Overview
| Alternate Names: | Benign Neoplasm; Benign Neoplasms; Cancer; Cancers; Neoplasm; Neoplasm, Benign; Neoplasms NOS; Neoplasms, Benign; Tumor; Tumors; Tumour |
|---|---|
| PharmGKB Accession Id: | PA445062 |
| External Vocabularies |
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In-Depth Annotations (
)
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rs12721627
at chr7:99204029
in
CYP3A,
CYP3A4
Part of CYP3A4*16B haplotype that has been shown to alter paclitaxel metabolite levels in Japanese(Asian) cancer patients; defining polymorphism for CYP3A4*16A.- Variant Name:
- CYP3A4:T185S; CYP3A4:658 C>G; CYP3A4:185 Thr>Ser; CYP3A4*16A
- Related Drugs:
- paclitaxel
- Related Diseases:
- Neoplasms
- Evidence:
-
http://www.pharmgkb.org/.../variant.jsp
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rs2228570
at chr12:46559162
in
VDR
Shortens protein by three amino acids; some association with cancer risk.- Variant Name:
- VDR:FokI
- Related Diseases:
- Neoplasms
- Evidence:
-
http://www.pharmgkb.org/.../variant.jsp
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rs59421388
at chr22:40853554
in
CYP2D6
This variant is part of the reduced functioning haplotype CYP2D6*29, which is found at an estimated allele frequency of 20% in African Tanzanians.- Variant Name:
- CYP2D6: 3183G>A; 3271G>A
- Related Drugs:
- citalopram, codeine, desipramine, fluoxetine, fluvoxamine, gefitinib, haloperidol, imipramine, morphine, tramadol
- Related Diseases:
- Cystic Fibrosis, Depression, Hypertension, Neoplasms, Pain, Parkinson Disease, Schizophrenia
- Evidence:
-
http://www.pharmgkb.org/.../variant.jsp
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rs61736512
at chr22:40855078
in
CYP2D6
This variant is part of the reduced functioning haplotype CYP2D6*29, which is found at an estimated allele frequency of 20% in African Tanzanians.- Variant Name:
- CYP2D6: 1659G>A; 1747G>A
- Related Drugs:
- citalopram, codeine, desipramine, fluoxetine, fluvoxamine, gefitinib, haloperidol, imipramine, morphine, tramadol
- Related Diseases:
- Cystic Fibrosis, Depression, Hypertension, Neoplasms, Pain, Parkinson Disease, Schizophrenia
- Evidence:
-
http://www.pharmgkb.org/.../variant.jsp
Curated Annotations (
)
-
rs8175347
at chr2:234333620
in
UGT1A1,
UGT1A10,
UGT1A3,
UGT1A4,
UGT1A5,
UGT1A6,
UGT1A7,
UGT1A8,
UGT1A9
Risk or phenotype-associated allele: (TA)7 repeat insertion in the UGT1A1 promoter. Phenotype: Patients with the UGT1A1*28 7/7 genotype had a statistically greater baseline total bilirubin than patients with homozygous (6-TA repeat) 6/6 or heterozygous 6/7 genotype (p = 0.005). UGT1A1*28 genotype was not associated with grade 3 and 4 neutropenia (p > 0.2) or diarrhea (p > 0.1). However, patients with the *28 7/7 genotype tended to have higher SN-38 area under the plasma time-concentration curve (AUC) values and lower SN-38-glucuronide to SN-38 AUC ratios. Study size: 74. Study population/ethnicity: Pediatric patients from five institutional clinical trials with solid tumors receiving low-dose, protracted irinotecan (15 to 75 mg/m2 daily for 5 days for 2 consecutive weeks). Significance metric(s): p = 0.005 - 0.2. Type of association: GN; PK; PD.- Variant Name:
- UGT1A1*28, 7-TA insertion in promoter, short tandem repeat (microsatellite) (TA)7
- Related Drugs:
- irinotecan, SN-38
- Related Diseases:
- Drug Toxicity, Neoplasms
- Evidence:
-
PMID:17577039
-
rs7657958
at chr4:69717384
in
UGT2B10
The UGT2B1067Tyr variant corresponding to the UGT2B10 haplotype C is a functional single nucleotide polymorphism that may be responsible for inter individual variation in NNAL-N-glucuronidation activity and may increase susceptibility to smoking-related cancers.- Variant Name:
- tagging SNP for UGT2B10:199G>T (Asp67Tyr)
- Related Drugs:
- nicotine
- Related Diseases:
- Neoplasms
- Evidence:
-
PMID:17909004
PMID:18300939
-
rs2231142
at chr4:89271347
in
ABCG2
The ABCG2 421C>A genotype significantly affected the pharmacokinetics of diflomotecan in 5 patients heterozygous for this allele.- Variant Name:
- ABCG2:421C>A; ABCG2:Q141K; rs2231142
- Related Drugs:
- diflomotecan
- Related Diseases:
- Neoplasms
- Evidence:
-
PMID:15229462
-
rs2622604
at chr4:89297948
in
ABCG2
Risk or phenotype-associated allele: T. Phenotype: This SNP was associated with increased risk of myelosuppression in cancer patients treated with irinotecan. Study size: 108. Study population/ethnicity: Japanese patients with neoplasms; Japan. Significance metric(s): p = 0.036. Type of association: PK; CO.- Variant Name:
- ABCG2 SNP in intron 1; rs2622604 C>T
- Related Drugs:
- irinotecan
- Related Diseases:
- Anemia, Drug Toxicity, Leukopenia, Neoplasms, Neutropenia, Thrombocytopenia
- Evidence:
-
PMID:19696792
-
rs1138272
at chr11:67110155
in
GSTP1
A study of 124 White patients, which received a high-dose regimen consisting of cyclophosphamide, thiotepa and carboplatin as intravenous infusions, concludes patients homozygous for the GSTP1 C341T allele may have enhanced exposure to thiotepa and tepa.- Variant Name:
- GSTP1: C341T; A114V
- Related Drugs:
- thiotepa
- Related Diseases:
- Neoplasms
- Evidence:
-
PMID:19076156
-
rs3765534
at chr13:94613416
in
ABCC4
Human lymphocyte cell lines homozygous for the A allele of this variant, common in Japanese populations, exhibit reduced surface membrane levels of ABCC4 protein and increased sensitivity to 6-mercaptopurine toxicity relative to cell lines homozygous for the G allele. The A-allele and G-allele cell lines have similar overall protein expression levels.- Variant Name:
- ABCC4:G2269A, ABCC4:E857K
- Related Drugs:
- mercaptopurine
- Related Diseases:
- Neoplasms
- Evidence:
-
PMID:18593894
-
rs55889066
at chr15:72832628
in
CYP1A2
Risk or phenotype-associated allele: A Phenotype: In an in vitro system, this variant showed no catalytic activity against the carcinogen NNK. The wild type protein bioactivates this carcinogen. The variant also produced extra metabolites of phenacetin that were not observed with the wild type protein. Type of association: FA- Variant Name:
- CYP1A2:Cys406Tyr, CYP1A2*5, rs55889066 G>A
- Related Drugs:
- phenacetin
- Related Diseases:
- Neoplasms
- Evidence:
-
PMID:20125119
-
rs1042522
at chr17:7520197
in
TP53
The p53 codon 72 polymorphism was found be associated with different cancers, like colorectal adenocarcinoma, gastric cancer, and prostate cancer.- Related Diseases:
- Colorectal Neoplasms, Neoplasms, Prostatic Neoplasms, Stomach Neoplasms
- Evidence:
-
PMID:12824702
PMID:17546594
PMID:19339276
-
rs11655505
at chr17:38531903
in
BRCA1,
NBR2
This variant is in the promoter region of BRCA1. T allele is associated with increased promoter activity compared with the A allele. The carriers of T allele had a reduced risk of breast cancer in chinese women. The associate is more prominent in women aged >=45 years, particularly those without a family history of breast cancer.- Variant Name:
- BRCA1: -2265C>T
- Related Diseases:
- Breast Neoplasms, Neoplasms
- Evidence:
-
PMID:18782836
Non-Curated Annotations (
)
-
rs7538876
at chr1:17594950
in
PADI6
GWAS results: Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits. (Initial Sample Size: 930 cases, 33,117 controls; Replication Sample Size: 1,216 cases, 2,844 controls); (Region: 1p36.13; Reported Gene(s): PADI4, PADI6,RCC2, ARHGEF10L; Risk Allele: rs7538876-A); (p-value= 0.000000000004).This variant is associated with Basal cell carcinoma (cutaneous).- Related Diseases:
- Neoplasms
- Evidence:
-
PMID:18849993
http://www.genome.gov/gwastudies/
-
rs801114
at chr1:227064458
GWAS results: Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits. (Initial Sample Size: 930 cases, 33,117 controls; Replication Sample Size: 1,216 cases, 2,844 controls); (Region: 1q42.13; Reported Gene(s): RHOU; Risk Allele: rs801114-G); (p-value= 0.000000000006).This variant is associated with Basal cell carcinoma (cutaneous).- Related Diseases:
- Neoplasms
- Evidence:
-
PMID:18849993
http://www.genome.gov/gwastudies/
-
rs10974944
at chr9:5060831
in
JAK2
GWAS results: A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms. (Initial Sample Size: 324 cases, 2,999 controls; Replication Sample Size: NR); (Region: 9p24.1; Reported Gene(s): JAK2); (p-value= 4E-20).This variant is associated with Myeloproliferative neoplasms.- Related Diseases:
- Neoplasms
- Evidence:
-
PMID:19287384
http://www.genome.gov/gwastudies/
-
rs2804402
at chr10:101531573
in
ABCC2,
NANOGP6
ABCC2*2 (−1019a>G) is associated with lower irinotecan clearance and with significant reduction in severe diarrhea in cancer patients.- Variant Name:
- ABCC2: ¿1019a>G
- Related Drugs:
- irinotecan
- Related Diseases:
- Diarrhea, Neoplasms
- Evidence:
-
PMID:19940846
-
rs2306283
at chr12:21221005
in
SLCO1B1
Approximately 50% of the variation in absolute neutrophil count nadir in cancer patients is explained by rs3765129, rs2306283 and UGT1a1*93; the AUCs of irinotecan, SN-38, SN-38 glucuronide, and APC are influenced by rs3740066, rs2306283, rs35605, rs10276036, and rs717620 .- Variant Name:
- SLCO1B1: N130D
- Related Diseases:
- Neoplasms
- Evidence:
-
PMID:19940846
-
rs3765129
at chr16:16057402
in
ABCC1
Approximately 50% of the variation in absolute neutrophil count nadir in cancer patients is explained by rs3765129, rs2306283 and UGT1a1*93.- Variant Name:
- ABCC1: IVS11 ¿48C>T
- Related Diseases:
- Neoplasms
- Evidence:
-
PMID:19940846
Variant names are different names that have been used in the literature and other resources to
refer to the same variant.
Non-curated variant information is accumulated solely by computational methods and has not
been verified by the scientific staff at PharmGKB.
Curated Information
The following genes are in curated knowledge about this disease.
Primary phenotype data has been submitted and is available
Primary genotype data has been submitted and is available
Non-Curated Information
A list of non-curated publications that mention this disease along with other genes is available.
PharmGKB Curated Pathways
Curated Information
The following drugs are in curated knowledge about this disease.
| Drug Class | Relationship | Evidence | |
|---|---|---|---|
|
anthracyclines and related substances |
|
Publications |
|
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antineoplastic agents |
|
Publications |
|
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artemisinin and derivatives |
|
Publications |
|
|
Imidazothiazole derivatives |
|
Publications |
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opioids |
|
Publications |
|
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xenobiotics |
|
Publications |
Non-Curated Information
A list of non-curated publications that mention this disease along with other drugs is available.
Non-Curated Information
A list of non-curated publications that mention this disease along with other diseases is available.
Curated Phenotype Datasets
These datasets are sorted alphabetically by title.
Additional Datasets
These datasets are minimally curated and are sorted alphabetically by title.
- An association of CYP2A6 genotype and smoking topography
- EGFR mutations, expression, amplification, polymorphisms in the NCI60 cell lines
- Framingham SNP Health Association Resource (SHARe)
- Identification of Genetic Variants Associated with Expression Differences between Populations
- Pharmacogenetic Pathway Analysis of Irinotecan
- PHARMACOKINETICS OF ERLOTINIB and ERLOTINIB induced TOXICITY
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Common Searches
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Non-Curated Publications
A list of non-curated publications that mention this disease is available.