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[遗传性肿瘤综合征的临床实践现状与挑战]

[Current Status and Challenges of Clinical Practice for Hereditary Tumor Syndromes].

作者信息

Imoto Issei, Takaiso Nobue

机构信息

Risk Assessment Center, Aichi Cancer Center Hospital.

出版信息

Gan To Kagaku Ryoho. 2019 Jul;46(7):1093-1096.

Abstract

Somatic multiple-gene panel tests for cancer genome medicine and companion diagnostics, which diagnose or screen hereditary tumor syndromes along with selecting patients suitable for specific anticancer drugs, have been introduced to the clinical setting. Germline multi-gene panel tests also have begun to be used. In this situation, the traditional flow of the medical treatment for hereditary tumor syndromes is rapidly changing in Japan. It is anticipated that cases whose complicated germline genetic information is detected through approaches different from the traditional genetic testing flow will increase. It is necessary to develop systems that can lead to preventive intervention and treatment of cancer patients and previvors in his/her relatives through interpretation and communication of genetic information. In future medical treatment for hereditary tumor syndrome, flexible responses for various issues in a manner free from traditional are required not to be confined to the frame of conventional medical genetics.

摘要

用于癌症基因组医学和伴随诊断的体细胞多基因检测板测试已被引入临床环境,该测试可诊断或筛查遗传性肿瘤综合征,并选择适合特定抗癌药物的患者。种系多基因检测板测试也已开始使用。在这种情况下,日本遗传性肿瘤综合征的传统治疗流程正在迅速变化。预计通过与传统基因检测流程不同的方法检测到复杂种系遗传信息的病例将会增加。有必要开发能够通过基因信息的解读和沟通,对癌症患者及其亲属中的幸存者进行预防干预和治疗的系统。在未来遗传性肿瘤综合征的治疗中,需要以不受传统束缚的方式灵活应对各种问题,而不应局限于传统医学遗传学的框架。

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