Peutz-Jeghers syndrome

What causes Peutz-Jeghers syndrome?

Peutz-Jeghers syndrome (PJS) is caused by changes (mutations) in the STK11 gene. STK11 is a tumor suppressor gene which means that it encodes a protein that helps keep cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in STK11 result in a defective protein that is unable to carry out its normal role. This leads to the development of the polyps and tumors found in PJS.

Some people with PJS do not have mutations in the STK11 gene. In these cases, the cause is unknown.

Last updated on 05-01-20

How is Peutz-Jeghers syndrome diagnosed?

A diagnosis of Peutz-Jeghers syndrome (PJS) is based on the presence of characteristic signs and symptoms. In people with a clinical diagnosis of PJS, genetic testing of the STK11 gene confirms the diagnosis in approximately 100% of people who have a positive family history and approximately 90% of people who have no family history of PJS.

GeneReviews offers more detailed information regarding the diagnosis of PJS including the clinical diagnostic criteria. Click here to view this resource.

Last updated on 05-01-20

Is Peutz-Jeghers syndrome inherited?

Peutz-Jeghers syndrome (PJS) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with PJS has a 50% chance with each pregnancy of passing along the altered gene to his or her child.

Last updated on 05-01-20

Social Networking Websites

Peutz-Jeghers Syndrome Online Support Group

Peutz-Jeghers Syndrome Online Support Group is an online discussion forum where members dealing with Peutz-Jeghers Syndrome can share advice and support with other patients and caregivers.

Last updated on 04-27-20

Name: American Cancer Society 250 Williams Street NW
Atlanta, GA, 30329, United States
Toll Free: 1-800-227-2345 Url:
Name: Hereditary Colon Cancer Foundation 3519 NE 15th Avenue Unit 518
Portland, OR, 97212, United States
Phone: +1-334-740-8657 Email: Url:

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