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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.

Overview

Between 10% and 20% of many common cancers are considered "hereditary." Hereditary cancers are caused by gene mutations that people are born with; passed down to them from either their mother or their father.

Genetic testing for inherited gene mutations

Laboratory tests can tell if a person carries an inherited mutation in a gene linked to cancer. 

There are many different types of genetic tests for inherited mutations. Tests may differ in the following ways:

  • Genes being tested
    • Some tests look for one or a few specific gene mutations. Another type of test, known as a multigene panel test, looks for mutations in many genes all at the same time. Most labs offer tests for a single gene and tests for multiple genes. When ordering genetic testing, it's important to understand which genes are being tested for inherited mutations. For information on specific genes linked to hereditary cancers, visit this page
  • Laboratory
    • Many different labs offer genetic testing. It is important to use a reputable lab that is certified by the College of American Pathologists (CAP) or Clinical Laboratory Improvement Amendments (CLIA). You can view a list of reputable labs here.
  • Testing method
    • Labs may use different methods to test for inherited mutations. The testing method that is used by a lab may affect the cost, how reliable the results are, and how long the test takes. 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. 
  • Cost
    • The cost of a genetic test may differ depending on the lab performing the test, the type of test ordered, health insurance coverage, and patient eligibility. Insurance will usually cover the cost of genetic testing.  See our page on insurance coverage for more information.
  • Source of DNA sample
    • Genetic testing may be performed on blood or a cheek swab (saliva), both methods are reliable. 

Types of inherited gene mutations

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

The five genes most commonly responsible for hereditary colorectal and endometrial cancer are also known as Lynch Syndrome genes. Mutations in these genes can also increase the risk for ovarian, stomach, pancreatic and other cancers. Mutations in two of the Lynch Syndrome genes have also been linked to increased risk for breast cancer. 

Other gene mutations have been discovered that increase the risk for these cancers including PALB2CHEK2ATMBRIP1 and others. You can read more about these genes here.

Getting expert advice

All the different factors above can make the process of ordering genetic testing complicated. And 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. For these reasons, it is important to speak with a genetics expert if you are interested in genetic testing or if you think that cancer may run in your family. 

Updated 02/08/2020

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