Okamžitá rekonstrukce prsu u nosiček BRCA 1 a BRCA 2 mutace

Title in English Immediate breast reconstruction in BRCA 1 and BRCA 2 mutations


Year of publication 2022
Type Conference abstract
MU Faculty or unit

Faculty of Medicine

Description It is known that women with mutations in the BRCA 1 and BRCA 2 (BReast CAncer) tumor suppressor genes have a significantly increased risk of developing breast cancer, the most common cancer in women, compared to the general population. Tumors occur at a younger age, they are bilateral and multifocal. The lifetime risk of developing breast cancer in a woman with a congenital BRCA 1 mutation is 85%, in the BRCA 2 mutation it reaches 60-80%, against a cumulative 8-10% risk in the population. The most effective prevention of breast cancer in BRCA mutations with a high genetic risk is the complete surgical removal of the breast. Prophylactic mastectomy is mainly performed within the concept of immediate reconstruction. The postponement of the reconstruction is related to an unclear finding requiring a definitive histological examination. Methodology and results: The treatment procedure for BRCA mutation carriers depends on the detection phase of the genetic mutation. In case of early detection before the development of a malignant disease within the screening examination of family history and on the basis of subsequent genetic analysis, women are treated and prophylactic bilateral mastectomy is recommended. The recommendation of current or delayed prophylactic adnexectomy up to 45 years of age is related to the patient's reproductive plans. The method of choice is a skin-saving mastectomy with immediate breast reconstruction at one time. In women diagnosed with the BRCA1,2 mutation only after the detection of breast cancer, the primary therapeutic procedure depends on the progression of the tumor according to the general recommendations. Patients with early breast cancer after breast-sparing and completion of adjuvant chemotherapy and radiotherapy are indicated for bilateral breast ablation with concomitant reconstruction. Results: In the period April 2017 - May 2020, GPK MU and FN Brno performed 103 reconstructive surgeries on 58 women with breast cancer and / or BRCA mutations. In the subset of immediate mammary reconstructions, 52 procedures were performed (50.5% of reconstructive surgeries) in 48 women (82.8% of the operant group) with advanced breast cancer and / or BRCA1 / 2 mutations. The mean age was 48.2 ± 9.6 years. A tissue expander was inserted in 27 women (46.6% of the group) with locally advanced tumors and the need for subsequent radiotherapy (18 immediate and 9 delayed reconstructions). Breast implants were used in 52 women (89.7% of the group) in a total of 80 implants. Breast reconstruction with own tissue was performed in 8 women, of which 5 operations were performed as part of immediate reconstruction. In 10 women with immediate breast reconstruction (20.8% of the group) aged 34 to 54 years (44.2 ± 5.7 years), the operation was supplemented by simultaneous laparoscopic adnexectomy or total laparoscopic hysterectomy. Conclusion: Increasingly earlier and more frequent detection of genetic abnormalities in tumor suppressor genes has increased the importance of preventive removal of the mammary gland. Also, as the incidence of breast cancer increases, the demand for reconstructive procedures, especially immediate reconstructions, increases. Immediate breast reconstruction in BRCA mutation carriers is a comprehensive set of techniques by which any patient can develop a breast without being dependent on an epithelium. The indication for prophylactic mastectomy with immediate reconstruction should be preceded by a detailed discussion between the patient and the attending physician. A prerequisite for quality treatment is the interdisciplinary cooperation of a clinical oncologist, general and plastic surgeon, gynecologist, clinical geneticist and psychologist.

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