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Genetics Home Reference: your guide to understanding genetic conditions
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PTEN

Reviewed September 2012

What is the official name of the PTEN gene?

The official name of this gene is “phosphatase and tensin homolog.”

PTEN is the gene's official symbol. The PTEN gene is also known by other names, listed below.

What is the normal function of the PTEN gene?

The PTEN gene provides instructions for making a protein that is found in almost all tissues in the body. The protein acts as a tumor suppressor, which means that it helps regulate the cycle of cell division by keeping cells from growing and dividing too rapidly or in an uncontrolled way. The PTEN protein is an enzyme that modifies other proteins and fats (lipids) by removing phosphate groups, which consist of three oxygen atoms and one phosphorus atom. This type of enzyme is called a phosphatase.

The PTEN protein acts as part of a chemical pathway that signals cells to stop dividing and triggers cells to self-destruct through a process called apoptosis. Evidence suggests that the PTEN protein also helps control cell movement (migration), the sticking (adhesion) of cells to surrounding tissues, and the formation of new blood vessels (angiogenesis). Additionally, the protein likely plays a role in maintaining the stability of a cell's genetic information. All of these functions help prevent uncontrolled cell growth that can lead to the formation of tumors.

Does the PTEN gene share characteristics with other genes?

The PTEN gene belongs to a family of genes called PTP (protein tyrosine phosphatases).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the PTEN gene related to health conditions?

Bannayan-Riley-Ruvalcaba syndrome - caused by mutations in the PTEN gene

More than 30 mutations in the PTEN gene have been found to cause Bannayan-Riley-Ruvalcaba syndrome. Common features of this condition include a large head size (macrocephaly), multiple noncancerous tumors and tumor-like growths called hamartomas, and dark freckles on the penis in males. Bannayan-Riley-Ruvalcaba syndrome is one of several related conditions that are often considered together as PTEN hamartoma tumor syndrome (described below).

Some of the mutations that cause Bannayan-Riley-Ruvalcaba syndrome change single DNA building blocks (base pairs) in the PTEN gene or insert or delete a small number of base pairs. Other mutations result in an abnormally short protein or reducing the amount of protein that is produced. In about 10 percent of cases, Bannayan-Riley-Ruvalcaba syndrome results from the deletion of a large amount of genetic material that includes part or all of the PTEN gene. All of these genetic changes prevent the PTEN protein from regulating cell proliferation effectively, which can lead to uncontrolled cell growth and the formation of hamartomas and other types of tumors. It is unclear how PTEN gene mutations cause macrocephaly and the other features of Bannayan-Riley-Ruvalcaba syndrome.

Cowden syndrome - caused by mutations in the PTEN gene

Researchers have identified more than 300 mutations in the PTEN gene that can cause Cowden syndrome or a similar disorder called Cowden-like syndrome. These conditions are characterized by the growth of multiple hamartomas and an increased risk of developing certain cancers, particularly breast cancer, thyroid cancer, and cancer of the uterine lining (endometrial cancer). Cowden syndrome and Cowden-like syndrome are considered to be part of PTEN hamartoma tumor syndrome (described below).

Mutations that cause Cowden syndrome and Cowden-like syndrome include changes in a small number of base pairs and, in some cases, deletions of a larger amount of genetic material from the PTEN gene. These mutations lead to the production of a PTEN protein that does not function properly or does not work at all. The defective protein is unable to restrain cell division or signal abnormal cells to die, which contributes to the development of hamartomas and cancerous tumors.

other disorders - caused by mutations in the PTEN gene

Several related conditions caused by mutations in the PTEN gene, including Bannayan-Riley-Ruvalcaba syndrome and Cowden syndrome, are often considered together as PTEN hamartoma tumor syndrome. The mutations that cause these conditions are present in cells throughout the body and are often inherited from a parent. Some of the mutations that cause PTEN hamartoma tumor syndrome lead to a defective version of the PTEN protein that cannot perform its function as a tumor suppressor. Other mutations prevent the PTEN gene from producing any protein at all. Without functional PTEN protein, cell division is not controlled effectively and damaged cells continue to divide inappropriately, leading to the development of hamartomas and other tumors.

In some published case reports, mutations in the PTEN gene have been associated with Proteus syndrome, a rare condition characterized by asymmetric overgrowth of the bones, skin, and other tissues. However, many researchers now believe that individuals with PTEN gene mutations and asymmetric overgrowth do not meet the strict guidelines for a diagnosis of Proteus syndrome. Instead, these individuals have a condition that is considered part of PTEN hamartoma tumor syndrome. One name that has been proposed for the condition is segmental overgrowth, lipomatosis, arteriovenous malformations, and epidermal nevus (SOLAMEN) syndrome; another is type 2 segmental Cowden syndrome. However, some scientific articles still refer to PTEN-related Proteus syndrome.

PTEN gene mutations have been identified in several people who have both an unusually large head size (macrocephaly) and the characteristic features of autism, a developmental disorder that affects communication and social interaction. Many of these mutations change single protein building blocks (amino acids) in the PTEN protein or lead to the production of an abnormally short version of the protein. It is unknown how changes in the PTEN gene are related to the risk of developing autism. Some of these mutations have also been reported in families with PTEN hamartoma tumor syndrome, and it is unclear how these mutations can cause different disorders.

other cancers - associated with the PTEN gene

Somatic (noninherited) mutations in the PTEN gene are among the most common genetic changes found in human cancers. Unlike the mutations that cause PTEN hamartoma tumor syndrome, these mutations are acquired during a person's lifetime and are present only in tumor cells.

PTEN gene mutations have been reported in many types of cancer, and studies suggest that PTEN may be the most frequently mutated gene in prostate cancer and endometrial cancer. PTEN gene mutations are also commonly found in brain tumors called glioblastomas and astrocytomas, and in an aggressive form of skin cancer called melanoma. Mutations in the PTEN gene result in an altered protein that has lost its tumor suppressor function. The loss of this protein's function likely permits certain cells to divide uncontrollably, contributing to the growth of cancerous tumors. In some cases, the presence of PTEN gene mutations is associated with more advanced stages of tumor growth.

Where is the PTEN gene located?

Cytogenetic Location: 10q23.3

Molecular Location on chromosome 10: base pairs 87,863,437 to 87,970,344

The PTEN gene is located on the long (q) arm of chromosome 10 at position 23.3.

The PTEN gene is located on the long (q) arm of chromosome 10 at position 23.3.

More precisely, the PTEN gene is located from base pair 87,863,437 to base pair 87,970,344 on chromosome 10.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about PTEN?

You and your healthcare professional may find the following resources about PTEN helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the PTEN gene or gene products?

  • MMAC1
  • mutated in multiple advanced cancers 1
  • phosphatase and tensin homolog deleted on chromosome 10
  • phosphatase and tensin homolog (mutated in multiple advanced cancers 1)
  • Protein-tyrosine phosphatase PTEN
  • PTEN1
  • PTEN_HUMAN
  • PTEN-MMAC1 protein
  • TEP1
  • TEP1 phosphatase

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding PTEN?

acids ; angiogenesis ; apoptosis ; arteriovenous ; atom ; autism ; cancer ; cell ; cell division ; cell proliferation ; chromosome ; deletion ; diagnosis ; DNA ; endometrial ; enzyme ; gene ; hamartoma ; inherited ; kinase ; macrocephaly ; melanoma ; oxygen ; phosphatase ; phosphate ; phosphorus ; proliferation ; prostate ; protein ; syndrome ; thyroid ; tumor ; tyrosine

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Baker SJ. PTEN enters the nuclear age. Cell. 2007 Jan 12;128(1):25-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17218252?dopt=Abstract)
  • Blumenthal GM, Dennis PA. PTEN hamartoma tumor syndromes. Eur J Hum Genet. 2008 Nov;16(11):1289-300. doi: 10.1038/ejhg.2008.162. Epub 2008 Sep 10. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18781191?dopt=Abstract)
  • Butler MG, Dasouki MJ, Zhou XP, Talebizadeh Z, Brown M, Takahashi TN, Miles JH, Wang CH, Stratton R, Pilarski R, Eng C. Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. J Med Genet. 2005 Apr;42(4):318-21. (http://www.ncbi.nlm.nih.gov/pubmed/15805158?dopt=Abstract)
  • Eng C. PTEN: one gene, many syndromes. Hum Mutat. 2003 Sep;22(3):183-98. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12938083?dopt=Abstract)
  • Gene Review: PTEN Hamartoma Tumor Syndrome (PHTS) (http://www.ncbi.nlm.nih.gov/books/NBK1488)
  • Hamada K, Sasaki T, Koni PA, Natsui M, Kishimoto H, Sasaki J, Yajima N, Horie Y, Hasegawa G, Naito M, Miyazaki J, Suda T, Itoh H, Nakao K, Mak TW, Nakano T, Suzuki A. The PTEN/PI3K pathway governs normal vascular development and tumor angiogenesis. Genes Dev. 2005 Sep 1;19(17):2054-65. Epub 2005 Aug 17. (http://www.ncbi.nlm.nih.gov/pubmed/16107612?dopt=Abstract)
  • Herman GE, Butter E, Enrile B, Pastore M, Prior TW, Sommer A. Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly. Am J Med Genet A. 2007 Mar 15;143A(6):589-93. (http://www.ncbi.nlm.nih.gov/pubmed/17286265?dopt=Abstract)
  • He X, Ni Y, Wang Y, Romigh T, Eng C. Naturally occurring germline and tumor-associated mutations within the ATP-binding motifs of PTEN lead to oxidative damage of DNA associated with decreased nuclear p53. Hum Mol Genet. 2011 Jan 1;20(1):80-9. doi: 10.1093/hmg/ddq434. Epub 2010 Oct 6. (http://www.ncbi.nlm.nih.gov/pubmed/20926450?dopt=Abstract)
  • Hollander MC, Blumenthal GM, Dennis PA. PTEN loss in the continuum of common cancers, rare syndromes and mouse models. Nat Rev Cancer. 2011 Apr;11(4):289-301. doi: 10.1038/nrc3037. Review. Erratum in: Nat Rev Cancer. 2011 Jun;11(6):458. (http://www.ncbi.nlm.nih.gov/pubmed/21430697?dopt=Abstract)
  • Marsh DJ, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PL, Zheng Z, Liaw D, Caron S, Duboué B, Lin AY, Richardson AL, Bonnetblanc JM, Bressieux JM, Cabarrot-Moreau A, Chompret A, Demange L, Eeles RA, Yahanda AM, Fearon ER, Fricker JP, Gorlin RJ, Hodgson SV, Huson S, Lacombe D, Eng C, et al. Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet. 1998 Mar;7(3):507-15. (http://www.ncbi.nlm.nih.gov/pubmed/9467011?dopt=Abstract)
  • Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, Dunn T, Feit H, Geraghty MT, Graham JM Jr, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, Parisi M, Pober B, Romano C, Eng C, et al. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet. 1999 Aug;8(8):1461-72. (http://www.ncbi.nlm.nih.gov/pubmed/10400993?dopt=Abstract)
  • Mester JL, Tilot AK, Rybicki LA, Frazier TW 2nd, Eng C. Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model. Eur J Hum Genet. 2011 Jul;19(7):763-8. doi: 10.1038/ejhg.2011.20. Epub 2011 Feb 23. (http://www.ncbi.nlm.nih.gov/pubmed/21343951?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/5728)
  • Shen WH, Balajee AS, Wang J, Wu H, Eng C, Pandolfi PP, Yin Y. Essential role for nuclear PTEN in maintaining chromosomal integrity. Cell. 2007 Jan 12;128(1):157-70. (http://www.ncbi.nlm.nih.gov/pubmed/17218262?dopt=Abstract)
  • Song MS, Salmena L, Pandolfi PP. The functions and regulation of the PTEN tumour suppressor. Nat Rev Mol Cell Biol. 2012 Apr 4;13(5):283-96. doi: 10.1038/nrm3330. Review. (http://www.ncbi.nlm.nih.gov/pubmed/22473468?dopt=Abstract)
  • Tan MH, Mester J, Peterson C, Yang Y, Chen JL, Rybicki LA, Milas K, Pederson H, Remzi B, Orloff MS, Eng C. A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. Am J Hum Genet. 2011 Jan 7;88(1):42-56. doi: 10.1016/j.ajhg.2010.11.013. Epub 2010 Dec 30. (http://www.ncbi.nlm.nih.gov/pubmed/21194675?dopt=Abstract)
  • Yin Y, Shen WH. PTEN: a new guardian of the genome. Oncogene. 2008 Sep 18;27(41):5443-53. doi: 10.1038/onc.2008.241. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18794879?dopt=Abstract)
  • Zbuk KM, Eng C. Cancer phenomics: RET and PTEN as illustrative models. Nat Rev Cancer. 2007 Jan;7(1):35-45. Epub 2006 Dec 14. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17167516?dopt=Abstract)
  • Zhou XP, Waite KA, Pilarski R, Hampel H, Fernandez MJ, Bos C, Dasouki M, Feldman GL, Greenberg LA, Ivanovich J, Matloff E, Patterson A, Pierpont ME, Russo D, Nassif NT, Eng C. Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway. Am J Hum Genet. 2003 Aug;73(2):404-11. Epub 2003 Jul 3. (http://www.ncbi.nlm.nih.gov/pubmed/12844284?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: September 2012
Published: December 22, 2014