氟尿嘧啶,临床注释-2,变异和临床注释数据

氟尿嘧啶

临床注释ID

1447989739

药物名称(英)

fluorouracil

变异单倍型

rs78060119

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

98.75

PMID计数

2

计数的证据

3

表现型

肿瘤

表现型(英)

Neoplasms

最新日期

2021/3/24 0:00:00

URL

https://www.pharmgkb.org/clinicalAnnotation/1447989739

专业人口(英)

Pediatric

专业人口

儿科

临床等位基因

id	等位基因	注释文本
958	CC	The A allele of rs78060119 is assigned no function by CPIC. Patients with the CC genotype and cancer who are treated with fluorouracil, a fluoropyrimidine-based chemotherapy, may have decreased, but not absent, risk and reduced severity of drug toxicity as compared to patients with the AA or AC genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence risk of drug toxicity.
957	AC	The A allele of rs78060119 is assigned no function by CPIC. Patients with the AC genotype and cancer who are treated with fluorouracil, a fluoropyrimidine-based chemotherapy, may have increased risk and increased severity of drug toxicity as compared to patients with the CC genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence risk of drug toxicity.
956	AA	The A allele of rs78060119 is assigned no function by CPIC. Patients with the AA genotype and cancer who are treated with fluorouracil, a fluoropyrimidine-based chemotherapy, may have increased risk and increased severity of drug toxicity as compared to patients with the CC genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence risk of drug toxicity.

临床证据

id	证据的ID	总结
1747	1447945441	Genotype CC is not associated with Drug Toxicity when treated with fluorouracil in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes AA + AC.
1746	1450960027	Genotype AC is associated with increased risk of Drug Toxicity when treated with fluorouracil in women with Breast Neoplasms as compared to genotype CC.
1745	PA166122686	Annotation of CPIC Guideline for fluorouracil and DPYD

临床病史

id	类型	评论
688	Update	CA score added as part of scoring system release. LOE assigned following curator review.
687	Update	Included rs in text.
686	Update	Attached CPIC guideline and removed override. Added CPIC function and modified text.
685	Update	ADR evidence only
684	Update	updated for *12 to rs78060119
683	Update	Updated from a Level 4 to a Level 1A due to presence of variant-drug combination in a CPIC guideline
682	Create

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