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Genetic Breast Cancer Testing
If you have family members who have been diagnosed with breast cancer it may be worth your
time to find out if the disease is caused by a genetic mutation passed throughout your family.
Women who inherit certain mutated genes have a much greater risk of developing breast and
ovarian cancer. About 5%-10% of all cases of breast cancer are caused by these hereditary
mutations. There are two mutations responsible: BRCA1 and BRCA2. Those who inherit the
BCRA1 mutation have a 55%-65% chance of developing breast cancer by the time they are 70
years old, and those with the BCRA2 mutation have a 45% chance.
The BRCA1 and BRCA2 genes occur naturally in the human body, they are responsible for
creating protein which helps repair DNA. However, when these genes become mutated your
DNA is not able to be fully repaired, which leads to cells developing more mutations which can
then cause cancer cells to form.
Breast cancer tends to develop earlier in life for those with the inherited mutation which is why
many women decide to go through genetic testing to see if they have the mutation, and from
there take preventative actions.
Genetic testing for the mutated gene is only recommended for those who know that the mutation
runs in their family or if you or a family member has been diagnosed with breast or ovarian
cancer at any time in life, especially if it occurred while under 50 years old. The emotional and
financial effects of finding out the results of your genetic test are also something to consider.
A simple blood and lab test can determine whether or not you have the mutation, and even if the
results come back positive that does not mean that you have cancer, just that you are at a higher
risk for developing it. Some women with the mutation never end up having breast cancer.
However, if you are positive for the mutation you may consider getting breast cancer screenings
earlier in life and more frequently. The American Cancer Society recommends that women at
high risk receive screening by both a mammography and MRI, at more frequent intervals than
the average person.
There are even further actions one can take to greatly reduce the risk of developing cancer,
although they should be discussed at great length with your doctor before making any decisions.
Bilateral prophylactic mastectomy is the removal of both breasts in order to eliminate the at-risk
tissue. This type of surgery is not a 100% guarantee that you will not develop cancer, but it does
greatly reduce your chances. Chemoprevention is another method some women may choose to
use in an effort to lower the risk of developing cancer. This method consists of taking FDA
approved drugs and vitamins in the hopes of preventing certain types of breast cancer.
Your doctor will be able to guide you through the different processes and help you to determine
if you are at risk and should receive genetic testing as a precaution.