乳腺癌的多基因检测:BRCA1/2 以外致病变异患者的临床实用性和管理。

IF 5.5 2区 医学 Q1 HEMATOLOGY
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
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引用次数: 0

摘要

多基因面板可分析易患乳腺癌(BC)的高、中/中等渗透性基因,为在受影响的家族中识别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,需要一个多学科团队来有效管理乳腺癌。本综述对多基因面板中的致病变异进行了分类,以评估它们在 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,以便在治疗策略和预防措施方面做出定制化决定,并采取明确的多学科方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Multigenic panels in breast cancer: clinical utility and management of patients with pathogenic variants other than BRCA1/2

Multigenic panels in breast cancer: clinical utility and management of patients with pathogenic variants other than BRCA1/2

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.

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来源期刊
CiteScore
11.00
自引率
3.20%
发文量
213
审稿时长
55 days
期刊介绍: Critical Reviews in Oncology/Hematology publishes scholarly, critical reviews in all fields of oncology and hematology written by experts from around the world. Critical Reviews in Oncology/Hematology is the Official Journal of the European School of Oncology (ESO) and the International Society of Liquid Biopsy.
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