Genetic Testing for Cancer Risk

Approved by the Cancer.Net Editorial Board, 07/2017

Genetic testing helps estimate your chance of developing cancer in your lifetime. It does this by searching for specific changes in your genes, chromosomes, or proteins. These changes are called mutations.

Genetic tests are available for some types of cancer. These include breast, ovarian, colon, and thyroid cancers.

Genetic testing may help:

  • Predict your risk of a particular disease

  • Find if you have genes that may pass increased cancer risk to your children

  • Provide information to guide your health care plan

No genetic test can say whether you will develop cancer for sure. But it can tell you if you have a higher risk than most people.

Only some people with a gene mutation will develop cancer. What does this mean? A woman may have a 45% to 65% chance of breast cancer. But she may never develop the disease. Meanwhile, a woman with a 25% chance may develop breast cancer.

Risk factors for hereditary cancer

A hereditary cancer is any cancer caused by a gene mutation. The following factors suggest a possible increased risk:

Family history of cancer. Having 3 or more relatives on the same side of the family with the same or related forms of cancer

Cancer at an early age. Having 2 or more relatives diagnosed with cancer at an early age. This factor may differ depending on the type of cancer.

Multiple cancers. Having 2 or more types of cancer occurring in the same relative

Reasons to consider genetic testing for cancer

Genetic testing is a personal decision made for various reasons. And it’s a complex decision best made in collaboration. Engage your family, doctor, and genetic counselor in the process.

ASCO recommends considering genetic testing in the following situations:

  • A personal or family history suggests a genetic cause of cancer.

  • A test will clearly show a specific genetic change.

  • The results will help with diagnosis or management of a condition. For example, you may take steps to lower your risk. Steps may include surgery, medication, frequent screening, or lifestyle changes.

In addition, ASCO recommends genetic counseling before and after genetic testing. Learn more about ASCO's recommendations on genetic testing for cancer susceptibility.

Additional factors to consider

Genetic testing has limitations and emotional implications.

Depression, anxiety, or guilt. A positive test result means a gene mutation exists. This result may bring difficult emotions. Some people may think of themselves as sick. Even if they never develop cancer. Negative test results may cause difficult emotions, too. For example, some people may experience guilt if they do not have a gene mutation that other family members have.

Family tension. People may feel obligated to tell family members about test results. And this information could complicate family dynamics. Learn more about sharing genetic test results with your family.

A false sense of security. A negative result means a specific genetic mutation is not present. However, people with negative results may still develop cancer. A negative result only means the person’s risk is average. Additionally, each person’s risk is affected by other factors. For example, lifestyle, environmental exposure, and medical history.  

Unclear results. A gene may have a mutation not linked with cancer risk. This is called a variant of unknown significance. It means that it is unclear whether the mutation will increase risk. Or people may have mutations that current tests cannot find. Many cancers are not yet tied to specific gene mutations. Moreover, some genes may interact unpredictably with other genes or environmental factors. And these interactions may cause cancer. Thus, it may be impossible to calculate the cancer risk.

High cost. Genetic testing can be expensive. It is particularly expensive if insurance does not pay for it.

Discrimination and privacy concerns. Some people fear genetic discrimination from test results. Others worry about the privacy of their genetic information. The Genetic Information Nondiscrimination Act (GINA) protects against employment or health coverage discrimination. Discuss related concerns with a genetic counselor or doctor.

Questions to ask yourself about genetic testing

Before undergoing genetic testing, learn about its risks and limitations. Identify your reasons for wanting a test. And consider how you will cope with test results.

Here are some questions to help you make a decision:

  • Do I have a family history of cancer?

  • Have I developed cancer at an earlier-than-average age?

  • How will I interpret the results of genetic testing? Who will help me use this information?

  • Will the test results affect my medical care? The medical care of my family?

  • If I have a genetic condition, can I lower my cancer risk?

A genetic counselor can help address these questions. This professional can give you advice and information about the risks and benefits of genetic testing. A genetic counselor also helps people through the genetic testing process. Learn more about what to expect when meeting with a genetic counselor.

Related Resources

Understanding Cancer Risk

The Genetics of Cancer

Genetic Testing for Cancer in Families: An Expert Q&A 

Understanding Statistics Used to Estimate Risk and Recommend Screening

More Information

National Human Genome Research Institute: Issues in Genetics