Gene:
TP53
tumor protein p53

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB contains no drug labels with pharmacogenomic information for this . To report a drug label with PGx, click here.

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

To see more Clinical Variants with lower levels of criteria, click the button at the bottom of the table.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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This is a non-comprehensive list of genetic tests with pharmacogenetics relevance, typically submitted by the manufacturer and manually curated by PharmGKB. The information listed is provided for educational purposes only and does not constitute an endorsement of any listed test or manufacturer.

A more complete listing of genetic tests is found at the Genetic Testing Registry (GTR).

PGx Test Variants Assayed Related Drugs?

The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page on the appropriate tab.

Links in the "Drugs" column lead to PharmGKB Drug Pages.

Variant?
(138)
Alternate Names / Tag SNPs ? Drugs ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available CA VA
rs1042522 -278-661C>G, 16397C>G, 215C>G, 7182846G>C, 7579472G>C, 98C>G, P53:Arg72Pro, Pro33Arg, Pro72Arg, R72P, TP53 Arg72Pro, mRNA 412C>G, p.Pro72Arg, p52 codon 72
G > C
5' Flanking
Pro33Arg
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 138

Overview

Alternate Names:  Li-Fraumeni syndrome
Alternate Symbols:  LFS1; p53
PharmGKB Accession Id: PA36679

Details

Cytogenetic Location: chr17 : p13.1 - p13.1
GP mRNA Boundary: chr17 : 7571720 - 7590863
GP Gene Boundary: chr17 : 7568720 - 7600863
Strand: minus
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

  1. Doxorubicin Pathway (Cancer Cell), Pharmacodynamics
    Representation of the candidate genes involved in the action of doxorubicin in a stylized cancer cell.
  1. Fluoropyrimidine Pathway, Pharmacodynamics
    Model non-tissue-specific cancer cell displaying genes which may be involved in the pharmacodynamics of the fluoropyrimidines, 5-fluorouracil (5-FU), capecitabine and tegafur.

External Pathways

Links to non-PharmGKB pathways.

  1. apoptotic signaling in response to dna damage - (BioCarta via Pathway Interaction Database)
  2. atm signaling pathway - (BioCarta via Pathway Interaction Database)
  3. Aurora A signaling - (Pathway Interaction Database NCI-Nature Curated)
  4. BARD1 signaling events - (Pathway Interaction Database NCI-Nature Curated)
  5. btg family proteins and cell cycle regulation - (BioCarta via Pathway Interaction Database)
  6. cell cycle: g1/s check point - (BioCarta via Pathway Interaction Database)
  7. cell cycle: g2/m checkpoint - (BioCarta via Pathway Interaction Database)
  8. chaperones modulate interferon signaling pathway - (BioCarta via Pathway Interaction Database)
  9. Class I PI3K signaling events mediated by Akt - (Pathway Interaction Database NCI-Nature Curated)
  10. double stranded rna induced gene expression - (BioCarta via Pathway Interaction Database)
  11. estrogen responsive protein efp controls cell cycle and breast tumors growth - (BioCarta via Pathway Interaction Database)
  12. hypoxia and p53 in the cardiovascular system - (BioCarta via Pathway Interaction Database)
  13. Hypoxic and oxygen homeostasis regulation of HIF-1-alpha - (Pathway Interaction Database NCI-Nature Curated)
  14. overview of telomerase protein component gene htert transcriptional regulation - (BioCarta via Pathway Interaction Database)
  15. p53 signaling pathway - (BioCarta via Pathway Interaction Database)
  16. p75(NTR)-mediated signaling - (Pathway Interaction Database NCI-Nature Curated)
  17. PLK3 signaling events - (Pathway Interaction Database NCI-Nature Curated)
  18. rb tumor suppressor/checkpoint signaling in response to dna damage - (BioCarta via Pathway Interaction Database)
  19. regulation of cell cycle progression by plk3 - (BioCarta via Pathway Interaction Database)
  20. Regulation of glucocorticoid receptor - (Pathway Interaction Database NCI-Nature Curated)
  21. regulation of transcriptional activity by pml - (BioCarta via Pathway Interaction Database)
  22. role of brca1 brca2 and atr in cancer susceptibility - (BioCarta via Pathway Interaction Database)
  23. Signaling events mediated by HDAC Class III - (Pathway Interaction Database NCI-Nature Curated)
  24. Signaling mediated by p38-alpha and p38-beta - (Pathway Interaction Database NCI-Nature Curated)
  25. Stabilization of p53 - (Reactome via Pathway Interaction Database)
  26. telomeres telomerase cellular aging and immortality - (BioCarta via Pathway Interaction Database)
  27. tumor suppressor arf inhibits ribosomal biogenesis - (BioCarta via Pathway Interaction Database)
No related genes are available

Curated Information ?

Evidence Drug Class
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
antineoplastic agents

Curated Information ?

Publications related to TP53: 45

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ESR1 ligand-binding domain mutations in hormone-resistant breast cancer. Nature genetics. 2013. Toy Weiyi, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Pharmacogenomics of cisplatin-based chemotherapy in ovarian cancer patients of different ethnic origins. Pharmacogenomics. 2012. Khrunin Andrey, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Key pathways are frequently mutated in high risk childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group. Blood. 2011. Zhang Jinghui, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Identification of potential pharmacogenomic markers of clinical efficacy of 5-fluorouracil in colorectal cancer. International journal of cancer. Journal international du cancer. 2011. Nobili Stefania, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Doxorubicin pathways: pharmacodynamics and adverse effects. Pharmacogenetics and genomics. 2010. Thorn Caroline F, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Distribution of TYMS, MTHFR, p53 and MDR1 gene polymorphisms in patients with breast cancer treated with neoadjuvant chemotherapy. Cancer epidemiology. 2010. Henríquez-Hernández Luis Alberto, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Nucleotide excision repair gene polymorphisms may predict acute toxicity in patients treated with chemoradiotherapy for bladder cancer. Pharmacogenomics. 2010. Sakano Shigeru, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
A large-scale candidate gene approach identifies SNPs in SOD2 and IL13 as predictive markers of response to preoperative chemoradiation in rectal cancer. The pharmacogenomics journal. 2010. Ho-Pun-Cheung A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Changes in the gene expression profile of gastric cancer cells in response to ibuprofen: a gene pathway analysis. The pharmacogenomics journal. 2010. Bonelli P, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Gene network analysis of oxidative stress-mediated drug sensitivity in resistant ovarian carcinoma cells. The pharmacogenomics journal. 2010. Maiti A K. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
5-Aza-2'-deoxycytidine sensitizes busulfan-resistant myeloid leukemia cells by regulating expression of genes involved in cell cycle checkpoint and apoptosis. Leukemia research. 2010. Valdez Benigno C, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Genetic polymorphisms and the efficacy and toxicity of cisplatin-based chemotherapy in ovarian cancer patients. The pharmacogenomics journal. 2010. Khrunin A V, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Interactions between MDM2 and TP53 Genetic Alterations, and Their Impact on Response to MDM2 Inhibitors and Other Chemotherapeutic Drugs in Cancer Cells. Clinical cancer research : an official journal of the American Association for Cancer Research. 2009. Liu Wanqing, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
TP53 R72P and MDM2 SNP309 polymorphisms in modification of childhood acute lymphoblastic leukemia susceptibility. Cancer genetics and cytogenetics. 2009. Do Thuy N, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Genomic approaches to outcome prediction in prostate cancer. Cancer. 2009. Febbo Phillip G. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
TP53 codon 72 polymorphism associated with prognosis in patients with advanced gastric cancer treated with paclitaxel and cisplatin. Cancer chemotherapy and pharmacology. 2009. Kim Jong Gwang, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Inhibition of serine/threonine phosphatase PP2A enhances cancer chemotherapy by blocking DNA damage induced defense mechanisms. Proceedings of the National Academy of Sciences of the United States of America. 2009. Lu Jie, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Prognostic significance of p53 codon 72 polymorphism differs with race in colorectal adenocarcinoma. Clinical cancer research : an official journal of the American Association for Cancer Research. 2009. Katkoori Venkat R, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Limits to thymidylate synthase and TP53 genes as predictive determinants for fluoropyrimidine sensitivity and further evidence for RNA-based toxicity as a major influence. Cancer research. 2009. Brody Jonathan R, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Resistance gene expression determines the in vitro chemosensitivity of non-small cell lung cancer (NSCLC). BMC cancer. 2009. Glaysher Sharon, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Prognostic role of p53 codon 72 polymorphism in gastric cancer patients treated with fluorouracil-based adjuvant chemotherapy. Journal of cancer research and clinical oncology. 2008. Huang Zhao-Hui, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Identification of a novel TP53 germline mutation E285V in a rare case of paediatric adrenocortical carcinoma and choroid plexus carcinoma. Journal of medical genetics. 2008. Russell-Swetek A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
An integrated genomic analysis of human glioblastoma multiforme. Science (New York, N.Y.). 2008. Parsons D Williams, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Core signaling pathways in human pancreatic cancers revealed by global genomic analyses. Science (New York, N.Y.). 2008. Jones Sin, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pathway based analysis of SNPs with relevance to 5-FU therapy: relation to intratumoral mRNA expression and survival. International journal of cancer. Journal international du cancer. 2008. Nordgard Silje H, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database. Nature genetics. 2008. Allen Nicole C, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
An oncogene-induced DNA damage model for cancer development. Science (New York, N.Y.). 2008. Halazonetis Thanos D, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Enhancement of antitumor activity of cisplatin in human lung cancer cells by tumor suppressor FUS1. Cancer gene therapy. 2008. Deng W-G, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
P53 codon 72 polymorphism and gastric cancer: a meta-analysis of the literature. International journal of cancer. Journal international du cancer. 2007. Zhou Yong, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmacogenetic assessment of toxicity and outcome after platinum plus taxane chemotherapy in ovarian cancer: the Scottish Randomised Trial in Ovarian Cancer. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2007. Marsh Sharon, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Gene expression response to cisplatin treatment in drug-sensitive and drug-resistant ovarian cancer cells. Oncogene. 2007. Li J, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Synergistic tumor suppression by coexpression of FUS1 and p53 is associated with down-regulation of murine double minute-2 and activation of the apoptotic protease-activating factor 1-dependent apoptotic pathway in human non-small cell lung cancer cells. Cancer research. 2007. Deng Wu-Guo, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Genomic signatures to guide the use of chemotherapeutics. Nature medicine. 2006. Potti Anil, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
The consensus coding sequences of human breast and colorectal cancers. Science (New York, N.Y.). 2006. Sjöblom Tobias, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes. American journal of human genetics. 2006. Wu Xifeng, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Effect of the codon 72 polymorphism (c.215G>C, p.Arg72Pro) in combination with somatic sequence variants in the TP53 gene on survival in patients with advanced ovarian carcinoma. Human mutation. 2004. Wang Yun, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Characterization of p53-mediated up-regulation of CD95 gene expression upon genotoxic treatment in human breast tumor cells. The Journal of biological chemistry. 2003. Ruiz-Ruiz Carmen, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Treatment-specific changes in gene expression discriminate in vivo drug response in human leukemia cells. Nature genetics. 2003. Cheok Meyling H, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Haplotype and linkage disequilibrium architecture for human cancer-associated genes. Genome research. 2002. Bonnen Penelope E, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
A p53 codon 72 polymorphism associated with prostate cancer development and progression in Japanese. Journal of biomedical science. 2003. Suzuki Kazuhiro, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
The role of p53 and pRB in apoptosis and cancer. Current opinion in genetics & development. 2002. Hickman Emma S, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Determinants of resistance to 2',2'-difluorodeoxycytidine (gemcitabine). Drug resistance updates : reviews and commentaries in antimicrobial and anticancer chemotherapy. 2002. Bergman Andries M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Role of apoptosis and apoptosis-related genes in cellular response and antitumor efficacy of anthracyclines. Current medicinal chemistry. 2001. Perego P, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
High incidence of secondary brain tumours after radiotherapy and antimetabolites. Lancet. 1999. Relling M V, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
p53 status and the efficacy of cancer therapy in vivo. Science (New York, N.Y.). 1994. Lowe S W, et al. PubMed