PHTS guideline

Cancer surveillance guideline for individuals with PTEN Hamartoma Tumour Syndrome (PHTS) Authors: Dr. Marc Tischkowitz, United Kingdom; Dr. Chrystelle Colas, France; Dr. Sjaak Pouwels, The Netherlands; Prof. Nicoline Hoogerbrugge, The Netherlands.
Full guideline document	Journal Publication¹	Pocket guide²	Plain language summary³
Download the complete guidelines here.	Published online on 12 June 2020 in the European Journal for Human Genetics: https://doi.org/10.1038/s41431-020-0651-7	The guide is available in the following languages (click on a flag to download the corresponding language version):	The plain language summary is available in the following languages (click on a flag to download the corresponding language version):
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.

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.

ERN GENTURIS website summary

Clinical practice guidelines

ERN GENTURIS care pathway

ERN GENTURIS patient journey

ERN GENTURIS publications

ERN GENTURIS webinars

Written by ERN GENTURIS

PTEN hamartoma tumour syndrome (PHTS)

ERN GENTURIS guideline on counselling on reproductive options for individuals with a cancer predisposition syndrome (including genturis)

Care pathway - PTEN Hamartoma Tumour Syndrome (PHTS)

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 **)