The genetic basis of Hereditary Breast and Ovarian Cancer (HBOC) is an 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-strained 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.
BRCA mutations are responsible for the majority of hereditary breast and ovarian cancer. Patients with a mutation in either the BRCA1 or BRCA2 gene have risks of up to 87% for breast cancer and up to 44% for ovarian cancer by age 70. Mutation carriers previously diagnosed with cancer also have a significantly increased risk of developing a second primary (new) cancer.
Genetic testing identifies patients who have germline mutations in the BRCA1 and BRCA2 genes. 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.
"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. Red Flags are not intended to be used as a guide for insurance coverage purposes. These 'red flags' include:
*Ovarian cancer
*Breast cancer at age 50 or younger
*Two primary breast cancers*
*Male breast cancer
*Triple Negative Breast Cancer
*Pancreatic cancer with an additional HBOC-associated cancer*^
*Ashkenazi Jewish with an HBOC-associated cancer*
*A previously identified BRCA mutation in the family
*In the same individual or on the same side of the family
^HBOC-associated cancers include breast, ovarian and pancreatic cancer
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 a 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
If BRACAnalysis(R) 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 includes:
*Monthly breast self-exams starting at age 18
*Annual or semiannual clinical breast exams starting at age 25
*Yearly mammography starting at age 25
*Yearly magnetic resonance imaging (MRI) starting at age 25 or individualized based on earliest case in the family
Increased Surveillance for Ovarian Cancer in Mutation Carriers includes:
*Annual or semiannual transvaginal ultrasound
*Annual of semiannual blood test for CA125 beginning at age 25
*Annual pelvic exams
Risk Reducing Medications for Mutation Carriers
*Tamoxifen use has been associated with a reduction of 53% in the risk of a second primary breast cancer in contralateral cancers
*Oral contraceptives, when taken for 6 or more years, have been associated with a reduction of up to 60% in the risk of ovarian cancer
Prophylactic Surgery in Mutation Carriers
*Prophylactic mastectomy reduces breast cancer risk by at least 90%
*Prophylactic oophorectomy reduces ovarian cancer risk by up to 96% and breast cancer risk by up to 68%
FAQ
How long does it take for BRAC Analysis results?
A: Results usually take two weeks and are sent to either the ordering healthcare provider or a designated "mail to" provider identified on the test request form.
Will a patient's health insurance cover the test?
A: Most plans pay for BRACAnalysis with most patients paying less than 10% out of pocket. If the patient's obligations for coinsurance or non-covered services exceed $375, Myriad will directly contact the patient within three business days of sample receipt to discuss options before performing the test. Please note that the $375 limitation does not include any unmet deductibles, which are always the patient's obligation.
Can a health insurance provider discriminate against a patient based on BRACAnalysis results?
A: Federal and state governments recognize the value of genetic information to patients and doctors and have put specific legal protections in place. The Genetic Information Nondiscrimination Act or GINA adds additional protection to existing legal protections that are in place at both the federal and state levels.
GINA is a federal law that protects Americans from being treated unfairly based on differences in their DNA. GINA prevents discrimination from health insurers and employers. Health insurers are prohibited from requesting or requiring an individual or family member to undergo a genetic test or requesting, requiring, or purchasing genetic information, nor can they use an individual's genetic information in setting eligibility, premium or contribution amounts by group and individual health insurers.
GINA also protects individuals from employers requesting, requiring, or purchasing genetic information about an individual employee or family member. In addition, the employer is prohibited from using an individual's genetic information in employment decisions such as hiring, firing, job assignments and promotions.
The Health Insurance Portability & Accountability Act (HIPAA) recognizes genetic information as Protected Health Information (PHI) and specifies protecting its confidentiality. HIPAA further states that "genetic information shall not be treated as a pre-existing condition in the absence of a diagnosis of the condition related to such information," e.g., a diagnosis of hereditary cancer. The Americans with Disabilities Act (ADA) provides additional protections regarding the use of genetic information by employers.
Almost all states have additional laws that protect people from various forms of health insurance and employment discrimination based on genetic information.
If a patient has already had breast cancer, what does a positive BRAC Analysis result indicate?
A: 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: 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 BRAC Analysis appropriate for men?
A: Any male with a personal history of breast cancer or a significant family history of breast or ovarian cancer may have a BRCA1 or BRCA2 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.
