How do you know if you should be tested for the breast and ovarian cancer gene? Will your insurance pay for the testing? What do the results mean? Should you have increased testing or even surgery to remove your breasts or ovaries? The questions can feel overwhelming.
The first thing you should do is talk with your doctor or a genetics counselor and review your family history. You will want to record every type of cancer that has been in your family, along with the age and sex of each person who had cancer. Of course, your doctor or genetics counselor will want to know about the breast and ovarian cancer in your family. But he or she will also want to know about colon cancer, prostate cancer, pancreatic cancer and melanoma. You will want to make sure you come with a complete list of all the cancers in your family. Your doctor or genetics counselor will also want to know your genetic background. For instance, those of Ashkenazi Jewish descent are more likely to carry the BRCA1 or BRCA2 genes. Once the family history has been completed, your doctor or genetics counselor will let you know whether or not you should have BRCA gene testing and if your insurance carrier will cover the testing.
The next thing your doctor or genetics counselor will want to know is whether any of your family members with cancer have already been tested for the gene. If the affected members have not been tested and are still living, the members with cancer should be tested first. If the family members who have already been diagnosed with cancer are BRCA negative, then the unaffected members of the family do not need to be tested. If the affected family members are positive, then their siblings and children have a 50% chance of also carrying the gene and should be tested. The person with the positive result should provide a copy of the test results to his or her family members so they can be tested more accurately. If the affected family members are no longer living and were not tested or if they are living but will not or cannot be tested, you can still be tested. However, it becomes slightly more complicated deciding what to do with negative results if the affected family member's gene status is not known.
Some people are concerned that they will be penalized by not being able to get insurance or by not being able to get treatment for a "pre-existing condition" if they test positive. This is not the case! The federal laws have been clear on this for many years now. The Federal Genetic Information Nondiscrimination Act of 2008 ensures that you cannot be penalized in any way for being a carrier of any of the genes known to increase your risk of cancer.
If you have gone through counseling by your doctor or a genetics counselor and have been tested, you need to understand what your results mean. Your doctor or counselor should explain this to you in a way that you can understand. Part of that means knowing what the baseline risk of cancer is for all women. If you are a woman, your risk of developing breast cancer in your lifetime is 1 in 8 or about 12%. So, about 12 out of 100 women will develop breast cancer. This is true even if you do not have a family history! Your risk of developing ovarian cancer in your lifetime is 1 in 70 or about 1.5%. That means that 1-2 out of 100 women will develop ovarian cancer.
If you test positive for the BRCA1 or BRCA2 gene, your risk of developing breast cancer is increased dramatically. You have a 40-70% risk of developing breast cancer in your lifetime. It is almost more likely that you will than that you won’t. In addition, your risk of having cancer starts much younger in life. Some women will decide to undergo bilateral mastectomy (removal of the breasts) to avoid this risk. Other woman will simply decide to monitor. Current recommendations are to obtain breast mammogram, breast ultrasound and breast MRI at least yearly in BRCA carriers. The screening should start early, often at the age of 25, and depends partly on the age at which your family member was diagnosed. The breasts can be monitored with good, thorough tests that generally pick up breast cancer in the early stages of disease when it can be treated. Thus, either mastectomy or intensive monitoring would make sense medically and both are valid options.
If you test positive for the BRCA1 or BRCA2 gene, your risk of developing ovarian cancer increases many fold. You have a 10-40% chance of developing ovarian cancer in your lifetime. And again, it is more likely to happen earlier. Ovarian cancer is usually diagnosed between the ages of 55 and 65. Women with the BRCA gene will often develop ovarian cancer at earlier ages. Worse, despite much research, there is currently no good screening test for ovarian cancer and no good testing that reliably picks up ovarian cancer in the early stages. It is usually diagnosed at Stage 3 or Stage 4 when survival can be less than 50%. Thus, current recommendations aim at reducing your risk as much as possible. It is suggested that you have surgery to remove your tubes and ovaries at 40 or as soon as you are done childbearing, whichever comes first. Of course, removing the ovaries will make you menopausal. For young women who are not yet ready to have their ovaries removed, taking birth control pills can decrease your risk of ovarian cancer. There is also more information becoming available that suggests that ovarian cancer begins in the fallopian tubes. So for a young woman who has completed childbearing but who is not yet ready to be menopausal, removing just the fallopian tubes may decrease the risk, leaving the ovaries to be removed closer to a normal menopausal age. Removing the ovaries also decreases the risk of developing breast cancer. Until the ovaries are removed, screening with ultrasound and the blood test for CA125 should occur every six months starting sometime between age 30 and 35, again depending partly on the age at which your family member was diagnosed.
If you test negative for the BRCA1 or BRCA2 gene and your family member with cancer was positive, you can feel confident that you are at the standard general population risk for both breast and ovarian cancer
However, and this is very important, if your family member was not tested or cannot be tested and you are negative, you must still be considered as high risk. Not every breast or ovarian cancer is BRCA gene related. In fact, most breast and ovarian cancers are not BRCA gene related. If your family member had breast cancer but the gene status is unknown and you are BRCA negative, you must consider the family history as "trump" and should be monitored accordingly with high-risk protocols.
If your family member had ovarian cancer but the gene status is unknown and you are BRCA negative, you still must be considered at increased risk for developing ovarian cancer. Just like for breast cancer, family history “trumps” in this case. Again, there is no good monitoring or screening for ovarian cancer. Even the current recommendation of pelvic exams, ultrasounds and blood tests every six months does not increase the likelihood of picking up ovarian cancer early. If you are young and want to bear children in the future, you should consider taking birth control pills to decrease your risk of developing ovarian cancer. If you are young, and have completed childbearing, you should consider having your fallopian tubes removed to decrease your risk. If you are menopausal, you may wish to consider having your fallopian tubes and ovaries removed to decrease your risk
If your family member has cancer but is negative for the gene, your family has a cancer that is either not gene related or related to a gene that is not yet identified. You should be monitored and treated as high risk based on family history. You should talk to your doctor about when you should begin testing and what testing you should have done.
Finally, some people are found to have BRCA mutations of uncertain significance. This can be very frustrating since it is not known if these variants increase the risk of cancer or not. In this case, as in all the cases described above, you should talk to your doctor or a genetics counselor to get advice and information about what your tests results mean for you and how you should be monitored
If you have a family history of breast or ovarian cancer, talk to your doctor about testing and monitoring. You can save your own life!
For more information:
Centers for Disease Control and Prevention
National Cancer Institute
BRCA1 and BRCA2: Cancer Risk and Genetic Testing