BRCA mutations increase the likelihood of developing breast cancer, but genetic testing can identify the mutation. BRCA1 and BRCA2 are the genes associated with breast cancer, and testing is recommended for those with a family history of breast cancer or a BRCA mutation. Testing is accompanied by genetic counseling to discuss preventative measures.
A BRCA mutation is an irregularity in the breast cancer gene (BRCA) that can make someone more susceptible to developing breast cancer. BRCA mutations don’t guarantee that someone will develop breast cancer, but they make cancer much more likely, and a mutation can be an indicator that some preventative measures should be taken to reduce your risk and identify cancer early if it emerges. Genetic testing can be used to determine whether or not a defect is present on this gene.
Two genes have been associated with the development of breast cancer: BRCA1 and BRCA2. Both belong to a class of genes known as tumor suppressors, and defects in these genes appear to make people less able to suppress tumors on their own. In the case of BRCA1 and BRCA2, the specific mutation makes women and men vulnerable to developing breast cancer, although breast cancer in women is much more common.
BRCA1 is found on chromosome 17, while BRCA2 is found on chromosome 13. In genetic testing for the presence of a BRCA mutation, a small sample of blood is taken and analyzed in a laboratory to look for the mutation. Genetic tests for other mutations are also available, the cost of which usually increases with the number of tests that need to be done.
BRCA mutation testing is not recommended for everyone, as it can be very expensive. Women who have a family history of breast cancer, especially in their mothers, or a family history of a BRCA mutation, should get screened for the BRCA mutation. A family history of cancer in general, especially early-onset cancer, is also an indicator that a screening test might be advisable. This mutation can also appear spontaneously, and some doctors recommend BRCA testing after women have been diagnosed with breast cancer, to determine whether or not a BRCA mutation was involved.
There are two things involved in testing: testing and testing and genetic counseling. Genetic testing is often accompanied by a counseling session to discuss the ramifications of the test. In a BRCA test, for example, the presence of a mutation does not indicate that the subject has cancer, or even that cancer will develop, it only suggests that there is a greater likelihood, in which case frequent breast cancer screenings or breast screening that start at an earlier age than usual may be recommended. In extreme cases, women may opt for preventive mastectomies or medications in an attempt to prevent breast cancer from developing.
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