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Genetic Testing for Hereditary Cancer

Learn about genes and cancer, signs of hereditary cancer, genetic counseling, types of genetic tests and what results mean for you and your family.

Genetic testing for hereditary breast and ovarian cancer

About 10% of breast cancer and about 20% of ovarian cancer is considered "hereditary." Hereditary cancers are caused by gene mutations that people can inherit from their mother or father and are present at birth. There are genetic tests that look at blood or cheek swabs to tell if a person carries an inherited mutation in a gene that is associated with cancer.

Genetic test results can affect people's decisions about medical care. For people who have already been diagnosed with cancer, genetic test results may affect their treatment options. Genetic test results also affect the risk for a new diagnosis of cancer. People who test positive for a genetic mutation have medical options for lowering their cancer risk or detecting cancer early when it is most treatable. 

The two genes most commonly responsible for hereditary breast and ovarian cancer are named “BRCA1” and “BRCA2.” These genes can also increase the risk for other cancers, including male breast cancer, pancreatic cancer, prostate cancer, and melanoma. 

Other gene mutations have been discovered that increase the risk for these cancers including "PALB2," "CHEK2," "ATM," "BRIP1" and others. You can read more about these genes here.

Genetic tests known as “multigene panels” often include some or all of the genes mentioned above. Some panels focus just on genes associated with breast and ovarian cancer, while others look at genes that cause many hereditary cancers at the same time. It's important to consult with a health care professional with expertise in cancer genetics to assure that the proper test is ordered and that results are interpreted correctly. 

In certain populations (for example, people of Eastern European Jewish descent) there are specific BRCA mutations called “founder mutations” that occur more frequently. For members of these populations, it may be possible and cost effective to order tests that first look for these common mutations.   

Insurance will usually cover the cost of genetic testing.  See our page on insurance coverage for more information.

In the United States, genetic results are usually available in 2-3 weeks. Under some circumstances—for individuals newly diagnosed with cancer, for whom test results may affect treatment choices—the test can be run more quickly. 

Updated 02/20/17

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