Genetic Mutations

When an individual is diagnosed with breast cancer, it can either be caused by genes that have misfired sometime in your life, leading to the disease, or the cause is hereditary. This means that the breast cancer was caused by a mutation in a gene that has been passed down from a parent. While there are many gene mutations that may lead to breast cancer, BRCA 1 and BRCA 2 are the most common genes that are associated with hereditary breast cancer.

BRCA 1 and BRCA 2

Both BRCA 1 and BRCA 2 are genes that create proteins that help to repair damaged DNA. Every individual has two copies of each of these genes, with one copy inherited from each parent. BRCA 1 and BRCA 2 are also known as tumor suppressor genes because when they have certain mutations, cancer can develop. Individuals who inherit harmful variants in one of these genes have an increased risk of different cancers, particularly breast and ovarian cancer. These individuals also tend to develop cancer at younger ages than those without the variants.

There is BRCA 1 and BRCA 2 mutation testing available, which can help to detect these genes in yourself and family members. For those who test positive for BRCA 1 or BRCA 2, there are several steps that can be taken to reduce cancer risk. These include enhanced screening, risk-reducing surgery (prophylactic surgery), and chemoprevention.

What is Prophylactic Surgery?

Prophylactic surgery involves the removal of as much “at-risk” breast tissue as possible. Individuals may choose to have one or both breasts removed to reduce their risk of developing breast cancer. Women may also choose to have surgery to remove their ovaries and fallopian tubes to help reduce the risk of ovarian cancer. It is important to understand that these surgeries cannot be reversed, and should be considered thoroughly before making a final decision. While this surgery can reduce the risk of developing breast and/or ovarian cancer, it does not guarantee that you will not develop it, since it is impossible to remove all at-risk tissue. However, for women with the BRCA 1 or BRCA 2 gene mutation, prophylactic mastectomy can reduce the risk of developing breast cancer by 90-95%. Following prophylactic surgery, patients can then go on to undergo BREAST RECONSTRUCTION SURGERY if desired.

Deciding on whether prophylactic surgery is right for you is best done alongside a highly experienced board-certified plastic surgeon such as Drs Kurtovic and Mahabir. The decision should not be urgent, and you should give yourself adequate time to weigh all of the pros and cons that are associated with the procedure.