Hollywood actress and humanitarian campaigner Angelina Jolie’s recent disclosure to The New York Times that she had a double mastectomy to reduce her high risk of breast cancer has created increased awareness locally about the genetics of the disease and preventive surgery. Gordon Caruana-Dingli provides more information and puts the subject into the local context.
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Breast cancer is the most common cancer in Malta and the incidence is increasing, reaching 350 new cases every year. More than half of affected women are over 60 years old, a quarter are between 50 and 60, and a quarter are younger than 50. The good news is that treatment has become much more effective and survival rates are increasing. Also, the mutilation from treatment is decreasing.
The majority of patients discover they have breast cancer when they feel a lump in their breast, with less than 10 per cent being diagnosed by screening. The majority of these women do not have a genetic abnormality, and in Malta only five per cent get breast cancer because of an inherited genetic malformation.
BRCA 1 and 2 are human genes known as tumour suppressors. In normal cells they ensure stability of the cell’s DNA and prevent uncontrolled cell growth. When they mutate they increase the risk of getting breast and ovarian cancer at a young age to about 80 per cent.
95 per cent of breast cancer patients do not have genetic mutations
Even though breast cancer is rare in men, it becomes much more common in those who inherit these gene mutations. The likelihood that a breast cancer is due to a gene mutation is highest in families where many women have developed breast or ovarian cancer at an early age. Genetic tests are available to check for these gene mutations from a blood sample.
However, this should only be done after a risk assessment based on the personal and family medical history and after appropriate counselling, explaining the appropriateness of testing, the accuracy of the test and especially the implications to the patient and her family and even future generations.
The genetic testing is usually first performed on one of the relatives who has developed breast cancer to determine whether she has a genetic mutation, and if this is positive, family members can be tested for the same mutation.
Women who test positive would have already been counselled that they have a choice between early detection by screening or prevention with the use of medication or surgery. Screening for breast cancer makes use of mammography, but this is not very effective in this age group, and MRI might be a more sensitive screening tool.
Screening aims at detecting a lesion at an early stage to make treatment more effective; however, it does not prevent breast cancer. Breast cancer cannot be prevented completely but the use of Tamoxifen tablets has been shown to decrease the rate of developing the disease by 50 per cent.
Actress Angelina Jolie opted for risk reduction surgery where a mastectomy was performed on both sides. During the operation, the breast tissue was removed while the skin and the nipple areola complexes were preserved. The breast tissue was then replaced by silicone implants. In this particular case the operation was performed in stages and temporary expandable implants were used initially and they were later replaced by permanent ones to ensure the best possible cosmetic result. This operation decreases the risk of breast cancer by 95 per cent because that is the percentage of breast tissue that can be removed.
Genetic testing and risk reduction surgery are available in Malta, however, it is important to emphasise that patients must be counselled about the repercussions of testing and that this is major surgery with potential complications.
As explained above, 95 per cent of breast cancer patients do not have genetic mutations. Of these, some 10 per cent do not have symptoms and are detected by screening. The majority discover they have cancer when they feel a lump, detect changes in the skin or have an inverted nipple or bleeding from the nipple. These patients are examined clinically and are imaged by mammogram, ultrasound or MRI and have a biopsy. Each case is discussed at a multidisciplinary meeting where a specific treatment plan is tailored to each individual.
In most cases the management includes surgery. In the past, this usually meant a mastectomy, where the breast was removed, leaving a flat chest with the obvious cosmetic and psychological implications. In more recent times, while mastectomy is still often needed, most patients undergo breast conservation operations where the tumour is removed and the breast is preserved. This has now evolved into oncoplastic surgery, where the operation is planned using plastic surgical techniques to ensure the best possible cosmetic outcome while ensuring optimal tumour excision.
The importance of this approach is increasingly recognised, especially as the number of breast cancer patients is increasing and as their survival rates are increasing. Patients who are undergoing mastectomy also have the possibility of achieving a satisfactory cosmetic outcome when breast reconstruction operations are performed either by using silicone implants or by mobilising skin from other parts of the body.
Surgery has a vital role in both the prevention and treatment of breast cancer. When it is designed to optimise the cosmetic outcome it not only prolongs life but it also improves the patient’s quality of life.
Mr Gordon Caruana-Dingli is a consultant surgeon and heads the breast clinic at Mater Dei Hospital.