Takano Masashi, Sugiyama Toru
Department of Clinical Oncology, National Defense Medical College Hospital, Tokorozawa, Saitama.
Department of Obstetrics and Gynecology, Iwate Medical University, Morioka, Iwate, Japan.
Pharmgenomics Pers Med. 2017 Feb 28;10:61-68. doi: 10.2147/PGPM.S108656. eCollection 2017.
Mutations in the gene have been implicated in Gilbert syndrome, which shows mild hyperbilirubinemia, and a more aggressive childhood subtype, Crigler-Najjar syndrome. To date, more than 100 variants have been found in the gene. Among them, and have been reported to be associated with severe toxicities in patients treated with irinotecan-based chemotherapy by increasing the dose of SN-38 (7-ethyl-10-hydroxycamptothecin), an active form of irinotecan. Many association studies and meta-analyses have demonstrated the contribution of and polymorphisms to the toxicities caused by irinotecan-based therapy. The aim of this review was to evaluate the impact of these variants upon the toxicities and the efficacy of irinotecan-based chemotherapy.
该基因的突变与吉尔伯特综合征有关，吉尔伯特综合征表现为轻度高胆红素血症，以及一种更具侵袭性的儿童亚型——克里格勒 - 纳贾尔综合征。迄今为止，在该基因中已发现100多个变体。其中，据报道，通过增加伊立替康活性形式SN - 38（7 - 乙基 - 10 - 羟基喜树碱）的剂量，[此处原文可能缺失具体基因名称等信息]与接受基于伊立替康的化疗患者的严重毒性相关。许多关联研究和荟萃分析已经证明了[此处原文可能缺失具体基因名称等信息]多态性对基于伊立替康治疗所引起毒性的影响。本综述的目的是评估这些变体对基于伊立替康化疗的毒性和疗效的影响。
