Harmful changes in either one of the two breast cancer susceptibility genes [BRCA1 and BRCA2] is called BRCA Gene Mutation. BRCA Gene test is a blood test to identify these harmful changes using DNA analysis.
Who is at higher risk of this monster?
Not everyone is at same level of risk of developing this disease. There are few scenarios. One most highlighted and proven reason of being at high risk is that if you have inherited this gene mutation from you parents or grandparents or in family tree of first blood.
BRCA gene mutation is not only related to breast cancer but it can be
involved in ovarian cancer.
BRCA Gene Test:
BRCA Gene test is not commonly performed at the people with
average risk of breast or ovarian cancer. Because this is basically the test for the people who have personal or family history of breast cancer and ovarian cancer.
It’s most often a blood test. A doctor, a nurse or a medical technician inserts a needle into the vein of your arm and draw the blood sample
which is needed for testing. This sample is sent to a lab for DNA analysis.
In some cases other types of samples are collected for DNA analysis, such as saliva. You should discuss with your doctor that you are interested in pursuing saliva test while having a family history of cancer.
Genetic Counseling:
The doctor may refer you to a genetic counselor who can best suggest you to go with what type of sample.
Though genetic testing results are not always clear but it’s proven that if your test result is positive then you carry a gene mutation which increases your risk of cancer and you should take it serious and work with your doctor to manage the risk.
As I say that genetic results are not always clear so it can be negative or it can be vague. A negative result may mean that you don’t have problem of mutation or you may have a gene mutation that doctor haven’t discovered yet. BRCA test can identify a gene variant doctors are not certain about. In this scenario it not sure that you have breast or ovarian cancer risk or not.
Genetic Counseling:
It’s recommended that if you are considering to go for genetic testing you should undergo genetic counseling first.
Here are some pros of genetic counseling:
Reason of BRCA test:
The BRCA gene test is a blood test to determine if there is
any mutation (changes) in you DNA which increase the risk of breast or ovarian cancer.
What is the risk?
If there is a mutation in either of breast cancer gene {BRCA1 or BRCA2} – it can increase the risk of:
Reasons of considering BRCA gene Testing:
As mentioned earlier you can be a candidate for genetic testing
if you have a family history of breast or ovarian cancer. You might be at greater risk of inherited gene mutation.
If you are below age of 45 and have personal history of breast cancer diagnosed.
If you are below age of 50 and have one or more relative with breast cancer, it’s called second primary breast cancer.
If you have unknown or limited family medical history.
If you have a triple negative breast cancer diagnosed at the age of 60 or younger.
If you have a personal history of two or more types or cancer.
If you have a personal history of male breast cancer.
If you have a personal history of ovarian cancer.
If you have a personal history of breast cancer and one or more relatives with breast cancer below the age of 50.
If you have personal history of cancer and two or more relatives diagnosed with breast cancer at any age.
If you have personal history of cancer and one or more relatives diagnosed with ovarian cancer.
If you have personal history of cancer and one or more relatives diagnosed with male breast cancer.
If you have personal history of cancer and two or more relatives diagnosed with pancreatic or prostate cancer.
If you have a personal history of prostate cancer or pancreatic cancer and have two or more relatives with BRCA associated cancers.
If your two or more blood relatives like parents, children or siblings have the history or breast cancer at a young age.
If you have a relative in your family who has known BRCA or BRCA2 gene mutation.
A personal history of breast cancer and Ashkenazi Jewish ancestry ( One in 40 Ashkenazi Eastern European women has a BRCA gene mutation)
BRCA gene mutation test results:
BRCA test results may take a few weeks. It can be positive,
negative or uncertain significance. So you should go to your genetic counselor to discuss the results, their implications and options.
There are some new models developed for reclassification of ambiguous results. Most variants of uncertain significance are eventually reclassified into either a positive or negative result. So, if this happens, stay in touch with the doctor or genetic counselor who ordered your genetic test.
Researchers are working on introducing other sets of gene tests
for more specific output. If your gene test was performed five or more years ago, you might be recommended to go for it under new set of genetic testing.
BRCA gene testing risks:
There are no major physical cons of this test but emotional and social problems are a must.
Let’s point out the risks:
Physical Risks:
Lightheadedness,
Bleeding or bruising of having your blood drawn.
Emotional Risks:
Feelings of anxiety, anger, sadness or depression
Concerns over possible insurance discrimination
Social Risks:
Learning of a familial genetic mutation may develop tense family relationships.
Deciding and adopting preventive measure that can have long-term results.
Fear of future when you’ll have cancer.
If your BRCA gene mutation test result is negative, even then you are uncertain about the result’s authenticity.
Even if you are negative result and its true negative you may have guilt. Because you are negative while your family members have known gene mutation. It’s called survivor guilt.
