The role of molecular genetic testing in modern breast health management

Abstract

Defects in the BRCA tumor suppressor genes contribute significantly to the development of breast cancer in South Africa. Additive genetic effects and lifestyle risk factors underlie variable expression patterns in affected families, while also increasing breast cancer risk in the general population. Modifiable environmental factors could determine whether individuals with genetic risk factors develop cancer or fail to respond to treatment. Consequently, there is an increasing demand for genetic testing not only in patients with familial breast cancer, but also in healthy women and patients with sporadic cancer. Today, genetic testing in breast health extends from single-gene diagnostic tests to multi-gene treatment- based tests. For women in whom established breast cancer risk reduction approaches such as surgery and pharmaceuticals are not acceptable or inappropriate, treatment is based on molecular-genetic targets for individualised medical, nutrition and lifestyle intervention. Genetic testing as part of a holistic approach to breast health management translates into individual needs-based risk reduction interventions.