Prophylactic Mastectomy: Who is at high risk?

The decision to undergo a prophylactic (better called risk reduction) mastectomy is not based on any one decision. This procedure is usually accomplished today with an associated immediate reconstruction. Removal of so-called healthy breast tissue creates an intensive debate, amongst both clinicians and women themselves.

With the current recommendations that breast conservation and radiation be the gold standard for stage 1 and 2 breast carcinomas, and the understanding that most women will be alive and well at 5 and 10 years post breast cancer treatment, the concept of removing non-cancerous breast tissue must be studied in detail, with a clear understanding as to the risks and benefits of the procedures offered


The term prophylactic mastectomy is not accurate. Prophylaxis means to prevent, and although with the techniques used for mastectomies today, over 98% of breast tissue can be removed, this is still never 100%. Therefore the correct terminology would be a risk-reducing mastectomy.

A clear understanding of the different types of risk reducing mastectomy procedures that can be offered, the amount of residual breast tissue left with each type of procedure and the resultant different rate of risk reduction.


There are two types of risk reducing surgery

1. Women who wish to undergo bilateral skin sparing mastectomy, with usually immediate reconstruction.

2. Women diagnosed with breast carcinoma who wish to undergo an opposite side mastectomy.

Who is at high risk?

Risk models for predicting high-risk patients are many. Variable predictions and success result in confusion and clinical inability to decide what model to use and when. Models are divided into empiric models or genetic risk models and are beyond the scope of this chapter (JNCI : Comparing Breast Cancer Risk Assessment Models; VOl012, issue 10

Familial “who’s”

About 5-10% of breast carcinomas are thought to be hereditary, and can be inherited from either the mothers, or father’s side of the family. About 20-30% of women with breast cancer have a family member with the disease.

Conversely 70-80% of women who get breast cancer do not have a family member with the disease.

Family history of breast carcinoma in the following circumstances

1. Breast carcinoma in a first degree relative (doubles risk)

2. Especially mother or sister who is premenopausal

3. Having 2 first degree relatives increases the risk 5 fold

4. Family history of bilateral breast carcinomas

5. Father or brother with breast cancer

6. Known BRCA 1 and 2 mutation*

a. These are the most common inherited mutations.

b. BRCA mutations are more commonly found in Jewish women of Ashkenazi (Eastern Europe) descent, they are also found African American women, Afrikaner (Dutch descent), Scottish, Hispanic and can probably occur in any racial or ethnic group

c. BRCA 1 carries up to an 80% chance of developing breast cancer in the patients lifetime, with an increase risk in ovarian cancer as well

d. BRCA 2 has a similar breast cancer risk, as well as a higher risk of developing GIT, malignancies, melanoma and gynaecological malignancies

• The ability to test BRCA 1 and 2 mutations in certain population groups is difficult both from a genetic and financial implication in this country

• Ideally the index case should be tested

• A negative BRCA test in an index case does not exclude a genetic (inherited) breast carcinoma, but merely our inability to detect the causative gene or gene combination

e. ATM gene: this usually promotes damaged DNA repair, and the gene has been documented in certain families with breast cancer

f. CHEK2: This gene is seen in some women with a strong family history, and greatly increases risk when present as it has a twofold risk when mutated

g. Li-Fraumeni syndrome (P53): The p53 suppressor gene is associated with multiple types of cancers such as leukemia, sarcomas, brain tumours and breast carcinomas

h. Cowden’s Syndrome (PTEN): This gene that regulates cell growth, causes increased risk for both benign and malignant breast tumours, as well as tumours of the digestive tract, uterus and ovaries

Genetic testing can be done to look for certain mutations, testing may however not result in positive results even in women with significant family histories and the pros and con’s should be discussed in details with patients

Pathological “who’s”

The following pathological abnormalities predisposing to the development of breast cancer

1. Atypical ductal hyperplasia confers a risk of development of breast cancer that is 3.5. to 5 times that of the reference population. This category includes both atypical ductal hyperplasia and atypical lobular hyperplasia.

2. Lobular carcinoma in situ results in a relative risk for the subsequent development of invasive carcinoma among patients with lobular carcinoma in situ (LCIS) ranges from 6.9 – 12 times that expected in women without LCIS.

3. Sclerosing adenosis (5x)

4. Papillomatosis with and without atypia

Family history and pathological risk factors increase the risk a further 10 fold

Radiological “who’s”

Radiological density has been touted as an independent risk factor for the development of breast carcinoma. The extent of radio-graphically opaque areas on the mammogram are an important measure of the risk of developing breast cancer, with more than 50% of the breast considered dense, this constitutes one of the largest independent single risk factors in a population group attributing to breast cancer development. Although density decreases after menopause, risk is apparent for both premenopausal and postmenopausal women. Factors such as parity, weight and use of Hormone Replacement Therapy influence breast density, but the available evidence suggest that the impact of breast density is independent of other risk factors.

Inability of radiologists to discern changes in breast tissue, may result in repeated core biopsies, and can contribute to a woman’s decision to undergo risk-reducing surgery.

Psychological “who’s”

Significant psychological dynamics occur in women who elect to undergo risk-reducing surgery. All patients considering any risk reduction surgery should be seen by the unit psycho-oncologist.

Factors that require assessment and may play a role in decision-making are as follows:

1. Women who have repeated core needle biopsies, and “difficult “ to assess breast tissue may experience psychological stress when being called in for repeated biopsies or reassessments

2. Death of a family member or close friend from breast cancer

3. Patient anxiety and cancer fear

4. Special emphasis needs to be made about counseling regards decreased nipple areola sensation should nipple sparing mastectomies be performed

5. Assessing the patient’s body image and personality typing prior to the procedure also ensures better patient satisfaction

6. Patients with Narcissistic type personalities are not good candidates for risk reducing surgery

7. The women should have a combined appointment with her partner to determine whether the decision is correct for this patient

8. The psychologist must recap the principles of this surgery, its impact on quality of life, its psychological, aesthetic, sexual, functional and pain repercussions should be addressed

9. It should not and must never be offered in an emergency situation.

10. Multi-disciplinary unit patient counseling involving discussions with other patients and discussions around the reconstruction should occur prior to patients undergoing the procedure.

Aesthetic “who’s”

A small percentage of women, who still elect to go for a mastectomy and no reconstruction, may elect to undergo a bilateral mastectomy for symmetry, particularly if large breasted.

Women undergoing opposite side risk reduction may make the decision based on wanting similar looking breasts (Barbie Doll breasts)

Patient contra-indications for immediate prosthetic reconstruction include women who are smokers; relative contra-indications are patients with conditions resulting in poor blood supply or tissue healing (diabetics, systemic lupus and other connective tissue diseases).

Women who are at higher risk for complications are advised to undergo expander reconstruction

Options for reconstruction also include autologous tissue reconstruction. The most described technique being the use of the DIEP flap, for bilateral risk reducing surgery

Other options include TRAM flap reconstruction for unilateral mastectomies,

Latissimus flap reconstruction can be used for bilateral reconstructions and the procedure is often done as an immediate delayed. Bilateral mastectomies on one day, and Lat flap reconstructions 48hours later.

The appointment with the reconstructive surgeon is made looking at issues around long-term prostheses complications, prosthetic failure and whether the patient would make the same decision should no reconstruction be offered.

General “Who” principles

Prior to a patient consenting to a risk-reducing mastectomy, all other options should be discussed in detail with the patient stressing the following:

1. There is no such thing as an emergency mastectomy, in particular when faced with a decision around risk reduction (once the breast is in the bucket you cant return to sender)

2. Most breast carcinomas once spread to axillary lymph nodes are more likely to reoccur elsewhere in the body, than for a second primary to develop

3. The safety belt of good radiology, mammography, ultrasound, MRI and breast tomosynthesis, will detect 95% of all suspicious lesions

4. Certain medications are available for risk reduction (Chemoprophylaxis)

a. Patients on endocrine therapy for their breast carcinoma have a 50% risk reduction to the opposite breast with regards to developing second primaries

b. Tamoxifen has been well shown in the risk reducing setting to decrease breast carcinoma presentation by 50%

c. Aromatase inhibitors can also be used as risk reducing agents

d. Evista (Raloxifene) class SERM has also been used as an agent to decrease the onset of breast carcinomas in high risk individuals

5. Surgical prophylaxis (bilateral oophorectomy) has been shown to decrease the development of breast carcinoma. The longterm side effects of early menopause with regards to bone and cardiac health must be discussed in detail with patient.

In our next issue we will discuss the “When” aspect of risk reduction surgery.


Prof Carol-Ann Benn heads up breast cancer centres at Helen Joseph Hospital and Netcare Milpark Hospital. She lectures at Wits University and, in 2002, established the Breast Health Foundation.