Hello. I am Andrew Kaunitz, professor and associate chair in the Department of Obstetrics and Gynecology at the University of Florida College of Medicine in Jacksonville.
Awareness of the role of genetic causes of breast and ovarian cancer continues to increase among women as well as clinicians. BRCA mutations are associated with 4% of breast and almost one quarter of epithelial ovarian cancer cases. These tumor-suppressor gene mutations represent the most common cause of hereditary breast and ovarian cancer syndrome.
Compared with unaffected women, those who carry BRCA mutations are at markedly elevated lifetime risk for breast and ovarian cancers. In certain populations, the prevalence of BRCA mutations is relatively high. For instance, 1 in 40 Ashkenazi Jews, those of European ancestry, harbor these mutations.
ACOG recently updated its guidance for hereditary breast and ovarian cancer. Here are key recommendations:
Genetic counseling should be offered to all women with epithelial ovarian, fallopian tube, or primary peritoneal cancer.
Genetic testing should be offered when counseling points to an inherited cancer syndrome.
In BRCA mutation carriers and women with personal or family histories of ovarian cancer, neither serum screening with CA 125 nor transvaginal ultrasound has been found useful; accordingly, these tests are not recommended.
ACOG's recommendations for breast cancer surveillance for BRCA mutation carriers varies by a woman's age. For women aged 25-29, regular clinical breast examinations and annual breast imaging are advised. In this age group, optimal imaging is MRI of the breast with contrast. For mutation carriers 30 years of age and older, annual mammography and MRI, staggered every 6 months, is recommended.
Women identified as BRCA mutation carriers should be offered risk-reducing bilateral mastectomy and bilateral salpingo-oophorectomy (BSO). The recommended age for BSO is 35-40 for BRCA1 mutation carriers and 40-45 years for BRCA2 mutation carriers.
ACOG specifies that genetic counseling should include pedigree and risk assessment, and should detail benefits, harms, and possible outcomes of genetic testing. Counseling should also address the implications of disclosure or nondisclosure of results to family members. Clinicians without the needed expertise in cancer genetics should refer patients to a genetic counselor; this is what I do in my practice.
Unfortunately, the availability of trained genetic counselors is limited in many areas. In response to this scarcity, some genetic testing labs now offer formal genetic counseling to patients via phone contact.
Thank you for the privilege of your time. I am Andrew Kaunitz.
Medscape Ob/Gyn © 2017 WebMD, LLC
Any views expressed above are the author's own and do not necessarily reflect the views of WebMD or Medscape.
Cite this: ACOG's Updated Breast and Ovarian Cancer Syndrome Guidance: What to Know - Medscape - Sep 26, 2017.