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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 involves taking a sample of blood, cheek swab, or tissue in order to analyze a person’s genes. Genetic testing can be used to determine if someone has a change in their genes (mutation) that make them more likely to develop certain diseases such as cancer. 

BRCA1 and BRCA2 are the most common genes involved in hereditary breast and ovarian cancers. 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. 

Genetic testing can be performed on either a blood or cheek swab sample to tell if a person has one of these mutations. These tests do not detect whether a person has cancer or not; it indicates whether a person carries a change in one of these genes which can increase cancer risk.

Genetic testing can be complex: 

  • Results may affect medical decisions for cancer treatment, screening, and prevention 
  • The decision to undergo genetic testing is a very personal one, and the benefits and limitations depend on your unique circumstances
  • Not all genetic tests are the same: ordering the correct test and accurately interpreting the test results is not straight-forward

For these reasons, it is important to speak with a specialist in cancer genetics—known as a genetic counselor—if you are concerned that cancer may run in your family or if you are interested in genetic testing.

Updated 01/06/2018

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