Hirasawa Akira
Dept. of Clinical Genomic Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University.
Gan To Kagaku Ryoho. 2024 Jul;51(7):677-680.
Pathogenic variant carriers of hereditary tumors have the risk of developing cancer in multiple organs, and genetic testing can be used as an opportunity to conduct surveillance for early detection of cancer and to prevent the development of new cancers and it becomes possible to develop individualized preventive strategies including risk-reductive surgery. Multi gene panel testing(MGPT), which simultaneously measures several dozen to more than 100 genes, has been widely used to diagnose of hereditary tumors in worldwide since around 2014. Although, MGPTs has not been approved under the Pharmaceutical and Medical Devices Act in Japan. MGPTs for hereditary tumors can be expected to become the mainstream of diagnosis for hereditary tumors in near future.
遗传性肿瘤的致病基因变异携带者有多个器官发生癌症的风险，基因检测可作为开展监测以早期发现癌症、预防新癌症发生的契机，并且有可能制定包括降低风险手术在内的个性化预防策略。多基因panel检测（MGPT）可同时检测几十到100多个基因，自2014年左右以来已在全球广泛用于遗传性肿瘤的诊断。不过，MGPT在日本尚未根据《药品和医疗器械法》获得批准。遗传性肿瘤的MGPT有望在不久的将来成为遗传性肿瘤诊断的主流。
