Endorsed guidelines

Clinical practice guidelines endorsed by ERN GENTURIS

ERN GENTURIS uses AGREE II as a tool for the endorsement of guidelines. The quality of the guideline is evaluated by at least two independent assessors through assessing the rigor and transparency of the guideline development process. The content of the guideline is not evaluated, although selection of the guideline for endorsement includes expert opinion on the usefulness of the content of the guideline.

 

ERN GENTURIS endorsed guidelines for Thematic Group 1: schwannomatosis and neurofibromatosis

Genturis syndrome

Title

Author

Journal

Publication date

DOI

Date of ERN GENTURIS endorsement

NF2-related schwannomatosis and non-NF2-related schwannomatosis

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation

Scott R Plotkin et al.

Genetics in Medicine

9 June 2022

doi.org/10.1016/ j.gim.2022.05.007

August 2022

Neurofibromatosis type 1

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Eric Legius et al.

Genetics in Medicine

19 May 2021

doi.org/10.1038/s41436-021-01170-5

September 2021

 

ERN GENTURIS endorsed guidelines for Thematic Group 2 Lynch syndrome and polyposis

Lynch syndrome

Genturis syndrome

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Author

Journal

Publication date

DOI

Date of ERN GENTURIS endorsement

Lynch syndrome The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome Emma J. Crosbie et al. Genetics in Medicine 28 March 2019 doi.org/10.1038/s41436-019-0489-y September 2021
Lynch syndrome Endoscopic management of Lynch syndrome and of familial risk of colorectal cancer: European Society of Gastrointestinal Endoscopy (ESGE) Guideline Monique E. van Leerdam et al. Endoscopy 9 October 2019 doi.org/10.1055/a-1016-4977 June 2021
Lynch syndrome European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender Toni T. Seppälä et al. British Journal of Surgery 26 May 2021 doi.org/10.1002/bjs.11902 June 2021
Hereditary colorectal cancer Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG) Kevin J Monahan et al. Gut 28 November 2019 doi.org/10.1136/gutjnl-2019-319915 June 2021

 

Polyposis syndromes

Genturis syndrome

Title

Author

Journal

Publication date

DOI

Date of ERN GENTURIS endorsement

Polyposis syndromes Endoscopic management of polyposis syndromes: European Society of Gastrointestinal Endoscopy (ESGE) Guideline Monique E van Leerdam et al. Endoscopy 23 July 2019 doi.org/10.1055/a-0965-0605 September 2021
Peutz-Jeghers Syndrome The Management of Peutz-Jeghers Syndrome: European Hereditary Tumour Group (EHTG) Guideline Anja Wagner et al. Journal of Clinical Medicine 27 January 2021 doi.org/10.3390/ jcm10030473 September 2021

 

ERN GENTURIS endorsed guidelines for Thematic Group 4: other rare - predominantly malignant - genturis

Genturis syndrome

Title

Author

Journal

Publication date

DOI

Date of ERN GENTURIS endorsement

BAP1 tumour predisposition syndrome Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome Fiona Lalloo et al. European Journal of Human Genetics 22 Aug 2023 doi.org/10.1038/s41431-023-01448-z February 2024
Von Hippel-Lindau Von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance Marie Louise M Binderup et al. European Journal of Medical Genetics 13 June 2022 doi.org/10.1016/ j.ejmg.2022.104538 June 2022
Nevoid basal cell carcinoma syndrome/Gorlin syndrome A guideline for the clinical management of basal cell naevus syndrome (Gorlin–Goltz syndrome) Babette J.A. Verkouteren et al. British Journal of Dermatology 1 Feb 2022 doi.org/10.1111/bjd.20700 June 2022
DICER1 syndrome Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group Jette J. Bakhuizen et al. Familial Cancer 25 June 2021 doi.org/10.1007/s10689-021-00264-y April 2021
Diffuse Gastric and Lobular Breast Cancer Syndrome Hereditary diffuse gastric cancer: updated clinical practice guidelines Vanessa R Blair et al. Lancet Oncology 3 August 2020 doi.org/10.1016/S1470-2045(20)30219-9 October 2020
Rhabdoid Tumour Predisposition Syndromes Small-Cell Carcinoma of the Ovary, Hypercalcemic Type – Genetics, New Treatment Targets, and Current Management Guidelines Marc Tischkowitz et al. Clinical Cancer Research 10 March 2020 doi.org/10.1158/1078-0432.CCR-19-3797 March 2020