Society of Gynecologic Oncology in collaboration with Lee-may Chen, MD, and C. Bethan Powell, MD.
This information is designed as an educational resource to aid clinicians in providing obstetric and gynecologic care, and use of this information is voluntary. This information should not be considered as inclusive of all proper treatments or methods of care or as a statement of the standard of care. It is not intended to substitute for the independent professional judgment of the treating clinician. Variations in practice may be warranted when, in the reasonable judgment of the treating clinician, such course of action is indicated by the condition of the patient, limitations of available resources, or advances in knowledge or technology. The American College of Obstetricians and Gynecologists reviews its publications regularly; however, its publications may not reflect the most recent evidence. Any updates to this document can be found onwww.acog.orgor by calling the ACOG Resource Center.
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Hereditary breast and ovarian cancer syndrome. Practice Bulletin No. 182. American College of Obstetricians and Gynecologists. Obstet Gynecol 2017:130:e110–26.