Driving breast cancer care: prophylactic mastectomies and the advances in family history clinics

Breast cancer is the most common cancer in women in the UK, with nearly 48,000 new cases each year. The lifetime risk is now 1 in 8.

However for a small number of women this risk is increased. This could be because they have previously had breast cancer, because they have a significant family history of the disease or because they carry a breast cancer causing gene alteration (BRCA1/BRCA2).

There is also a cohort of patients about to undergo a mastectomy for breast cancer for who a prophylactic contralateral mastectomy should be considered. This may be indicated if any of the above has been highlighted but also in younger women with triple negative cancers (Oetrogen, Progesterone and Herceptin receptor negative), as there is no adjuvant hormone therapy option for this type of disease.

Most studies have shown that a prophylactic mastectomy will reduce the risk of developing breast cancer by 90% (1, 2, 3). Failure to completely eradicate breast cancer risk is often attributed to the fact that breast tissue can exist beyond the normal mastectomy plane, such as in the axilla or higher up on the chest wall. There are also concerns that the majority of women in the original studies were not high risk and would not have gone on to develop breast cancer, skewing the relevance of this data. However taken altogether the body of data on the efficacy of prophylactic mastectomy is quite solid. The procedure results in a marked decrease in the risk of breast cancer. 

Calculating an individual woman’s risk of breast cancer is paramount before prescribing a prophylactic mastectomy. Because of this it has become a specialist service in larger breast cancer centers across the UK and Family History clinics have been set up to counsel patients with BRCA 1 and 2 gene mutations. These mutations account for about 5% of breast and ovarian cancers. These individuals have an up to 80% lifetime risk of developing breast cancer and an up to 45% lifetime risk of developing ovarian cancer.

At Guy’s and St Thomas’ Hospital in London any patients identified as high risk are seen in the genetic assessment clinic by a genetic counselor. Here their family and personal history of breast cancer is screened and a family tree plotted. If a risk is detected they are offered genetic testing for BRCA1 and 2 genes. Other minor non-BRCA gene alterations exist that may be causative in breast cancer and if a family history is significant and a BRCA testing is negative a prophylactic mastectomy may still be offered. A family history could be considered significant if:

•  One or more close relatives who have had breast cancer before the age of 40 
•  Two or more close relatives who have had breast cancer 
•  Close relatives who have had breast cancer or ovarian cancer 
•  One close relative who has had breast cancer in both breasts (bilateral) or who has had breast and ovarian cancer 
•  A male relative who’s had breast cancer 
•  Ashkenazi Jewish ancestry

Once a significant risk has been assessed a consultant breast surgeon and a consultant plastic and reconstructive surgeon see the patients. They are also referred to a clinical psychologist. Detailed information is given on mastectomy and immediate reconstruction options. Patients at high risk with breast cancer who are considering a prophylactic contralateral mastectomy are seen in a rapid access clinic and genetic testing is expedited.

BRCA gene carriers are seen in the Family History Clinic at Guy’s Hospital. This is a consultant led one-stop multidisciplinary clinic led by the consultant geneticists. The patients have the chance to be seen by the breast team including the breast surgeon, plastic surgeon and breast care nurse. Breast examinations are done and taught as well as information given on mastectomy and reconstruction. They also see the gynaecological oncologist, the clinical psychologist and for patients with current cancer the clinical oncologist. In addition they see the genetics research nurse if not already recruited into studies. This set up offers several benefits such as consistency and clarity of information, enhancing and speeding up decision making, providing access to psychosocial support and enhancing the patients’ ability to satisfy specific informational and psychological needs within a specific time period. It runs on a monthly basis and sees patients from a wide southeast catchment area. It has proved to be very successful (4).

Similar services are run across the country and are accessible via GP referral. If you have any concerns there is more information on the National Cancer Institute, Macmillan and BreastCancer.org websites.
1.    Hartmann LC, Degnim A, Schaid DJ, Prophylactic Mastectomy for BRCA1/2 Carriers: Progress and More Questions Journal of Clinical Oncology 2004; 22(6):1055-1062 2.    Anderson BO. Prophylactic surgery to reduce breast cancer risk: a brief literature review. The Breast Journal 2001; 7(5):321–330
3.    Hartmann LC, Schaid DJ, Woods JE, et al. Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer. The New England Journal of Medicine 1999; 340(2):77–84
4.    Firth C, Jacobs C, Evison M, et al Novel one-stop multidisciplinary follow-up clinic improves cancer risk management in BRCA 1/2 carriers: patient satisfaction and making. Psycho-Oncology 2011; 20;1301-1308

Victoria Rose