Peutz-Jeghers syndrome

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Inclusion Criteria:

  • Two or more histologically confirmed PJS-type hamartomatous polyps OR
  • Any number of PJS-type polyps detected in one individual who has a confirmed family history of PJS in FDR


  • Characteristic mucocutaneous pigmentation in an individual who has a confirmed family history of PJS OR
  • Any number of PJS-type polyps in an individual who also has characteristic mucocutaneous pigmentation.

Unaffected individuals should not be recruited in this disorder. Recruitment should favour multiplex families over single isolated cases. These singleton recruits will not contribute to the overall singleton monitoring metrics applied to GMCs.

Exclusion Criteria:

Prior genetic testing guidance 

  • Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.
  • Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Prior genetic testing genes

 Testing as below is strongly recommended PRIOR TO RECRUITMENT to allow appropriate management of families with readily detectable mutations in known disease genes:

  • STK11

Closing statement

These requirements will be kept under continual review during the main programme and may be subject to change.

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