BRCA1 and BRCA2 genetic testing

Explanation

BRCA1 and BRCA2 are genes that help cells repair damaged DNA. Certain harmful changes in them increase the risk of several cancers. Testing looks for these changes, rather than simply checking whether someone has the genes.

Does a harmful change mean I have cancer?

No. An inherited harmful change raises cancer risk but does not show that cancer is present or certain to develop. The result can guide discussions about screening, prevention and, in some people with cancer, treatment.

What if the result is uncertain or negative?

A variant of uncertain significance, or VUS, is a change whose effect is not yet clear. It should not be treated as a confirmed harmful variant.

A negative result has different meanings depending on what the test covered and whether a harmful change is already known in the family. It does not remove every cancer risk.

Was the test done on blood or tumor tissue?

A change found in a tumor may have been inherited or may have developed only in the cancer. Further testing can distinguish these possibilities. Genetic counseling helps explain what the result means for you and your relatives.

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