Risk Reducing Surgery
Indications For Risk Reducing Prophylactic Mastectomy
The most common indications for risk reducing surgery or (risk reducing prophylactic mastectomy) is the presence of BRCA1 or BRCA2 gene mutations, or a very strong family history of breast cancer (even without positivity of BRCA1 and 2). Another indication for risk reducing prophylactic mastectomy are having previously had breast cancer and undergone mastectomy, where the patient wishes to have a mastectomy on the other side to reduce the risk of developing another breast cancer.
A family history of breast cancer in first relatives is a strong risk factor. Due to a high incidence of the disease, particularly in western nations, it is not uncommon for women to have a family history of breast cancer. However, the entity known as hereditary breast cancer affects only a small proportion of all women who have had such a diagnosis.
Thus, the vast majority of women who have had breast cancer or who have a family member who had breast cancer do not harbour an inherited predisposition to this disease.
Approximately 7 to 11% of breast cancer patients in the general population are believed to have an inherited basis for their disease. Most of these cases are attributed to mutations in the BRCA1 and BRCA2 genes, which were cloned in the mid-1990s.
High Risk Families With or Without BRCA 1 & BRCA 2 Mutation
Individuals with a strong family history of breast cancer are referred to family history clinics and in most of the instances they are offered genetic testing to detect any known genes responsible for breast cancer. Patients who are found to be positive for BRCA 1and 2 are seen by experts in the field of genetic breast cancer. Options of further management is discussed in detail in several sittings if required.
Sometimes despite a very strong family history of breast cancer, BRCA1 and BRCA2 mutations are not identified. However, women in such families are still at a substantially elevated risk of breast cancer.
For example, in families with three or more cases of breast cancer, or two or more cases diagnosed less than age 50 years in which no known familial BRCA 1 & 2 mutation has been identified, women have a four-fold increase in breast cancer risk but no elevation in the risk of ovarian cancer.
Other genetic conditions which predispose women to breast cancer are Li-Fraumeni syndrome, Cowden syndrome, Peutz-Jeghers and other rare syndromes.
Assessment For Risk Reducing Surgery
When these women are seen with such a strong family history in the clinic they are usually referred to a family history clinic where they get proper assessment, and if required they would also be referred to a geneticist for assessment of genetic risk and genetic testing for the presence of BRCA1 & BRCA2.
If the genetic testing reveals that a patient is positive for BRCA1 or BRCA2 mutation, further management is discussed in the clinic including referral to a surgeon and various options are discussed.
Options Available For Risk Reducing Surgery
1. Chemo Prevention
Data from three large studies – NANSABP1 Breast Cancer Prevention Trial, International Breast Cancer Interventional Study (IBIS1), and the Study of Tamoxifen and Raloxifene (STAR) – showed that the use of tamoxifen and raloxifene for 5 years reduces the risk of progesterone positive cancer in healthy women by roughly 30 – 45%.
2. Prophylactic Risk Reducing Mastectomy
Bilateral mastectomy may be a consideration for women with a higher risk of breast cancer specially those with an identified hereditary predisposition to this disease attributable to the presence of genes such as BRCA1 & BRCA2 and TP53.
Studies including women of various risk levels have consistently demonstrated substantial breast cancer risk reduction associated with this surgery.
For example, a retrospective cohort study of 639 women who had a moderate to high risk of breast cancer showed that risk reducing bilateral mastectomy reduces the risk of subsequent breast cancer by at least 90%.
Based on recent data on patients undergoing surgery for hereditary predisposition, subcutaneous bilateral risk reducing mastectomy, total mastectomy and increasingly skin sparing mastectomy were the procedures of choice and in most of the instances this was followed by bilateral breast reconstruction. It is highly recommended that these patients be seen and managed by surgeons with expertise in the field of reconstruction, thus providing a wide range of reconstructive options to the patients.
If a patient wishes to proceed with bilateral risk reducing mastectomy, reconstruction options are discussed in great length with the patient in the presence of a close friend or a relative. These reconstructive options include either using patient’s own tissue, which is also known as autologous reconstruction, or reconstruction using breast implants and at times adium (Strattice), which is called heterologous reconstruction.
Mr. Ahmad has extensive experience in performing bilateral risk reducing mastectomy for patients who have either a very strong family history of breast cancer and have decided to proceed with bilateral mastectomy after proper consultation, or patients who have tested positive for BRCA1 or BRCA2.
Mr. Ahmad discusses these options on several occasions in his reconstructive clinic and goes through every small detail of the procedure, answering all possible questions from patients and their relatives.
Mr Ahmad offers the following types of breast reconstruction to his patients:
- Latissimus Dorsi reconstruction
- Pedicle TRAM
- Lower sling and implant based reconstruction
- Strattice-based implant breast reconstruction
However other options are also discussed in detail.
Mr. Ahmad provides risk reducing prophylactic mastectomy and reconstruction at both at his private clinic and NHS practice.