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PTEN gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

PTEN gene

The PTEN gene acts as a crucial tumor suppressor, regulating cell division and preventing uncontrolled growth that can lead to tumor formation.

Normal Function

The PTEN gene provides instructions for making an enzyme that is found in almost all tissues in the body. The enzyme acts as a tumor suppressor, which means that it helps regulate cell division by keeping cells from growing and dividing (proliferating) too rapidly or in an uncontrolled way. To function, the PTEN enzyme attaches (binds) to another PTEN enzyme (dimerizes) then binds to the cell membrane. The PTEN enzyme modifies other proteins and fats (lipids) by removing phosphate groups. Enzymes with this function are called phosphatases.

The PTEN enzyme is 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 this enzyme also helps control cell movement (migration), the sticking (adhesion) of cells to surrounding tissues, and the formation of new blood vessels (angiogenesis). Additionally, it likely plays a role in maintaining the stability of a cell's genetic information.

Health Conditions Related to Genetic Changes

Bannayan-Riley-Ruvalcaba syndrome

More than 30 mutations in the PTEN gene have been found to cause Bannayan-Riley-Ruvalcaba syndrome. Common features include a large head size (macrocephaly), multiple noncancerous tumors called hamartomas, and dark freckles on the penis in males. This condition is part of the PTEN hamartoma tumor syndrome.

Breast cancer

Inherited mutations in the PTEN gene increase the risk of developing breast cancer, often as part of Cowden syndrome. Noninherited (somatic) mutations can also occur, impairing the tumor suppressor function and allowing cells to grow and divide without control.

Cowden syndrome

Researchers have identified more than 300 mutations in the PTEN gene that cause Cowden syndrome or Cowden-like syndrome. These conditions are characterized by the growth of multiple hamartomas and an increased risk of breast, thyroid, and endometrial cancers.

Autism spectrum disorder

PTEN gene mutations have been identified in individuals with both an unusually large head size and features of autism spectrum disorder. Researchers are currently studying the relationship between these mutations and the risk of developing the disorder.

Prostate cancer

Studies suggest that somatic mutations in the PTEN gene may be the most frequent genetic changes in prostate cancer, reducing the tumor suppressor function and contributing to the growth of cancerous tumors.

Other disorders and cancers

PTEN mutations are associated with several other conditions, including:

  • PTEN hamartoma tumor syndrome: A group of related conditions caused by mutations that prevent the gene from producing functional enzyme.
  • Segmental overgrowth: Some individuals with PTEN mutations exhibit asymmetric overgrowth of tissues, sometimes referred to as SOLAMEN syndrome or type 2 segmental Cowden syndrome.
  • Other cancers: Somatic mutations are common in endometrial cancer, glioblastomas, astrocytomas, and melanoma.

Other Names for This Gene

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

Frequently Asked Questions

Individuals with an inherited PTEN mutation, often associated with Cowden syndrome, face a significantly elevated lifetime risk of breast cancer, estimated between 25 and 85 percent. This risk is notably higher than the general population average of about 12 to 13 percent. Because of this increased susceptibility, clinical guidelines typically recommend starting breast cancer screening earlier, often in the mid-20s or 30s, and utilizing more sensitive imaging techniques such as annual breast MRI in addition to mammography to detect abnormalities at an early stage. What are the specific early warning signs of Bannayan-Riley-Ruvalcaba syndrome that might lead to a PTEN genetic test in a young child?::Early indicators often include macrocephaly, where the child's head circumference is significantly larger than expected for their age, which is frequently one of the first noticeable features. Other signs include the presence of multiple hamartomas, which are noncancerous growths that can appear in the skin, intestines, or other tissues, as well as characteristic dark freckling on the penis in males. If a child presents with these physical traits, particularly the combination of a large head size and multiple skin or tissue growths, clinicians may recommend genetic testing to confirm a PTEN-related disorder. Can PTEN mutations be inherited, and what are the implications for family members if one person is diagnosed?::Yes, PTEN mutations that cause conditions like Cowden syndrome or Bannayan-Riley-Ruvalcaba syndrome are typically inherited in an autosomal dominant pattern. This means that only one copy of the altered gene is sufficient to cause the condition, and it can be passed from an affected parent to a child with a 50 percent chance. If an individual is diagnosed with a pathogenic PTEN variant, first-degree relatives such as children, siblings, and parents should be offered genetic counseling and testing to determine if they carry the mutation, as this allows for appropriate surveillance and early intervention for associated health risks.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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