BRCA1 and ovarian cancer: what to know

BRCA1 helps cells repair damaged DNA. A pathogenic, or harmful, change can be inherited and can make ovarian cancer more likely to develop. A positive result does not show that cancer is present, and a negative result does not rule out ovarian cancer.

Testing may examine inherited DNA from blood or saliva, tumour DNA, or both. These results answer different questions: inherited testing can have implications for relatives, while tumour testing can help describe the cancer and may guide treatment selection. A variant of uncertain significance is not the same as a confirmed harmful change.

If ovarian cancer has been diagnosed, ask whether both inherited and tumour testing are appropriate and how the result affects medicines, surgery or clinical options. A genetics professional can explain the exact variant, the limits of the test and which relatives may wish to consider targeted testing.

If you have a BRCA1 change but no ovarian cancer diagnosis, arrange an individual risk discussion with a genetics and gynaecology team. Decisions about monitoring, family planning or risk-reducing surgery depend on age, health, reproductive plans and personal preferences. Do not change treatment or schedule surgery based only on a raw laboratory report.

Arrange a medical assessment for persistent abdominal swelling, pelvic or abdominal pain, feeling full unusually quickly, or a lasting change in urinary or bowel habits. These symptoms can have many causes, but persistence or worsening deserves evaluation. Seek urgent help for severe sudden abdominal pain, fainting, difficulty breathing, heavy bleeding or repeated vomiting.

Ask: Was my result found in inherited DNA, tumour DNA or both? Is the variant classified as pathogenic, uncertain or benign? Could it change my treatment plan? Which relatives might benefit from genetic counselling? If I do not have cancer, what risk-management choices fit my circumstances?