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.
Thematic Group 3: Hereditary breast and ovarian cancer syndrome
Thematic Group 4: other rare - predominantly malignant - genturis
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Genturis syndrome |
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Publication date |
DOI |
Date of ERN GENTURIS endorsement |
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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 |
August 2022 |
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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 |
September 2021 |
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Genturis syndrome |
Title |
Author |
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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 |
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Genturis syndrome |
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Date of ERN GENTURIS endorsement |
| Polyposis syndromes | Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision | Gloria Zaffaroni et al. | British Journal of Surgery | May 2024 | doi.org/10.1093/bjs/znae070 | October 2024 |
| 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 |
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Genturis syndrome |
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Author |
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DOI |
Date of ERN GENTURIS endorsement |
| Hereditary breast and ovarian cancer syndrome | Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline | C. Sessa et al. | Annals of Oncology | Jan 2023, ePub 25 Oct 2022 | doi.org/10.1016/j.annonc.2022.10.004 | October 2024 |
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Hereditary breast and ovarian cancer syndrome |
EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer |
Trudi McDevitt et al. |
European Journal of Human Genetics |
May 2024, ePub 5 Mar 2024 |
doi.org/10.1038/s41431-023-01507-5 |
September 2024 |
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Genturis syndrome |
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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 |