精准肿瘤学时代的遗传性乳腺癌癌症基因咨询

IF 11.3 1区 化学 Q1 CHEMISTRY, PHYSICAL
M. Pensabene , A. Calabrese , C. von Arx, R. Caputo, M. De Laurentiis
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引用次数: 0

摘要

有相当比例的乳腺癌(BC)与致病基因中的致病(P)/可能致病(LP)变异有关。对 P/LP 变异的了解是乳腺癌患者首次确诊后进行治疗的基本要素,因为它会影响手术和后续的肿瘤治疗及随访。此外,如果是 BRCA1/2 基因中 P/LP 变异的携带者,转移性 BC 患者可以从个性化治疗中获益。通过多基因检测,还可以发现其他对治疗有影响的易感基因。对健康的家庭成员进行连锁基因检测,可以制定个性化的预防策略。在此,我们回顾了癌症遗传咨询(CGC)的进展和挑战。我们将重点放在针对遗传性 BC 管理的肿瘤学领域,描述引导 CGC 的独特方式以及 CGC 如何随着时间的推移而变化。作者描述了根据诊断阶段,通过有针对性的方法或通用方法进行基因检测对 BC 管理的影响。此外,他们还描述了CGC和检测的负担以及广泛提供检测的未来前景。除了正规的遗传咨询外,还需要从新的视角看待提供遗传咨询和检测服务的模式。在精准肿瘤学时代,更广泛的基因检测可迅速用于临床实践,以实现对乳腺癌的全面管理和个性化预防。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Cancer genetic counselling for hereditary breast cancer in the era of precision oncology

Cancer genetic counselling for hereditary breast cancer in the era of precision oncology

A relevant percentage of breast cancers (BCs) are tied to pathogenetic (P)/likely pathogenetic (LP) variants in predisposing genes. The knowledge of P/LP variants is an essential element in the management of BC patients since the first diagnosis because it influences surgery and subsequent oncological treatments and follow-up. Moreover, patients with metastatic BCs can benefit from personalized treatment if carriers of P/LP in BRCA1/2 genes. Multigene panels allow the identification of other predisposing genes with an impact on management. Cascade genetic testing for healthy family members allows personalized preventive strategies. Here, we review the advances and the challenges of Cancer Genetic Counseling (CGC). We focus on the area of oncology directed to hereditary BC management describing the peculiar way to lead CGC and how CGC changes over time. The authors describe the impact of genetic testing by targeted approach or universal approach on the management of BC according to the stage at diagnosis. Moreover, they describe the burden of CGC and testing and future perspectives to widely offer testing. A new perspective is needed for models of service delivery of CGC and testing, beyond formal genetic counselling. A broader genetic test can be quickly usable in clinical practice for comprehensive BC management and personalized prevention in the era of precision oncology.

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来源期刊
ACS Catalysis
ACS Catalysis CHEMISTRY, PHYSICAL-
CiteScore
20.80
自引率
6.20%
发文量
1253
审稿时长
1.5 months
期刊介绍: ACS Catalysis is an esteemed journal that publishes original research in the fields of heterogeneous catalysis, molecular catalysis, and biocatalysis. It offers broad coverage across diverse areas such as life sciences, organometallics and synthesis, photochemistry and electrochemistry, drug discovery and synthesis, materials science, environmental protection, polymer discovery and synthesis, and energy and fuels. The scope of the journal is to showcase innovative work in various aspects of catalysis. This includes new reactions and novel synthetic approaches utilizing known catalysts, the discovery or modification of new catalysts, elucidation of catalytic mechanisms through cutting-edge investigations, practical enhancements of existing processes, as well as conceptual advances in the field. Contributions to ACS Catalysis can encompass both experimental and theoretical research focused on catalytic molecules, macromolecules, and materials that exhibit catalytic turnover.
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