EXPERIENCE OF SURGICAL TREATMENT OF PATIENTS WITH BRCA1/2-ASSOCIATED HEREDITARY BREAST CANCER

Abstract

Breast cancer (BC) is one of the major health problems of our time. One of the ways to improve the le­vel of BC early diagnostics is to effectively realize preventive work and to properly manage high risk groups of population, especially hereditary BC mutations carriers. Aim: to analyze the experience of the National Cancer Institute in optimizing the surgical treatment of hereditary and familial BC patients (i.e. BRCA1/2-­positive) with the use of risk-reducing and reconstructive surgery. Object and methods: the research sample includes 221 BC patients stage I–IIIC (T1–4N0–3M0) who received special treatment in 2008–2015, and who were recommended to have genetic testing for BRCA1 and BRCA2 mutations. The criteria for engaging in the study were the diagnosis of BC in the age group under 40 years; synchronous or metachronous primary multiple BC; family history of cancer. BRCA1/2 mutations were being detected using polymerase chain reaction method in licensed laboratories. All patients had appropriate special treatment (surgical treatment, neoadvocative or/and adjuvant chemotherapy, radiation therapy) in accordance with national standards. Results: BRCA1/2 mutations were detected in 25 patients (11.3%), which were included to the main group; the control group included other 196 patients. Depending on the BC genetic risk factor all patients were distri­buted as following: primary multiple BC — 60 (27.1%); young age patients — 66 (29.9%); positive family history patients — 95 (43.0%); the distributions of patients in the main and the control group were not different. There was no difference between subgroups by the frequency of BRCA1/2 mutation detection (p > 0.05). In the control group, 55.1% of patients had mastectomy, 44.9% — breast-conserving surgery. In the main group, the state of the contralateral breast was taken into account while choosing the tactics of treatment. In 96.0% of cases, a mastectomy was performed (modified radical or skin/nipple-sparing mastectomy) and only in 4% of patients BCS was performed. All these patients had bilateral surgery. In 88.0% of the cases, the reconstruction surgery was done, using own tissues (20.0%) or implants (68.0%). If necessary, mammoplasty or lipofil­ling could have been done for correction. During 3 years of observation period, the overall relapse rate was 3.2% (main group — 4.0%, control group — 3.1%), the distant metastases rate was 14.0% (4.0 and 15.3%, res­pectively, p < 0.05). In the main group, relapses and distant metastases were found only in the subgroup multiple primary BC patients. While in the control group relap­ses and distant metastases were found in all subgroups. Conclusion: taking into account the world’s practice, evi­dence-based medicine and our own results we can conclude that the most sufficient surgical treatment of hereditary BC (for BRCA1/2 mutation carriers) is bila­teral mastectomy with immediate breast reconstruction.