What to expect from BRCA genetic testing for a BRCA gene mutation

BRCA1 and BRCA2 are genes involved in repairing damaged DNA. A pathogenic change can increase inherited risk for certain cancers, but a test result does not by itself say that you have cancer. A genetic counsellor reviews your personal and family history, explains what the test can and cannot answer, and discusses privacy and possible effects on relatives.

Results may identify a harmful change, find no harmful change in the genes examined, or report a variant whose meaning is not yet clear. A result that needs interpretation is considered alongside your family history and, when appropriate, testing of a relative. The report belongs to your medical record and should be explained in a clinical appointment.

Before testing, write down cancer diagnoses in close relatives, including the type of cancer and approximate age at diagnosis if known. Bring previous genetic reports and ask whether testing an affected relative first would make the result easier to interpret. Check whether the sample is blood or saliva and whether you need to avoid food or drink. Do not make screening or preventive surgery decisions from a result alone; arrange a follow-up discussion about tailored options.

Genetic testing is not an emergency procedure. Contact the counselling team if receiving the result causes distress, if you are unsure how to share it with family, or if a report uses unfamiliar terms. Seek usual medical care for any new symptom or cancer concern; a genetic result should not delay assessment of a lump, bleeding, persistent pain or another change.

Ask which genes and variants are included, whether the result could change screening or treatment, how relatives may use the information, what a variant of uncertain significance means, and who will explain the report after testing.