Hereditary Breast and Ovarian Cancer (HBOC) SyndromeThe genetic basis of HBOC is a germline (inherited) mutation in either the BRCA1 or BRCA2 genes. Normally, the proteins produced by the BRCA1 and BRCA2 genes prevent cells from becoming malignant by aiding in the repair of mutations in other genes through a process known as double-stranded DNA repair. Therefore, an inherited mutation in either of these genes, also known as tumor suppressor genes, greatly increases the probability of malignant transformation and cancer. Approximately 7% of breast cancer and 11 - 15% of ovarian cancer cases are caused by BRCA1 or BRCA2, which are inherited in an autosomal dominant pattern. When assessing hereditary cancer risk, a patient’s personal and family history is collected to investigate the risk for HBOC. Once a patient is identified as being at increased risk of HBOC, genetic test results provide the most accurate means of cancer risk assessment for a patient.
Identifying HBOC PatientsIndividuals with a personal history of, or a close blood relative (1st, 2nd or 3rd degree in the maternal or paternal lineage) with, any one of the Red Flags are at increased risk of HBOC. Further clinical evaluation by a qualified healthcare professional to determine the appropriateness of genetic testing is warranted. "Breast cancer" includes both invasive cancer and ductal carcinoma in situ (DCIS). "Ovarian cancer" includes epithelial ovarian cancer, fallopian tube cancer, and primary peritoneal cancer. Personal and/or family history of:
- Ovarian cancer
- Breast cancer diagnosed before age 50
- Two primary breast cancers
- Male breast cancer
- Triple Negative Breast Cancer
- Ashkenazi Jewish ancestry with an HBOC-associated cancer
- Three or more HBOC-associated cancers at any age
- A previously identified HBOC syndrome mutation in the family
What is BRACAnalysis®?BRACAnalysis® testing assesses a woman’s risk of developing hereditary breast or ovarian cancer based on detection of mutations in the BRCA1 and BRCA2 genes. This test has become the standard of care in identification of individuals with hereditary breast and ovarian cancer.
Benefits of BRACAnalysis® TestingThe results of the BRACAnalysis® test enable the development of a patient-specific medical management plan to significantly reduce the risk of cancer. BRACAnalysis will allow you to:
- Target increased surveillance and other interventions specifically to individuals with an BRCA1 or BRCA2 mutation - maximizing patient care and increasing clinical efficiency
- Significantly improve outcomes and reduce medical costs through earlier diagnosis and treatment of cancer, should it develop
- Counsel patients and family members on the underlying causes of the pattern of breast and/or ovarian cancers in their family
- Avoid unnecessary interventions for family members who do not test positive for the mutation known to be in the family
Medical Management of patients with HBOCIf BRACAnalysis® testing confirms the presence of a BRCA1 or BRCA2 mutation, the following medical management options may help reduce cancer risk and may either delay the onset of cancer, detect cancer at an earlier, more treatable stage or even prevent it.
- Increased surveillance for breast cancer in mutation carriers
- Increased surveillance for ovarian cancer in mutation carriers
- Risk reducing medications for mutation carriers
- Prophylactic surgery in mutation carriers