乳腺癌多基因组:具有 BRCA1/2 以外致病性变异的患者的临床应用和管理。
Multigenic panels in breast cancer: clinical utility and management of patients with pathogenic variants other than BRCA1/2.
发表日期:2024 Jul 06
作者:
Alessandra Fabi, Laura Cortesi, Simona Duranti, Emanuela Lucci Cordisco, Alba Di Leone, Daniela Terribile, Ida Paris, Antonio Giulio de Belvis, Armando Orlandi, Fabio Marazzi, Margherita Muratore, Giorgia Garganese, Paola Fuso, Filippo Paoletti, Rossella Dell'Aquila, Angelo Minucci, Giovanni Scambia, G Franceschini, R Masetti, Maurizio Genuardi
来源:
CRITICAL REVIEWS IN ONCOLOGY HEMATOLOGY
摘要:
多基因面板可以分析易患乳腺癌 (BC) 的高和中/中外显率基因,为识别受影响家庭中的高危个体提供了机会。然而,考虑到不同致病变异和相关临床表现的复杂性,需要多学科团队来有效管理 BC。本叙述性综述中提出了多基因组中包含的致病变异的分类,以评估其在 BC 中的临床效用。对每个类别的临床管理进行了讨论,并重点关注 BC,包括有关 BC 患者多学科综合管理的现有证据。考虑到该领域指南和研究的不断发展,需要将基因检测和咨询结合起来,以制定治疗策略和预防措施的定制决策,以及确定的多学科方法。版权所有 © 2024 Elsevier B.V. 保留所有权利。
Multigene panels can analyze high and moderate/intermediate penetrance genes that predispose to breast cancer (BC), providing an opportunity to identify at-risk individuals within affected families. However, considering the complexity of different pathogenic variants and correlated clinical manifestations, a multidisciplinary team is needed to effectively manage BC. A classification of pathogenic variants included in multigene panels was presented in this narrative review to evaluate their clinical utility in BC. Clinical management was discussed for each category and focused on BC, including available evidence regarding the multidisciplinary and integrated management of patients with BC. The integration of both genetic testing and counseling is required for customized decisions in therapeutic strategies and preventative initiatives, as well as for a defined multidisciplinary approach, considering the continuous evolution of guidelines and research in the field.Copyright © 2024 Elsevier B.V. All rights reserved.