Department of Surgery and Oncology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Department of Clinical Genetics and Medicine, Kyushu University Hospital, Fukuoka, Japan.
Anticancer Res. 2022 Aug;42(8):4097-4102. doi: 10.21873/anticanres.15907.
BACKGROUND/AIM: Hereditary tumors are estimated to account for approximately 5-10% of all tumors. In Europe and the United States, multi-gene panel testing (MGPT) is the standard method used for identifying potential causative genes. However, MGPT it is still not widely used in Japan. The aim of this study was to assess the risk of hereditary tumors in Japanese cancer patients using germline MGPT and provide an overview of MGPT in the Japanese medical system.
We used the myRiskTM, a 35-gene panel that determines the risk for eight hereditary cancers: breast, ovarian, gastric, colorectal, prostate, pancreatic, malignant melanoma, and endometrial cancers.
From June 2019 to March 2020, 21 patients who were suspected to have hereditary tumors were included, based on their family or medical history. Pathogenic variants were found in 7 patients [BRCA1 (5), MSH6 (1), TP 53 (1)].
In this study, despite the small number of participants, we were able to show the significance of MGPT in Japan. Therefore, MGPT should be used for evaluating hereditary tumors in clinical practice.
背景/目的：遗传性肿瘤估计占所有肿瘤的 5-10%。在欧洲和美国，多基因panel 测试（MGPT）是用于识别潜在致病基因的标准方法。然而，MGPT 在日本尚未广泛应用。本研究旨在通过种系 MGPT 评估日本癌症患者的遗传性肿瘤风险，并概述日本医疗体系中的 MGPT。
我们使用了 myRiskTM，这是一个包含 35 个基因的panel，可确定八种遗传性癌症的风险：乳腺癌、卵巢癌、胃癌、结直肠癌、前列腺癌、胰腺癌、恶性黑色素瘤和子宫内膜癌。
2019 年 6 月至 2020 年 3 月，根据家族史或病史，我们纳入了 21 名疑似遗传性肿瘤的患者。在 7 名患者中发现了致病性变异[BRCA1（5），MSH6（1），TP53（1）]。
在这项研究中，尽管参与者人数较少，但我们能够证明 MGPT 在日本的重要性。因此，MGPT 应在临床实践中用于评估遗传性肿瘤。
