Gene:
PTEN
phosphatase and tensin homolog

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 has no annotated drug labels with pharmacogenomic information for this . If you know of a drug label with PGx, send us a message.

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

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 No Clinical Annotations available VA
rs2299939 164+3284C>A, 38955C>A, 40461614C>A, 89657150C>A
C > A
Intronic
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 138

Overview

Alternate Names:  mutated in multiple advanced cancers 1
Alternate Symbols:  MMAC1; PTEN1; TEP1
PharmGKB Accession Id: PA33942

Details

Cytogenetic Location: chr10 : q23.31 - q23.31
GP mRNA Boundary: chr10 : 89623195 - 89728532
GP Gene Boundary: chr10 : 89613195 - 89731532
Strand: plus
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.

PharmGKB contains no curated pathways for this gene. If you would like to volunteer to work on a pathway, please let us know.

External Pathways

Links to non-PharmGKB pathways.

  1. BCR signaling pathway - (Pathway Interaction Database NCI-Nature Curated)
  2. Class I PI3K signaling events - (Pathway Interaction Database NCI-Nature Curated)
  3. ctcf: first multivalent nuclear factor - (BioCarta via Pathway Interaction Database)
  4. Downstream TCR signaling - (Reactome via Pathway Interaction Database)
  5. mtor signaling pathway - (BioCarta via Pathway Interaction Database)
  6. mTOR signaling pathway - (Pathway Interaction Database NCI-Nature Curated)
  7. Negative regulation of the PI3K/AKT network - (Reactome via Pathway Interaction Database)
  8. PDGFR-beta signaling pathway - (Pathway Interaction Database NCI-Nature Curated)
  9. pten dependent cell cycle arrest and apoptosis - (BioCarta via Pathway Interaction Database)
  10. regulation of eif-4e and p70s6 kinase - (BioCarta via Pathway Interaction Database)
  11. Signaling events activated by Hepatocyte Growth Factor Receptor (c-Met) - (Pathway Interaction Database NCI-Nature Curated)
  12. Signaling events mediated by Stem cell factor receptor (c-Kit) - (Pathway Interaction Database NCI-Nature Curated)
  13. skeletal muscle hypertrophy is regulated via akt-mtor pathway - (BioCarta via Pathway Interaction Database)
  14. TCR signaling in naïve CD4+ T cells - (Pathway Interaction Database NCI-Nature Curated)
No related genes are available

Curated Information ?

Evidence Drug
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
carboplatin
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
cisplatin

Curated Information ?

Evidence Disease
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Lung Neoplasms

Publications related to PTEN: 27

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Emerging landscape of oncogenic signatures across human cancers. Nature genetics. 2013. Ciriello Giovanni, 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
Caffeine activates tumor suppressor PTEN in sarcoma cells. International journal of oncology. 2011. Miwa Shinji, 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
Interaction networks of lithium and valproate molecular targets reveal a striking enrichment of apoptosis functional clusters and neurotrophin signaling. The pharmacogenomics journal. 2011. Gupta A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
PI3K/PTEN/AKT/mTOR pathway genetic variation predicts toxicity and distant progression in lung cancer patients receiving platinum-based chemotherapy. Lung cancer (Amsterdam, Netherlands). 2011. Pu Xia, 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 tests in cancer chemotherapy: what physicians should know for clinical application. The Journal of pathology. 2011. Lee Soo-Youn, 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
Pharmacogenomic contribution to drug response. Cancer journal (Sudbury, Mass.). 2011. Watson Roshawn 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
Evolving novel anti-HER2 strategies. The lancet oncology. 2009. Jones Kellie L, 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
Activation of the PI3K pathway in cancer through inhibition of PTEN by exchange factor P-REX2a. Science (New York, N.Y.). 2009. Fine Barry, 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 No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Personalized cancer therapy gets closer. Nature. 2009. Hayden Erika Check. 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 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
FBXW7 targets mTOR for degradation and cooperates with PTEN in tumor suppression. Science (New York, N.Y.). 2008. Mao Jian-Hua, 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
Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. American journal of human genetics. 2008. Ni Ying, 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
Differential expression of PTEN-targeting microRNAs miR-19a and miR-21 in Cowden syndrome. American journal of human genetics. 2008. Pezzolesi Marcus 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
Multi-genetic events collaboratively contribute to Pten-null leukaemia stem-cell formation. Nature. 2008. Guo Wei, 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 cancer biomarker problem. Nature. 2008. Sawyers Charles L. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Recurrent gross mutations of the PTEN tumor suppressor gene in breast cancers with deficient DSB repair. Nature genetics. 2008. Saal Lao 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
The genomic landscapes of human breast and colorectal cancers. Science (New York, N.Y.). 2007. Wood Laura 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
Cowden syndrome-affected patients with PTEN promoter mutations demonstrate abnormal protein translation. American journal of human genetics. 2007. Teresi Rosemary 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
Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. American journal of human genetics. 2006. Sarquis Marta 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
Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. American journal of human genetics. 2006. Delnatte Capucine, 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
Cancer and leukemia group B gastrointestinal cancer committee. Clinical cancer research : an official journal of the American Association for Cancer Research. 2006. Goldberg Richard 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
Rosiglitazone suppresses human lung carcinoma cell growth through PPARgamma-dependent and PPARgamma-independent signal pathways. Molecular cancer therapeutics. 2006. Han ShouWei, 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
PPAR-gamma modulates allergic inflammation through up-regulation of PTEN. The FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 2005. Lee Kyung 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
PTEN activation contributes to tumor inhibition by trastuzumab, and loss of PTEN predicts trastuzumab resistance in patients. Cancer cell. 2004. Nagata Yoichi, 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
Classification, subtype discovery, and prediction of outcome in pediatric acute lymphoblastic leukemia by gene expression profiling. Cancer cell. 2002. Yeoh Eng-Juh, et al. PubMed

LinkOuts

UniProtKB:
PTEN_HUMAN (P60484)
Ensembl:
ENSG00000171862
GenAtlas:
PTEN
GeneCard:
PTEN
MutDB:
PTEN
ALFRED:
LO059495G
HuGE:
PTEN
Comparative Toxicogenomics Database:
5728
ModBase:
P60484
HumanCyc Gene:
HS10404
HGNC:
9588

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