| DNA ANALYSIS FOR BRCA1 AND BRCA2 GENE MUTATIONS It is preferable to start DNA analysis by testing a family member who has cancer. Results can be mutation-positive, mutation-negative, or rarely, inconclusive. Inconclusive results generally indicate a change in the DNA, but it is uncertain whether the change is associated with an increased risk for breast cancer or is just a normal DNA alteration present in the family. Both mutation-positive and mutation-negative results have benefits and problems.
MUTATION-POSITIVE RESULT | BENEFITS | PROBLEMS | Resolve uncertainty | Increased fear, anxiety, depression, or guilt | Lead to early diagnosis through increased screening | Make medical decisions more pressing | Identify relatives at increased risk | Affect family relationships (pressure on relatives to get tested, guilt about children, etc.) | Help make decisions about cancer treatment, chemo-prevention, prophylactic surgery | Possible employment or insurance discrmination | Decrease risky health behaviors | Fear of screening for fear of finding cancer | Improve healthy behaviors | |
MUTATION-NEGATIVE RESULT* | BENEFITS | PROBLEMS | Relief | False sense of security; still have background risk for cancer | Cancer risk is similar to general population, normal cancer surveillance | Mary cause some people to stop screening for cancer | Prophylactic surgery may not be needed | Survivor guilt | Children of non-carrier not at increased risk | Altered family relationships |
*A negative result does not completely eliminate the chance that a BRCA1 or BRCA2 mutation is present in the family. There may be a mutation that cannot yet be identified. Or we may be testing the wrong gene: 20% of hereditary breast cancer families have mutations in currently-unknown genes other than BRCA1 and BRCA2.
Material published on this web site is for informational purposes only. Readers are encouraged to confirm the information contained herein with other sources. Patients and consumers should review the information carefully with their professional healthcare provider. The information is not intended to replace medical advice offered by physicians. |
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