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当前位置:药药网 / 数据中心 / 临床注释,变异和临床注释数据
氟尿嘧啶
临床注释ID
1451289660
药物名称(英)
fluorouracil
变异单倍型
rs59086055
基因
DPYD
证据级别
1A
水平覆盖
水平修饰符
Rare Variant; Tier 1 VIP
表现型类别(英)
Toxicity
表现型类别
毒性
分数
100.0
PMID计数
1
计数的证据
2
表现型
肿瘤
表现型(英)
Neoplasms
最新日期
2021-03-24
URL
https://www.pharmgkb.org/clinicalAnnotation/1451289660
专业人口(英)
专业人口
临床等位基因
id
等位基因
注释文本
2501
AG
The A allele of rs59086055 is assigned a no function allele by CPIC. Patients with AG genotype and cancer who are treated with fluorouracil, a fluoropyrimidine-based chemotherapy, may have increased risk of drug toxicity as compared to patient with the GG genotype. Other genetic and clinical factors may also influence risk of drug toxicity.
2500
AA
The A allele of rs59086055 is assigned a no function allele by CPIC. There is currently only available evidence regarding the association between the rs59086055 AG heterozygote and fluorouracil toxicity. However, patients with the rs59086055 AA genotype and cancer who are treated with fluorouracil, a fluoropyrimidine-based chemotherapy, may have increased risk of drug toxicity as compared to patient with the GG genotype. Other genetic and clinical factors may also influence risk of drug toxicity.
398
GG
The A allele of rs59086055 is assigned a no function allele by CPIC. Patients with GG genotype and cancer who are treated with fluorouracil and leucovorin may have a decreased, but not absent, risk of drug toxicity as compared to patients with the AG or AA genotype. Other genetic and clinical factors may also influence risk of drug toxicity.
临床证据
id
证据的ID
总结
14710
1450953760
Genotype AG is associated with increased likelihood of Drug Toxicity and Neutropenia when treated with fluorouracil and leucovorin in people with Colorectal Neoplasms as compared to genotype GG.
14709
PA166122686
Annotation of CPIC Guideline for fluorouracil and DPYD
临床病史
id
类型
评论
48
Update
CA score added as part of scoring system release. LOE assigned following curator review.
47
Update
Attached CPIC guideline.
46
Update
Added rs number to text and CPIC function statement.
45
Note
This variant is discussed in the CPIC guideline supplement ONLY in the context of activity, NOT in the context of toxicity. However after curator discussion this annotation should be assigned level 1 based on CPIC allele function and activity.
44
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