Genetic Testing for Breast Cancer

Cancer is a disease of the genes. Most cancers develop as a result of genetic damage or a mutation that happens sometime during a person's lifetime. Genetic testing can be used to look for the gene changes that are linked to these hereditary cancer syndromes in people thought to be at risk for having one of them.

The risk of developing cancer is higher in people who are born with certain genetic defects that are passed on from their parents and found in every cell in their body. Genes come in pairs. One set is passed down (inherited) from your mother and the other set from your father. Genetic risks and potential can come from either parent.

A number of genetic defects can result in an increased risk for cancer. For instance, for breast cancer, the most common defects are found on genes named BRCA1 (breast cancer gene 1) and BRCA2 (breast cancer gene 2). A woman who has inherited a harmful mutation in BRCA1 or BRCA2 is at higher risk of developing breast cancer and some other types of cancer than a woman who does not have the mutation.

Researchers at the National Human Genome Research Institute have developed tests using DNA microchip technology that can distinguish between hereditary (cancer caused by your genes) and sporadic (cancer that occurs by chance) forms of cancer. Today, more than 50 different hereditary cancer syndromes can be identified with genetic testing. This can be done by drawing a blood sample, though sometimes saliva, skin cells, or cells swabbed from the inside of the cheek can be used. As a comprehensive breast cancer care center in NJ, we are able to conduct genetic testing for breast cancer.

Should You Have Genetic Testing for Breast Cancer?

Genetic testing for cancer should strongly be considered in people with all of the following:

• A personal or family history that suggests a hereditary cancer syndrome is present, such as:
  • Cancers have been found at unusually young ages
  • Several close relatives who have had the same kind of cancer
  • One person has had multiple types of cancer
  • Cancer has been diagnosed in both organs when organs are found in pairs, such as both breasts or both kidneys
  • There's evidence of other birth defects that are linked to certain cancer syndromes
  • Other family members have been tested and have genetic mutations that are linked to cancer
  • A genetic test is available and has been proven to be accurate
  • The results of testing can help the person make decisions about medical care

If you are considering genetic testing, talk to a professional about it. It's important to understand the limitations of genetic testing and how the test results might be used before testing. You also need to discuss the costs and whether your health insurance will help pay for testing.

Getting tested can result in complex, emotional issues. If you test positive, you may face difficult decisions about treatments to prevent cancer. You may have increased fear and anxiety about developing cancer. You may have concerns about losing your health insurance coverage. If you test negative, you may also face difficult challenges, such as survivor guilt, if other family members have tested positive.

However, if you are anxious or considering treatments such as preventive surgery based on your family history, having the results may be empowering. Because of these issues, you should seek genetic counseling before, during, and after any genetic testing. Our genetic counselors can talk with you about what a particular test will or will not tell you, and give you insights into the testing process.