Genetic Screening for Breast Cancer—Is It Necessary?

Breast cancer is the most commonly diagnosed form of cancer in Australian women (and the second-highest overall). You're probably familiar with the standard measures for breast cancer detection. This involves checking your breasts for irregular growths, and mammograms, amongst other methods. Women will receive an invitation for a mammogram when they turn 50, and women younger than this can request a mammogram. This can be advisable when there's a family history of breast cancer. In fact, your maternal family history can warrant additional testing at an earlier age.

Your Mother's Side of the Family

When there has been a history of breast cancer on your mother's side of the family, certain precautionary measures become more relevant. Some women have a genetic susceptibility to developing breast cancer, putting them at a greater risk. Early detection of this risk is possible; schedule a genetic screening appointment to learn more.

Gene Mutation

Screening can identify women with a BCRA (breast cancer gene) mutation. The mutation affects BCRA1 and BCRA2 genes, which help to restrain the development of tumours in the breast. When a mutation is evident, these suppressor genes are inhibited. This doesn't conclusively mean that you will develop breast cancer, although it does mean that there's an increased risk. 

The Screening Process

The genetic screening itself is not intensive. A blood sample (and occasionally, saliva and other tissue samples) will be taken. This is then sent to a laboratory for an analysis of your DNA, which will indicate the presence of the BCRA mutation. What happens if a mutation is present?

Risk Management

When the BCRA mutation is identified, you must discuss your options with your doctor. You and your doctor will devise a risk management plan, and the specifics of this management will depend on your personal circumstances. It may include:

• Regular mammograms to assist with the early detection of cancerous growths.
• Hormone therapy medication may be beneficial. This moderates oestrogen production, as oestrogen promotes the growth of breast cells. It's thought that long-term exposure to oestrogen can lead to cell mutation.
• Preemptive surgical intervention is possible. This can involve a prophylactic salpingo-oophorectomy, which is the removal of your ovaries and fallopian tubes, which in turn removes your body's primary source of oestrogen.
• Some women may opt for a preventative double mastectomy, which is the surgical removal of both breasts. This is followed by the surgical reconstruction of the breasts, utilising breast implants. 

You and your doctor will carefully discuss all these options, and the best form of management will vary from patient to patient.

Genetic screening for breast cancer can be an unsettling proposition, but when there's a material history of the condition, it's very much a case of being as cautious as possible.