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. HBOC is not associated with any unique physician exam findings.

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 ? 45 y
• Breast cancer diagnosed > 45 y with family history of related cancers
• Triple negative breast cancer diagnosed ? 60 y
• 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:
  • Prophylactic mastectomy
  • Bilateral salpingoophorectomy
  • Heightened surveillance with mammography and MRI
  • Selective Estrogen Receptor Modulators (SERMs) such as Tamoxifen or Raloxifine
  • o Additional guidelines in National Comprehensive Cancer Network (2019): Genetic/Familial High Risk Assessment: Breast, Ovarian and Pancreatic
• 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

• GeneReviews (2016): BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer
• American Society of Clinical Oncology (2019): Hereditary Breast and Ovarian Cancer
• National Cancer Institute (2019): Genetics of Breast and Gynecologic Cancers PDQ
• Jackson Laboratories (2020) Hereditary Breast and Ovarian Cancer Syndrome - Provides education for health care providers

Guidelines

• National Comprehensive Cancer Network (2019): Genetic/Familial High Risk Assessment: Breast, Ovarian and Pancreatic (free registration required for access).
• National Comprehensive Cancer Network (2019): Genetic/Familial High Risk Assessment: Colorectal (free registration required for access).    
• U.S. Preventive Services Task Force (2019): BRCA-Related Cancer: Risk Assessment, Genetic Counseling, and Genetic Testing.
• American College of Medical Genetics & National Society of Genetic Counselors (2014): Referral Indications for Cancer Predisposition Assessment.
• American College of Obstetricians & Gynecologists (2017): Practice Bulletin #182:  Hereditary Breast and Ovarian Cancer Syndrome.
• American College of Obstetricians and Gynecologists (2019): Committee Opinion #793: Hereditary Cancer Syndromes and Risk Assessment.
• American Society of Clinical Oncology (2020): Management of Hereditary Breast Cancer: American Society of Clinical Oncology, American Society for Radiation Oncology, and Society of Surgical Oncology Guideline.
• American Society of Clinical Oncology (2015): Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility.
  

Last Updated: 8/24/2020 12:00:00 AM