Hereditary Breast and Ovarian Cancer (HBOC) Syndrome
The 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 Patients
Individuals 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® Testing
The 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 HBOC
If 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
What is the unique advantage of Myriad’s BRACAnalysis® test?
Over the last 20 years, Myriad has delivered more than one million test results. Results are reviewed rigorously in a strict quality control process, with a second round of testing for reportable mutations. Myriad has the lowest VUS rate globally with a < 3% VUS rate for BRCA1 / BRCA2 mutations. A lower VUS rate means a lower chance of resulting in an uncertain result, which means more confidence and clarity in your results.
HBOC and BRACAnalysis® FAQs
How do I order a test?
Please contact us and let us know if you would like to order a test for a patient. One of our representatives will get in touch with you and advise on the workflow, and provide the necessary forms and sample collection kits. Once the samples have been collected, we will coordinate the shipment of the sample to the laboratory. Once testing is completed, the report will be sent to you.
How is BRACAnalysis® Performed?
There are two ways to obtain a sample from the patient for analysis: A small amount of blood can be drawn or an oral sample can be taken using a buccal rinse. The sample is sent to Myriad for DNA sequencing analysis of BRCA1 and BRCA2.
How long does it take for BRACAnalysis® results?
Results usually take three to four weeks and are sent to the physician who ordered the test.
If a patient has already had breast cancer, what does a positive BRACAnalysis® result indicate?
Individuals with a BRCA1 or BRCA2 mutation are at a greater risk for developing a new ovarian or breast cancer. Knowing a patient’s BRCA status can help you to develop a management plan to reduce this risk, or detect another potential cancer at an earlier, more treatable stage. Importantly, a patient’s test results may also have significant meaning for the health of his or her family members.
If no one in her family has had ovarian cancer, should a woman with a BRCA1 or BRCA2 mutation still be concerned?
A woman who carries a BRCA1 or BRCA2 mutation is at increased risk for both breast and ovarian cancer—even if there are no known cases of ovarian cancer in the family.
Is BRACAnalysis® appropriate for men?
Any male with a personal history of breast cancer or a significant family history of breast or ovarian cancer may have a BRCA1 orBRCA2 mutation. If a family member has a BRCA1 or BRCA2 mutation, he may have inherited that mutation. Men in this situation should consider testing. Although male breast cancer is rare, men who carry BRCA mutations are more likely to develop breast or prostate cancer. These men also have a 50% chance of passing the mutation on to their children, whether or not they have been diagnosed with cancer.