卡培他滨,临床注释-2,变异和临床注释数据

卡培他滨

临床注释ID

1451276160

药物名称(英)

capecitabine

变异单倍型

rs55886062

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

201.5

PMID计数

10

计数的证据

12

表现型

肿瘤

表现型(英)

Neoplasms

最新日期

2021/5/24 0:00:00

URL

https://www.pharmgkb.org/clinicalAnnotation/1451276160

专业人口(英)

专业人口

临床等位基因

id	等位基因	注释文本
1322	CC	The C allele of rs55886062 is assigned a no function allele by CPIC. Patients with the CC genotype and cancer who are treated with capecitabine, a fluoropyrimidine-based chemotherapy, may have increased risk of drug toxicity as compared to patients with the AA genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence risk of drug toxicity.
1321	AC	The C allele of rs55886062 is assigned a no function allele by CPIC. Patients with the AC genotype and cancer who are treated with capecitabine, a fluoropyrimidine-based chemotherapy, may have increased risk of drug toxicity as compared to patients with the AA genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence risk of drug toxicity.
1320	AA	The C allele of rs55886062 is assigned a no function allele by CPIC. Patients with the AA genotype and cancer who are treated with capecitabine, a fluoropyrimidine-based chemotherapy, may have decreased, but not absent, risk of drug toxicity as compared to patients with the AC or 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
1249	1450373067	Genotype AC is associated with risk of Drug Toxicity when treated with capecitabine or fluorouracil in people with Neoplasms as compared to genotype AA.
1248	1449161870	Genotype AA is not associated with risk of Drug Toxicity when treated with capecitabine or fluorouracil in people with Neoplasms as compared to genotypes AC + CC.
1247	1448124253	Genotype AC is associated with risk of Drug Toxicity when treated with capecitabine or fluorouracil in people with Neoplasms.
1157	1448123368	Genotype AC is not associated with likelihood of Drug Toxicity when treated with capecitabine in people with Colorectal Neoplasms as compared to genotype AA.
1156	1450953032	Genotypes AC + CC are associated with increased risk of Drug Toxicity when treated with capecitabine, fluorouracil or tegafur in people with Neoplasms as compared to genotype AA.
1155	1448124824	Genotype AC is not associated with severity of Drug Toxicity when treated with capecitabine in people with Colorectal Neoplasms as compared to genotype AA.
1154	1450372235	Genotypes AC + CC is not associated with risk of Drug Toxicity when treated with capecitabine or fluorouracil in people with Neoplasms as compared to genotype AA.
1153	1447991202	Genotype AC is not associated with Drug Toxicity when treated with capecitabine or fluorouracil in people with Neoplasms.
1152	1447945597	Genotype AC is not associated with severity of Drug Toxicity when treated with capecitabine or fluorouracil in people with Neoplasms as compared to genotype AA.
1151	1447959040	Allele C is not associated with Drug Toxicity when treated with capecitabine or fluorouracil in people with Neoplasms.
1150	PA166104963	Annotation of DPWG Guideline for capecitabine and DPYD
1149	PA166109594	Annotation of CPIC Guideline for capecitabine and DPYD

临床病史

id	类型	评论
1473	Update	Added DPWG guideline as evidence
1472	Update	CA score added as part of scoring system release. LOE assigned following curator review.
1471	Update	Added rs number to text
1470	Update	Added CPIC function and modified text.
1469	Update	Attached CPIC guideline and removed override.
1468	Create	Created
1467	Update	CA includes a number of "not associated" VAs, some of which are excluded from scoring because the variant was found only in a few participants (often affected by toxicity, see VA description notes) impeding statistical analysis. The variant is characterized as "Fully dysfunctional" and with "Sufficient evidence." in the DPWG DPYD guideline and as "no function" variant in the CPIC guideline.

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