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Deciding Which Genetic Test to Have

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You’ve probably heard about testing for the BRCA1 and BRCA2 gene mutations, which can pass through families and increase the risk of breast cancer, ovarian cancer, and other types of cancer. Most people who have genetic testing for hereditary breast cancer can expect to have these tests.

The word "mutation" refers to a variation in the DNA that disrupts the function of a gene. Sometimes the word "abnormality" is used instead of "mutation."

Researchers have discovered additional inherited genetic mutations, such as those in the PALB2 and PTEN genes, that can increase breast cancer risk — some as much as the BRCA mutations do. All of these mutations can also increase the risk of other types of cancer. While mutations in PALB2, PTEN, and other genes are less common than BRCA mutations, in some cases it makes sense to test for some or even all of them.

Every person’s genetic risk is unique. A genetic counselor can help you decide which genetic test is right for you. This section offers some general guidelines to consider. It also provides some information about genetic tests you can purchase on your own, and things to consider if you decide to buy your own test.

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