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What is genetic testing?

Genes are contained in DNA.  DNA is the blueprint that tells cells what to do and how to create everything in the human body. Sometimes there are errors in the DNA that can cause malfunctions in the cells, and even lead to cancer. Genetic testing looks for mutations or errors in the DNA.

Why does it matter?

If there are mutations in the DNA, they can sometimes increase a person’s risk for developing cancer. If we identify a mutation, we can do screening tests that can decrease the person’s risk of developing cancer or identify cancer at an earlier, treatable stage.

What is a gene mutation?  
A gene mutation is an abnormality in the DNA.  Sometimes these mutations can increase a person’s risk of developing cancer.

Why should I get tested?
If you get tested and a mutation is identified, then you will know that you are at increased risk of developing certain cancers.  You can then take actions to prevent cancer or catch a cancer at an earlier, treatable stage.

Can you be at risk at any age?
The mutations are present from birth, but often, the risk of developing cancer increases with age.  With the most common mutations, the risk of developing cancer starts to rise in early adulthood.

Why are some people at higher risk of getting Cancer?  
There are multiple reasons why some people are at higher risk of developing cancer.  Cigarette smoking is a known risk factor for developing cancer. There are other environmental causes of cancer.  However, one of the risk factors for developing cancer is genetic.  Identifying a genetic cause can help direct screening and other preventive measures so that cancer can be prevented, or caught at an earlier, treatable stage.

Can a male have breast and ovarian cancer syndrome?   
Yes. Men can have breast and ovarian cancer syndrome. Breast and ovarian cancer syndrome means that there is an abnormal gene that would increase your risk of developing certain cancers. Men do not have ovaries and cannot develop ovarian cancer. They do have some breast tissue and have a slight risk of developing breast cancer. In addition, there are some other cancers that they would be at higher risk of developing, such as pancreatic and prostate cancer. They can pass this abnormal gene to their children.

If I have a mutation will I get cancer?  
No.  Having a mutation just allows you to know your risk of developing cancer.  With some mutations, there may be an 80% chance of developing cancer.  But that means that you have a 20% chance of NOT developing cancer.  Other mutations may carry a risk of a 20% chance of getting cancer.  That means that you would have an 80% chance of NOT getting cancer.  Knowing whether you have a mutation just allows you to know whether you are at increased risk for developing cancer.  It allows screening and other measures to decrease that risk.  But just having a mutation does not mean that you will get cancer or that you will die from cancer.  In fact, knowing that you have a mutation may allow you to prevent yourself from getting cancer.

If I test positive, what does that mean for me? (Treatment, screening, surgery, etc…)
If you test positive, then you can understand which cancers you are at increased risk for and what your risk is.  You can then have screening tests done to identify precancerous lesions or early cancers, that are at a treatable stage. In addition, there are times when surgery can be performed to prevent cancers from developing in the first place.  Patients who are positive for mutations should speak with their healthcare providers and genetic counselors to determine what options are available and best for them.

I test positive for Lynch Syndrome, how often should do I have to get screened (COL/EGD)?
Lynch syndrome increases a person’s risk for developing colon, uterine and ovarian cancer. There is also a slightly higher risk for some other cancers including gastric cancer. In general, patients with Lynch syndrome should have colonoscopies every 1-2 years and upper endoscopies every 2-4 years. There are national guidelines about how frequently screening should be done. These decisions need to be made in consultation with your Gastroenterologist and other healthcare providers.

If I test positive, should my children get tested?
Testing positive is extremely important for your entire family. That means that your parents, brothers, sisters, aunts and uncles, nieces and nephews and children could all have that same abnormal gene. It is important for all your relatives to get genetic testing. We usually wait until children are at least 18 years old to offer genetic testing. Most hereditary cancer syndromes do not cause cancer until adulthood. Waiting until a child is at least 18 years old, gives them to time to develop the maturity to understand the implications and consequences of genetic testing.

Can the gene be passed down from both mother and father?
Everyone has 2 sets of genes. One set comes from the mother and one set comes from the father. Therefore, people can get an abnormal gene from both their mother and their father. If a woman’s father had the gene for breast and ovarian cancer syndrome, that woman would have a 50% chance of inheriting that gene from her father.

What does a genetic test involve?
What exactly are they looking for? Genetic testing is quite easy. The genetic testing can either be done from saliva or from blood. The saliva can be obtained from spitting into a cup and the blood from a simple blood test. Running the genetic test is more complicated. Laboratories take the saliva or blood and analyze the DNA. They can determine whether certain mutations are present, and if a person has a hereditary cancer syndrome.

How accurate is genetic testing?
Genetic testing is quite accurate. If a mutation is identified, then the accuracy of the test is quite good. If there is a known mutation in your family, and you test negative, then that result is also very accurate. However, there are some families where cancers are very common, but no genetic cause is identified. Research is ongoing, to try to identify the cause of cancer in these families.

Can my PCP test me for gene mutations?
Healthcare providers are increasingly becoming aware of the risk that genetics plays in developing cancer. Many of these healthcare providers are getting advanced education in cancer genetics. These providers can order genetic testing.

How expensive is genetic testing? Does my insurance cover it?
There are currently standard guidelines for determining who should get genetic testing. Most insurance companies do cover the cost of testing, if the patient meets guidelines. There are several different labs that offer genetic testing, and the price does vary between labs. It is important to talk to your health care provider or genetic counselor to determine if you meet criteria for genetic testing and what the cost to you would be.

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