Resources & References for Healthcare Professionals
What is Hereditary Breast and Ovarian Cancer Syndrome (HBOC)?
Hereditary breast and ovarian cancer syndrome (HBOC) is an adult-onset, cancer predisposition syndrome. HBOC is characterized by a high risk of breast and ovarian cancers, and an increased risk of other cancers such as male breast cancer, prostate cancer, pancreatic cancer, and melanoma. Individuals with HBOC tend to develop cancer at an earlier age than the general population, and have higher risk for bilateral breast cancer, a second primary tumor in a different tissue, and cancer recurrence.
Click here to learn more about HBOC and the Georgia Genetics Program.
Family history clues that indicate a possible risk for HBOC include a personal or family history of:
- A known mutation in a cancer susceptibility gene
- Ovarian (including Fallopian tube or primary peritoneal) cancer
- Male breast cancer
- Pancreatic cancer
- Metastatic prostate cancer
- Breast cancer diagnosed under 50 y
- Breast cancer with family history of related cancers
- Triple negative breast cancer
- Two primary tumors in the breast
- Ashkenazi Jewish ancestry and breast or high grade prostate cancer at any age
- BRCA1/2 mutation identified in tumor profiling
- In the absence of personal history, family history of the above
How will this knowledge benefit my patient?
- Potential benefits of identifying individuals at hereditary risk for breast and ovarian cancer are well-documented (18-31) and include management options for BRCA1/2 mutation carriers such as:
- Identification of a BRCA1/2 or other HBOC-related mutations also allow for accurate testing of family members to identify who is and is not at increased risk for cancer.
Should I refer my patient for cancer genetic counseling?
Potentially harmful mutations of the BRCA1/2 genes are associated with increased risk for breast, ovarian, fallopian tube, and peritoneal cancer. For women in the United States, breast cancer is the most common cancer after nonelanoma skin cancer and the second leading cause of cancer death. In the general population, BRCA1/2 mutations occur in an estimated 1 in 300 to 500 women and account for 5% to 10% of breast cancer cases and 15% of ovarian cancer cases. A woman’s risk for breast cancer increases if she has clinically significant mutations in the BRCA1/2 genes. Mutations in the BRCA1/2 genes increase breast cancer risk to 45% to 65% by age 70 years. Risk of ovarian, fallopian tube, or peritoneal cancer increases to 39% for BRCA1 mutations and 10% to 17% for BRCA2 mutations.
Why use a family history tool for risk assessment?
The United States Preventive Services Task Force (USPSTF) (2019) determined that sufficient evidence exists to recommend that primary care clinicians assess women with a personal or family history of breast, ovarian, tubal, or peritoneal cancer or who have an ancestry associated with breast cancer susceptibility 1 and 2 (BRCA1/2) gene mutations with an appropriate brief familial risk assessment tool. Women with a positive result on the risk assessment tool should receive genetic counseling and, if indicated after counseling, genetic testing.
Click here to use our breast and ovarian cancer genetic referral screening tool for your patients.
Click here for information on how our screening tool's scoring should be interpreted.
Resources
Guidelines
Last Updated: 2/12/2025 1:53:31 PM