STK11 Gene Mutations

Peutz-Jeghers Syndrome (PJS)




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Additional Information

STK11 gene

Associated Syndrome Name: Peutz-Jeghers Syndrome (PJS)

STK11 Summary Cancer Risk Table

Cancer Genetic Cancer Risk
ColorectalHigh Risk
EndometrialHigh Risk
Female BreastHigh Risk
GastricHigh Risk
OvarianHigh Risk
PancreaticHigh Risk
OtherHigh Risk

STK11 gene Overview

Peutz-Jeghers Syndrome (PJS) 1, 2, 3, 4, 5
  • Individuals with mutations in the STK11 gene have a condition called Peutz-Jeghers Syndrome (PJS).
  • Women with PJS 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 PJS have high risks for a variety of other cancers, including colorectal, endometrial, gastric, pancreatic, small bowel, cervical and lung cancers. These cancers are often diagnosed at relatively young ages.
  • The cervical cancer associated with PJS, adenoma malignum, which is also known as minimal deviation adenocarcinoma (MDA), may be difficult to diagnose.
  • Women with PJS have an increased risk for ovarian neoplasms, including adenocarcinomas. However, sex cord tumors are the most common ovarian tumor found in these patients.
  • Males with PJS have an increased risk for testicular tumors, particularly large cell calcifying Sertoli cell tumors (LCCSCT). These tumors have a low risk for malignancy, but if left untreated may lead to feminizing changes, advanced skeletal age and short stature.
  • Patients with PJS are likely to develop hamartomatous gastrointestinal polyps with a distinctive Peutz-Jeghers histology. The most common location of these polyps is the small bowel, but they may also be found in the stomach, colon and nasal passages. Polyps may require treatment due to bleeding with subsequent anemia, recurrent obstruction and/or intussusception.
  • Patients with PJS are likely to develop pigmented spots around the mouth, eyes, nostrils, anus and on the fingers during childhood. These spots are usually present by age 5 and often fade during puberty and adulthood.
  • Although there are high risks for cancer and other medical problems in patients with PJS syndrome, these risks can be reduced with appropriate medical management. Guidelines from the National Comprehensive Cancer Network (NCCN) are listed below, and additional detailed discussions of medical management options are also available from other sources (see van Lier MG et al., Am J Gastroenterol. 2010, 105:1258-64 and Beggs AD et al. Gut. 2010, 59:975-86). Due to the complexity of the condition it is recommended that patients with STK11 mutations and a diagnosis of PJS be managed by a multidisciplinary team with experience in the prevention and treatment of the complications associated with this condition.

STK11 gene Cancer Risk Table

Cancer Type Age Range Cancer Risk Risk for General Population
ColorectalTo age 702, 4, 639%1.8%
PancreaticTo age 702, 4, 611%-36%0.5%
Female BreastTo age 704, 645%-50%7.1%
GastricTo age 702, 4, 629%0.4%
Small BowelTo age 702, 4, 613%0.1%
OvarianTo age 704, 618%-21%0.7%
EndometrialTo age 702, 4, 69%1.7%
CervicalTo age 702, 4, 610%0.5%
TesticularTo age 702, 6Elevated risk0.4%
LungTo age 702, 4, 615%-17%2.2%

STK11 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)
ColorectalColonoscopy4, 7, 8Baseline at age 8, or earlier if symptomatic, with follow-up as neededEvery 2 to 3 years after age 18
PancreaticMagnetic resonance cholangiopancreatography (MRCP) with contrast or endoscopic ultrasound (EUS).4, 7, 1130 to 35 years, or 10 years younger than the earliest age of diagnosis in the familyEvery 1 to 2 years
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.7, 1218 yearsNA
Clinical breast examination425 yearsEvery 6 months
Mammography and breast MRI with contrast4, 925 yearsAnnually
GastricUpper endoscopy4, 7, 8, 10Baseline at age 8, or earlier if symptomatic, with follow up as neededEvery 2 to 3 years after age 18
Small BowelSmall bowel visualization with CT, MRI enterography or video capsule endoscopy4, 7, 8Baseline at 8 years, or earlier if symptomatic, with follow up as needed, but no later than age 18Every 2 to 3 years after age 18
OvarianPhysical exam, monitor for precocious puberty8ChildhoodAnnually
Pelvic examination4, 718 to 25 yearsAnnually
Consider transvaginal ultrasound.4, 725 yearsAnnually
EndometrialPelvic examination4, 718 to 25 yearsAnnually
Consider transvaginal ultrasound.4, 725 yearsAnnually
CervicalPap smear4, 718 to 25 yearsAnnually
TesticularPhysical and testicular examination and observation for feminizing changes.4, 7, 8ChildhoodAnnually
LungProvide education about symptoms and smoking cessation.4As neededAs needed

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 STK11 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.

Since STK11 mutations carry a risk for complications in children and some screenings are recommended to begin by age 8, consideration should be given to the possibility of mutation testing in childhood.

There are reports of cases where individuals with a mutation in STK11 have not inherited the mutation from a parent. In these cases the mutation has developed spontaneously in that individual (a de novo mutation). Once this occurs, the children of that individual are each at 50% risk of inheriting the mutation.1


  1. McGarrity TJ, et al. Peutz-Jeghers Syndrome. 2016 Jul 14. In: Pagon RA, et al., editors. GeneReviews® [Internet]. Available from PMID: 20301443.
  2. van Lier MG, et al. High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations. Am J Gastroenterol. 2010 105:1258-64. PMID: 20051941.
  3. Banno K, et al. Hereditary gynecological tumors associated with Peutz-Jeghers syndrome (Review). Oncol Lett. 2013 6:1184-1188. PMID: 24179492.
  4. Provenzale D, et al. NCCN Clinical Practice Guidelines in Oncology® Genetic/Familial High-Risk Assessment: Colorectal. V 3.2019. Dec 13. Available at
  5. Beggs AD, et al. Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut. 2010 59:975-86. PMID: 20581245.
  6. Fast Stats: An interactive tool for access to SEER cancer statistics. Surveillance Research Program, National Cancer Institute. (Accessed on 1-2-2017)
  7. Syngal S, et al. ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol. 2015 110:223-62. PMID: 25645574.
  8. Achatz MI, et al. Cancer Screening Recommendations and Clinical Management of Inherited Gastrointestinal Cancer Syndromes in Childhood. Clin Cancer Res. 2017 23:e107-e114. PMID: 28674119.
  9. 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
  10. Ajani JA, et al. NCCN Clinical Practice Guidelines in Oncology®: Gastric Cancer. V 4.2019. Dec 20. Available at
  11. Goggins M, et al. Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the International Cancer of the Pancreas Screening (CAPS) Consortium. Gut. 2020 69:7-17. PMID: 31672839.
  12. Bevers TB, et al. NCCN Clinical Practice Guidelines in Oncology®: Breast Cancer Screening and Diagnosis. V 1.2019. May 17. Available at
Last Updated on 10-Dec-2020