Prophylactic total or simple mastectomy ( subcutaneous mastectomy deserves a separate discussion) for patients at high risk of breast cancer withotu a genetic component is a difficult issue in that it involves the determination of risk in an individual patient, a separate determination of what level of risk is high enough to justify the extreme choice of prophylactic mastectomy, and assurance from scientific studies in the medical literature that this procedure does result in a reduction of breast cancer occurrence. In addition, the approach among surgeons differs from that of medical oncologists. Even if the risk can be estimated, the decision to proceed with a prophylactic mastectomy will be largely patient driven, dependent on whether the patient feels comfortable living with the estimated risk and how she values the psychosexual function of the breast. Although the definition of “high risk” is somewhat arbitrary, the consensus of opinion is that prophylactic mastectomy may be considered only in patients at high risk of breast cancer with a demonstrated BRCA gene mutation or a life-long risk level in excess of 25-30%.
BRCA1 and BRCA2 may be responsible for only 5% to 10% of all breast cancers and about 20% of breast cancers diagnosed in women under age 45. About 50%-60% of women with inherited BRCA1 or BRCA2 mutations will develop breast cancer by the age of 70. Provisional recommendations by the Cancer Genetics Studies Consortium for follow up of individuals with BRCA1 or BRCA2 mutations involve counseling and early breast cancer screening, including annual mammography and clinical breast examination beginning at age 25 to 35 years, and monthly breast self-examination beginning at age 18 to 21 years. A few recent studies have shown that among women who test positive for a BRCA1 or BRCA2 gene mutation, prophylactic surgery at a young age substantially improves survival.
Even among women with breast cancer in their families, the tests for BRCA1 and BRCA2 may be negative 90% of the time, unless a mutation has been previously identified in the family. A negative BRCA1 and BRCA2 test result would mean that a woman still faces the same risk as the general population of developing sporadic, non-inherited breast cancer. However, in such BRCA negative patients, other significant risk factors come into play. A personal history of invasive breast cancer or lobular carcinoma in situ increases the risk of developing a new breast cancer in any remaining breast tissue in either breast by 0.5% to 1.0% per year.
The degree of reduction of risk of breast cancer with prophylactic mastectomy is not well documented in the literature. All studies were observational studies with some methodological limitations; no randomized trials exist. All studies reporting on incidence of breast cancer and disease-specific mortality reported reductions after Bilateral Prophylactin MMastectomies including those with BRCA1 and 2 mutations. Nine studies assessed psychosocial measures; most reported high levels of satisfaction with the decision to have prophylactic mastectomy (PM) but more variable satisfaction with cosmetic results. Worry over breast cancer was significantly reduced after BPM when compared both to baseline worry levels and to the groups who opted for surveillance rather than BPM.
While published observational studies demonstrated that BPM was effective in reducing both the incidence of, and death from, breast cancer, more rigorous prospective studies (ideally randomized trials) are needed. BPM should be considered only among those at very high risk of disease.
Regarding use of prophylactic mastectomy for mastdynia: Pain is one of the most common breast symptoms experienced by women. It can be severe enough to interfere with usual daily activities, but the etiology and optimal treatment remain undefined. Breast pain is typically approached according to its classification as cyclic mastalgia, noncyclic mastalgia, and extramammary (nonbreast) pain. Cyclic mastalgia is breast pain that has a clear relationship to the menstrual cycle. Noncyclic mastalgia may be constant or intermittent but is not associated with the menstrual cycle and often occurs after menopause. Extramammary pain arises from the chest wall or other sources and is interpreted as having a cause within the breast. The risk of cancer in a woman presenting with breast pain as her only symptom is extremely low. After appropriate clinical evaluation, most patients with breast pain respond favorably to a combination of reassurance and nonpharmacological measures. The medications danazol, tamoxifen, and bromocriptine are effective; however, the potentially serious adverse effects of these medications limit their use to selected patients with severe, sustained breast pain. The status of other therapeutic strategies and directions for future research are not defined.
Lostumbo L, Carbine N, Wallace J, Ezzo J. Prophylactic mastectomy for the prevention of breast cancer. Cochrane Database Syst Rev. 2004;(3).
Sakorafas GH, Tsiotou AG. Prophylactic mastectomy; evolving perspectives. Eur J Cancer. 2000;36(5):567-578.
Solomon JS, Brunicardi CF, Friedman JD. Evaluation and treatment of BRCA-positive patients. Plast Reconstr Surg. 2000;105(2):714-7
Smith RL, Pruthi S, Fitzpatrick LA. Evaluation and management of breast pain.Mayo Clin Proc. 2004 Mar;79(3):353-72.
For BRCA carriers see here