PHTS guideline
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ERN GENTURIS cancer surveillance guideline for individuals with PTEN hamartoma tumour syndrome (PHTS)
Authors: Nicoline Hoogerbrugge, Ana Blatnik, Charlotte Kvist Lautrup, Robert Hüneburg, Daniela Turchetti, PHTS Guideline Group, Emma Tham, Sjaak Pouwels, Marc Tischkowitz
This is an update of the ERN GENTURIS guidelines for cancer surveillance in individuals with PTEN hamartoma tumour syndrome (PHTS) published on 12 June 2020 as new evidence on cancer risks and the effectiveness of surveillance has been published since the last iteration of this guideline. |
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Full guideline document |
Journal Publication1 |
Pocket guide2 |
Plain language summary3 |
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Download the complete guidelines here. |
Published online on 16 July 2026 in the European Journal of Human Genetics: 10.1038/s41431-026-02181-z |
The guide is available in the following languages (click on a flag to download the corresponding language version):
Translations of the updated pocket guide are currently being prepared |
The plain language summary is available in the following languages (click on a flag to download the corresponding language version):
Translations of the updated plain language summary are currently being prepared |
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1 The journal publication is a concise version of the full guideline document, published in a peer-reviewed journal. 2 The pocket guide is the guideline summary presented on a pocket card. 3 The plain language summary provides a clear summary of the guideline using non-technical language, making it accessible to a wider network of readers including patients. |
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Other relevant ERN GENTURIS information
ERN GENTURIS guideline development policy
ERN GENTURIS developed a policy regarding guideline development which is based on the principles of Grading of Recommendations Assessment, Development and Evaluation (GRADE) to ensure the quality of the guidelines, but is tailored for rare disease guidelines, using an “enhanced GRADE’ approach to mitigate the challenges associated with rare disease research (please see "Evidence evaluation in rare disease guidelines: a methodological perspective"). This approach includes a comprehensive literature search with expert opinion (from clinicians with expertise in the disease as well as patients), to ensure that guidelines are both evidence-based and clinically relevant to the complex needs of rare disease populations. More details can be found in our guideline development policy and terms of reference.
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ERN GENTURIS website summary |
Clinical practice guidelines |
ERN GENTURIS care pathway |
ERN GENTURIS patient journey |
ERN GENTURIS publications |
ERN GENTURIS webinars |
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Written by ERN GENTURIS |
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Patient journey - PTEN hamartoma tumour syndrome (PHTS)*
Patient journey – Counselling on reproductive options for individuals with a cancer predisposition syndrome (CPS) and relevant family members (Translations **) |
Thematic Group 4: Other rare – predominantly malignant – genturis |
ERN GENTURIS webinars - Thematic group 4: Other rare genturis |
*An updated version of the PHTS patient journey is currently being prepared
**Translations in multiple languages are available on our patient journey page