When should I consider genetic testing for hereditary breast and ovarian cancer?
Genetic testing for hereditary breast and ovarian cancer is not needed by everyone. Genetic counselling may be appropriate for a concerning family pattern, a known familial variant or certain personal cancer diagnoses. Counselling explains the test, its limitations and possible implications.
Details
What information helps?
Collect cancer types and ages at diagnosis on both sides of the family, including male breast cancer or ovarian cancer. A result from an affected relative may guide test selection and interpretation. Inherited susceptibility is not limited to the maternal side.
Interpreting the result
A pathogenic change in genes such as BRCA1 or BRCA2 can increase cancer risk, but does not make cancer inevitable. A negative result does not always remove familial risk, and a variant of uncertain significance is not a confirmed positive result.
Before major decisions
An uncertain variant alone should not drive preventive surgery. Discuss surveillance, prevention and implications for relatives with the specialist team. Tumour testing used to choose treatment may differ from testing for inherited susceptibility.
Related reading: When should I start mammograms, and how often should I repeat them?.