What is genetics?
Genetics is the study of genes. Genes make us who we are and make a tumour behave the way it does.
How are geneticists involved in the management of breast cancer?
Each individual person is made up of genes which determine what colour eyes we have, how tall we are and many other factors that make us individuals. Sometimes, they influence how susceptible we are to cancer. In the case of breast cancer, there are several abnormalities that may occur on genes which make the individual more likely to get breast cancer. The commonest ones are the BRCA mutations.
Women with BRCA mutations have a very high life long risk of developing cancer. Depending on which mutation it is, the risk may be between 50-80%. Different mutations carry risks of other malignancies.
Angeline Jolie recently made the headlines when she told the world that she carried a BRCA mutation and had made the decision to have a bilateral mastectomy. I am sure her decision to have the surgery and go public about it took a lot of courage and has inspired many other women however the it is important to emphasise that the diagnosis of a BRCA mutation does not necessarily mean that a bilateral mastectomy should be done.
There is an alternative to bilateral mastectomy, which is secondary prevention. Screening is an example of secondary prevention. Imaging can be used to detect disease at an earlier stage and so minimize the chances of spread of the disease. Generally, breast screening refers to screening mammography, which should start until the 40s or 50s. However, if a woman carries a BRCA mutation and doesn’t want surgery, she should have MRI screening as well as a mammogram.
The cancer itself also has its own genetic make up and that will be discussed in another blog.