Approximately 10–15% of all breast cancers are hereditary, meaning that DNA changes predisposing to cancer are passed from one generation to the next. If you have a strong family history, discuss genetic counseling with your provider. This recommendation is often overlooked. The BRCA genes test is a blood test that uses DNA analysis to identify harmful changes (mutations) in either one of the two breast cancer susceptibility genes BRCA1 and BRCA2.
Identifying hereditary risk allows individuals to be proactive with early detection and prevention, and is important for targeted treatments for cancer.
The technology of genetic testing has dramatically changed since the BRCA genes ( BRCA 1 and BRCA2) were identified in 1994–1995. Many other genes have been identified that increase the risk of breast cancer and other cancers, and testing of these genes has become simpler and less expensive. “Multi-gene panel tests” of cancer genes detect a change other than BRCA ~5% of the time. Many people will need to return for gene panel testing if BRCA testing was negative in the past.
The best time to get genetic testing performed is BEFORE you develop cancer if there are signs in your family that suggest a genetic link. If you know that there is a genetic mutation in the family, find out if you carry it.
As with any test, learn about potential risks. Most tests are completed with a simple saliva or blood test. The risks associated with genetic testing are emotional, social, and financial. While the federal Genetic Information Non-Discrimination Act (GINA) passed in 2008 protects from healthcare and job discrimination on the basis of genetic information, this does not apply to life insurance, disability insurance, or long-term care insurance. Choosing to undergo genetic testing is a decision that should be made with a thorough understanding of the test and the support of your health care team.
Preparation
Prepare for your appointment with a genetic counselor. Gather your complete family history and get copies of any genetic testing reports from family members. Come prepared to ask questions so that you fully understand the benefits and potential concerns surrounding genetic testing.
Results
A positive result means that a mutation was detected and associated with an increased risk for the development of cancer. Mutations in different genes are associated with varying different levels of breast cancer risk and also different risks of other cancers.
Negative results depend on what is known in the family genes. For example, if there is a known BRCA mutation in the family, and you test negative, this is a TRUE NEGATIVE, meaning that you did NOT inherit the mutation, and your risk returns to that of the population. If you do not have cancer, and someone close to you is considered “high risk” for a genetic mutation and is unable or unwilling to test, a negative result is UNIFORMATIVE, because the genetics of the high-risk person is not known. The best person to TEST is a person who is a cancer survivor. Interpretation of the results is important.
Remember, most cancer is NOT hereditary. Do not be falsely reassured by an UNINFORMATIVE negative test. You may still benefit from more sensitive screening (such as with breast MRI in addition to the screening mammogram) and from medications that reduce your risk. Talk to your health care team about the meaning of your results and get their recommendations!
Who should get BRCA Genes tested?
The best genetic screen is a careful extended family history, updated yearly, to include relatives on BOTH sides of your family.
Remember, you get half of your genes from your father. If you or a close family member have any of the following risk factors, you may be a candidate for genetic testing:
- Breast cancer diagnosed at age 50 or younger
- Triple negative breast cancer diagnosed at age 60 or younger
- Two separate breast cancers
- Ovarian cancer at any age
- Male breast cancer
- Pancreatic cancer
- Metastatic prostate cancer
- Known family history of a genetic mutation
- Ashkenazi Jewish ancestry, with a close relative who has breast, ovarian or pancreatic cancer at any age
What if you carry a BRCA mutation?
The most common cause of hereditary breast cancer risk is a BRCA mutation; giving a woman the diagnosis of Hereditary Breast and Ovarian Cancer syndrome. Not everyone with a genetic mutation will develop cancer. There is a 70% lifetime chance of developing breast cancer and up to a 44% chance of developing ovarian cancer. Cancers also occur much earlier. The average age of diagnosis of breast cancer in the general population is 62, but with a BRCA mutation, it is 42.
A woman with a BRCA1 mutation has a 40% chance of developing breast cancer by the age of 50; and it is usually the “triple-negative” type, which is the most rapidly growing and the most difficult to treat. With BRCA2, there is a 30% chance of developing breast cancer by the age of 50.
Women age 25–29 receive an annual breast MRI; and at 30 are recommended to have both an MRI and mammogram annually, often on an alternating schedule. So Medications are available to reduce both breast and ovarian cancer, and risk-reducing surgery is also discussed. Ovarian cancer screening is not sensitive enough to find cancer.
Early, so surgery is recommended, for women with BRCA 1 mutations, the removal of the fallopian tubes and ovaries is around age 35–40 and for women with BRCA 2 mutations age 40–45.). There is no “right age” for risk-reducing or prophylactic mastectomy, and it is a very personal decision. Screening with mammograms and MRI DOES often identify cancers at their earliest, most treatable stage, and many women with BRCA mutations in the United States choose “being watched.”
Discovering you are a carrier of the mutation gives you the opportunity to work with your health care team to design a risk management strategy designed to detect cancer in its earliest stages or to prevent it altogether.
Conclusion
If you are concerned, you are at a higher risk of developing breast cancer; discuss it with your health care provider. See a genetic counselor learn more about breast cancer genetics and see if testing is recommended for you. Knowledge is power. Know your risks, and take charge.
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