There are several testing options available to detect BRCA1 and BRCA2 gene mutations. Most of these tests look for changes in DNA and others look for changes in the protein these genes produce.
For BRCA1 and BRCA2 gene mutation testing, a blood sample is drawn. It can take several weeks or longer for the rests. We recommend genetic counseling before and after a gene test. This usually involves a risk assessment based on your personal and family medical history as well as which tests will be performed. Other items discussed will include the implications of a positive or negative test, the possibility of an informative (or ambiguous) test, the psychological risks and benefits of genetic test results and the risk of passing a mutation to children.
There are currently no standard criteria for recommending or referring someone for BRCA1 or BRCA2 mutation testing. Testing Criteria There are currently no standard criteria for recommending or referring someone for BRCA1 or BRCA2 mutation testing.
If your family has a history breast and/or ovarian cancer, it may be beneficial to first test a family member who has breast or ovarian cancer. If that person is found to have a harmful BRCA1 or BRCA2 mutation, then other family members might be tested as well. Regardless, women who have a relative with a BRCA1 or BRCA2 mutation and women at high risk for breast and/or ovarian cancer should strongly consider testing.
A positive test result generally indicates that a person has inherited a known harmful mutation inBRCA1 or BRCA2 and, therefore, has an increased risk of developing certain cancers.
A negative test result will be interpreted based on whether someone in the tested person’s family is known to carry a harmful BRCA1 or BRCA2 mutation. If someone in the family has a known mutation, testing other family members for the same mutation can provide information about their cancer risk.
An ambiguous, or uncertain, test result shows a change in BRCA1 or BRCA2 that has not been previously associated with cancer in other people.