Bertozzi Serena, Londero Ambrogio P, Xholli Anjeza, Azioni Guglielmo, Di Vora Roberta, Paudice Michele, Bucimazza Ines, Cedolini Carla, Cagnacci Angelo
Breast Unit, University Hospital of Udine, 33100 Udine, UD, Italy.
Ennergi Research (Non-Profit Organisation), 33050 Lestizza, UD, Italy.
J Clin Med. 2023 Feb 10;12(4):1422. doi: 10.3390/jcm12041422.
This narrative review aims to clarify the role of breast and gynecological risk-reduction surgery in BRCA mutation carriers. We examine the indications, contraindications, complications, technical aspects, timing, economic impact, ethical issues, and prognostic benefits of the most common prophylactic surgical options from the perspectives of a breast surgeon and a gynecologist. A comprehensive literature review was conducted using the PubMed/Medline, Scopus, and EMBASE databases. The databases were explored from their inceptions to August 2022. Three independent reviewers screened the items and selected those most relevant to this review's scope. BRCA1/2 mutation carriers are significantly more likely to develop breast, ovarian, and serous endometrial cancer. Because of the Angelina effect, there has been a significant increase in bilateral risk-reducing mastectomy (BRRM) since 2013. BRRM and risk-reducing salpingo-oophorectomy (RRSO) significantly reduce the risk of developing breast and ovarian cancer. RRSO has significant side effects, including an impact on fertility and early menopause (i.e., vasomotor symptoms, cardiovascular disease, osteoporosis, cognitive impairment, and sexual dysfunction). Hormonal therapy can help with these symptoms. Because of the lower risk of developing breast cancer in the residual mammary gland tissue after BRRM, estrogen-only treatments have an advantage over an estrogen/progesterone combined treatment. Risk-reducing hysterectomy allows for estrogen-only treatments and lowers the risk of endometrial cancer. Although prophylactic surgery reduces the cancer risk, it has disadvantages associated with early menopause. A multidisciplinary team must carefully inform the woman who chooses this path of the broad spectrum of implications, from cancer risk reduction to hormonal therapies.
本叙述性综述旨在阐明乳腺和妇科降低风险手术在携带BRCA突变者中的作用。我们从乳腺外科医生和妇科医生的角度,审视了最常见预防性手术选择的适应症、禁忌症、并发症、技术方面、时机、经济影响、伦理问题以及预后益处。使用PubMed/Medline、Scopus和EMBASE数据库进行了全面的文献综述。对这些数据库从创建到2022年8月进行了检索。三位独立评审员筛选了相关条目,并挑选出与本综述范围最相关的条目。携带BRCA1/2突变者患乳腺癌、卵巢癌和浆液性子宫内膜癌的可能性显著更高。由于“安吉丽娜效应”,自2013年以来双侧降低风险乳房切除术(BRRM)显著增加。BRRM和降低风险的输卵管卵巢切除术(RRSO)可显著降低患乳腺癌和卵巢癌的风险。RRSO有显著的副作用,包括对生育能力的影响和过早绝经(即血管舒缩症状、心血管疾病、骨质疏松症、认知障碍和性功能障碍)。激素治疗有助于缓解这些症状。由于BRRM后残留乳腺组织中患乳腺癌的风险较低,仅使用雌激素治疗比雌激素/孕激素联合治疗具有优势。降低风险的子宫切除术允许仅使用雌激素治疗,并降低子宫内膜癌的风险。尽管预防性手术降低了癌症风险,但它有与过早绝经相关的缺点。多学科团队必须仔细告知选择这条道路的女性这一系列广泛的影响,从降低癌症风险到激素治疗。