Breast Cancer Genetic Testing & Counseling
Does your family have a history of breast, ovarian or pancreatic cancer? Would you like to know your risk of developing these cancers? Genetic testing and counseling from Breast Care Specialists can help high-risk women make more informed healthcare decisions, before cancer has a chance to develop. Early detection, along with proactive medical care, can reduce cancer risk and save lives.
Review this fact sheet to help determine your risk here.
In some families cancer is more prevalent than others. Determining if cancer is related to an inherited gene mutation is important, as the cancer risks in hereditary cancer families are much higher than the general population. The vast majority of hereditary breast and ovarian cancer are due to an alteration or mutation in either the BRCA1 or BRCA2 genes. These genes are human genes known as tumor suppressors. If they are destroyed or damaged – mutations are formed – cancer risk is increased. Not all gene mutations are harmful. These mutations can be inherited from either your mother or father.
If a family has a history of breast and/or ovarian cancer, testing can be very informative, giving you information to pass down for generations to heighten awareness. We recommend testing a family member who has breast or ovarian cancer first. If that person has the harmful mutation, other family members can be tested.
A saliva test or blood sample is needed for these tests, and it usually takes several weeks to get results. Although there are very little medical risks of genetic testing, test results may have an effect on a person’s emotions, social relationships, finances, or medical choices. Test results can affect personal choices such as marriage and childbearing.
We generally recommend genetic counseling before and after a genetic test to help guide patients throughout the entire process.
Your BRCA test could come back positive, negative or uncertain variant.
A positive test
This indicates inheritance of a known harmful mutation and indicates an increased cancer risk. It is important to remember it doesn’t tell whether an individual will actually develop cancer and when. Not all women with a mutation will develop breast or ovarian cancer.
A negative test
If a mutation has been previously identified in a family member, a negative test is not informative. The chance of having cancer is significantly reduced and medical management based on personal and family history of cancer is recommended.
An uncertain variant test
The cancer risk cannot be fully defined. It is recommended the patient undergoes regular testing based on personal and family history of cancer.
Several options are available for managing cancer risk in individuals with a BRCA1 or BRCA2 mutation.
- Increased Surveillance
- Monthly breast self-exams and annual or semiannual clinical breast exams.
- Yearly mammography/MRI beginning at age 25.
- Annual or semiannual transvaginal ultrasound and testing for ovarian cancer beginning at age 25.
- Drugs such as tamoxifen have been shown to reduce the risk of breast cancer in high risk women.
- Oral contraceptives may reduce the risk of ovarian cancer.
- Preventive Surgery
- Preventative mastectomy and removal of ovaries can significantly reduce the risk of cancers in women with the BRCA1 and BRCA2 mutations.
New cancer treatments are available because patients have been willing to take part in clinical trials. Learn more.