关键词: Breast cancers clinical management multigenic panels pathogenic variants patient journey

Mesh : Humans Breast Neoplasms / genetics therapy diagnosis pathology Female Genetic Predisposition to Disease Genetic Testing / methods BRCA2 Protein / genetics BRCA1 Protein / genetics Mutation Disease Management

来  源:   DOI:10.1016/j.critrevonc.2024.104431

Abstract:
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.
摘要:
多基因面板可以分析易患乳腺癌(BC)的高和中/中等外显基因,提供识别受影响家庭中处于危险中的个人的机会。然而,考虑到不同致病变异的复杂性和相关的临床表现,需要一个多学科团队来有效管理BC.在这篇叙述性综述中介绍了多基因组中包含的致病变异的分类,以评估其在BC中的临床应用。讨论了每个类别的临床管理,重点是BC,包括关于BC患者的多学科和综合管理的现有证据。基因检测和咨询的整合需要在治疗策略和预防措施的定制决策,以及定义的多学科方法,考虑到该领域指导方针和研究的不断发展。
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