Genetic testing for breast cancer: who is it recommended for and what do the results show

Some forms of breast cancer, as well as other types of cancer, arise from a genetically inherited predisposition. Identifying this predisposition can provide valuable information not only for the person being tested, but also for their family members.

Genetic testing for breast cancer can identify pathogenic variants in well-known genes such as BRCA1 and BRCA2, as well as in other genes associated with an increased risk of disease. Doctors recommend this type of testing particularly when a personal or family history suggests a possible hereditary predisposition — for example, when the disease occurs at a young age, or when there are multiple cases of breast or ovarian cancer within the family.

What a positive result means

A positive test does not mean the person will definitely develop cancer; rather, it indicates a higher risk, which may justify enrolling them in a medical monitoring programme tailored to their situation.

In women already diagnosed with cancer, the result of genetic testing may, in certain cases, influence the decision regarding their course of treatment. Furthermore, testing close relatives can help identify those who may need additional preventive measures.