PTEN Gene Mutations

PTEN Hamartoma Tumor Syndrome (PHTS)




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Additional Information

PTEN gene

Associated Syndrome Name: PTEN Hamartoma Tumor Syndrome (PHTS)

PTEN Summary Cancer Risk Table

Cancer Genetic Cancer Risk
ColorectalHigh Risk
EndometrialHigh Risk
Female BreastHigh Risk
MelanomaHigh Risk
OtherHigh Risk

PTEN gene Overview

PTEN Hamartoma Tumor Syndrome (PHTS) 1, 2, 3, 4
  • Individuals with PTEN mutations have PTEN Hamartoma Tumor Syndrome (PHTS).
  • Women with PHTS have a risk for breast cancer that is significantly increased over the 12.5% lifetime risk for women in the general population of the United States. Individuals with PHTS also have a significantly increased risk for colorectal, endometrial, thyroid, renal and melanoma cancers. These cancers are often diagnosed at relatively young ages.
  • A recent study has demonstrated that patients have a high risk for developing a second primary PHTS-associated cancer following their first diagnosis, and the risk may be particularly high for a second primary breast cancer.
  • Patients with PHTS often have a wide variety of other, non-malignant features of the condition, some of which may require medical attention. Examples are macrocephaly, colorectal polyps of various types, Lhermitte-Duclos disease (a hamartomatous brain tumor), and distinctive skin findings such as trichilemmomas, acral keratoses and papillomatous papules. Developmental delay and/or autism spectrum disorders may also be present.
  • A subset of patients with PHTS may have a diagnosis of other syndromes, such as Cowden Syndrome (CS), Bannayan-Riley-Ruvalcaba Syndrome (BRRS), PTEN-related Proteus Syndrome or Proteus-like Syndrome, based on other clinical features. Some of these conditions have features that may require intervention in infancy or childhood.
  • Although there are high risks for cancer in patients with PHTS, these risks can be reduced with appropriate medical management. Guidelines from the National Comprehensive Cancer Network (NCCN) are listed below. Management of patients with PHTS poses challenges due to the complexity of the condition and it is recommended that patients with PTEN mutations and a diagnosis of PHTS be managed by a multidisciplinary team with expertise in medical genetics and the care of patients with hereditary cancer syndromes.

PTEN gene Cancer Risk Table

Cancer Type Age Range Cancer Risk Risk for General Population
Overall Cancer Risk (male and female)To age 705, 6, 785%-89%20.9%
Female BreastTo age 704, 5, 6, 7, 877%-85%7.1%
EndometrialTo age 704, 5, 7, 819%-28%1.7%
ThyroidTo age 704, 5, 6, 7, 821%-38%0.9%
ColorectalTo age 704, 5, 7, 89%-16%1.8%
RenalTo age 704, 5, 7, 815%-34%0.8%
MelanomaTo age 704, 6, 7, 8Up to 6%1.1%
Other - Non-malignant features of PHTSAll ages1, 3, 4As described in the Overview above, PHTS is associated with non-malignant clinical features, some of which may require medical intervention as early as infancy.NA

PTEN Cancer Risk Management Table

The overview of medical management options provided is a summary of professional society guidelines. The most recent version of each guideline should be consulted for more detailed and up-to-date information before developing a treatment plan for a particular patient.

This overview is provided for informational purposes only and does not constitute a recommendation. While the medical society guidelines summarized herein provide important and useful information, medical management decisions for any particular patient should be made in consultation between that patient and his or her healthcare provider and may differ from society guidelines based on a complete understanding of the patient’s personal medical history, surgeries and other treatments.

Cancer Type Procedure Age to Begin Frequency
(Unless otherwise indicated by findings)
Overall Cancer RiskComprehensive physical examination, with particular attention to thyroid cancer. General education about the signs and symptoms of cancer.418 years or 5 years before the youngest age of a PHTS-related cancer in familyAnnually
Female BreastBreast awareness - Women should be familiar with their breasts and promptly report changes to their healthcare provider. Periodic, consistent breast self-examination (BSE) may facilitate breast awareness.418 yearsNA
Clinical breast examination425 years, or 5 to 10 years younger than the earliest diagnosis in the family, whichever comes first.Every 6 to 12 months
Mammography with consideration of tomosynthesis and breast MRI with contrast430 to 35 years, or 5 to 10 years younger than the earliest diagnosis in the family, whichever comes firstAnnually
Consider risk-reducing mastectomy.4IndividualizedNA
EndometrialPatient education about the importance of quickly seeking attention for endometrial cancer symptoms, such as abnormal bleeding or menstrual cycle irregularities4IndividualizedNA
Consider transvaginal ultrasound.4After menopauseIndividualized
Consider screening with endometrial biopsies.4Age 35Every 1 to 2 years
Consider hysterectomy.4After completion of childbearingNA
ThyroidThyroid ultrasound4Age 7Annually
ColorectalColonoscopy435 years, or 5 to 10 years younger than the earliest diagnosis in the family if a family member was diagnosed under age 40Every 5 years
RenalConsider renal ultrasound440 yearsEvery 1 to 2 years
MelanomaDermatology exam4IndividualizedAnnually
Other - Non-malignant features of PHTSComprehensive physical examination. Dermatologic management may be indicated for some patients. Consider psychomotor assessment in children and brain MRI if there are symptoms.418 years or earlier if symptoms are presentAnnually

Information for Family Members

The following information for Family Members will appear as part of the MMT for a patient found to have a mutation in the PTEN gene.

A major potential benefit of myRisk genetic testing for hereditary cancer risk is the opportunity to prevent cancer in relatives of patients in whom clinically significant mutations are identified. Healthcare providers have an important role in making sure that patients with clinically significant mutations are informed about the risks to relatives, and ways in which genetic testing can guide lifesaving interventions.

This patient's relatives are also at risk for the complications associated with Cowden Syndrome (CS), Bannayan-Riley-Ruvalcaba Syndrome (BRRS), PTEN-related Proteus syndrome and Proteus-like Syndrome, some of which may require medical attention in infancy or childhood.

Parents who are concerned about the possibility of passing on a PTEN mutation to a future child may want to discuss options for prenatal testing and assisted reproduction techniques, such as pre-implantation genetic diagnosis (PGD).4


  1. Eng C. PTEN Hamartoma Tumor Syndrome (PHTS). 2016 June 2. In: Pagon RA, et al., editors. GeneReviews® [Internet]. Available from PMID: 20301661.
  2. Ngeow J, et al. Second Malignant Neoplasms in Patients With Cowden Syndrome With Underlying Germline PTEN Mutations. J Clin Oncol. 2014 32:1818-24. PMID: 24778394.
  3. Pilarski R. Cowden syndrome: a critical review of the clinical literature. J Genet Couns. 2009 18:13-27. PMID: 18972196.
  4. Daly M et al. NCCN Clinical Practice Guidelines in Oncology®: Genetic/Familial High-Risk Assessment: Breast, Ovarian and Pancreatic. V 1.2020. Dec 4. Available at
  5. Riegert-Johnson DL, et al. Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients. Hered Cancer Clin Pract. 2010 8:6. PMID: 20565722.
  6. Bubien V, et al. High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. J Med Genet. 2013 50:255-63. PMID: 23335809.
  7. Fast Stats: An interactive tool for access to SEER cancer statistics. Surveillance Research Program, National Cancer Institute. (Accessed on 1-2-2017)
  8. Tan MH, et al. Lifetime cancer risks in individuals with germline PTEN mutations. Clin Cancer Res. 2012 18:400-7. PMID: 22252256.
Last Updated on 10-Dec-2020