Publications
If your publication has co-authors from ERN GENTURIS member HCPs from two or more EU Member States, one of the following acknowledgements can be used:
If the authors of the publication originate from one EU Member State only, or if the journal does not allow a phrasing like the one above, you can use:
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Authors |
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DOI |
Remarks |
Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe) | Kornelia Ellwanger, et al. | Lab Animal | 24 June 2024 | doi.org/10.1038/s41684-024-01395-2 | |
European collaboration on genetic tumour risk syndromes |
Hildegunn Høberg-Vetti, et al. |
European Journal of Medical Genetics |
26 December 2022 |
European Journal of Medical Genetics - Special Issue ERN GENTURIS 2021-2022 |
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Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels? |
Emanuela Lucci-Cordisco, et al. |
European Journal of Medical Genetics |
20 November 2021 |
European Journal of Medical Genetics - Special Issue ERN GENTURIS 2021-2022 |
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Somatic mosaics in hereditary tumor predisposition syndromes |
Verena Steinke-Lange, et al. |
European Journal of Medical Genetics |
13 October 2021 |
European Journal of Medical Genetics - Special Issue ERN GENTURIS 2021-2022 |
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European Reference Networks: challenges and opportunities |
Birute Tumiene, et al. |
Journal of Community Genetics |
17 March 2021 |
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Continue rare cancers collaboration with European Reference Networks after Brexit |
Jean-Yves Blay, et al. |
Lancet |
27 February 2021 |
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A no-deal Brexit will be detrimental to people with rare diseases |
Marc Tischkowitz, et al. |
Lancet |
2 January 2021 |
The letter has a total of 73 signatories; 54 signatories from UK senior clinicians and researchers who were members of an ERN, as well as 19 signatories each representing a patient support group. |
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“Patient Journeys”: improving care by patient involvement |
Matt Bolz-Johnson, et al. |
European Journal of Human Genetics |
4 December 2019 |
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Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes |
Janet R. Vos, et al. |
Familial Cancer |
9 October 2018 |
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DOI |
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Lessons learned from drug trials in neurofibromatosis: A systematic review | Britt A. E. Dhaenens, et al. | European Journal of Medical Genetics | 5 July 2021 |
European Journal of Medical Genetics - Special Issue ERN GENTURIS 2021-2022 |
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Identifying challenges in neurofibromatosis: a modified Delphi procedure | Britt A. E. Dhaenens, et al. | European Journal of Human Genetics | 26 April 2021 |
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ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis | D. Gareth Evans, et al. | European Journal of Human Genetics | 1 April 2022 |
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ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1 | Charlotte Carton, et al. | eClinicalMedicine | 13 January 2023 |
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Treatment of cutaneous neurofibromas with carbon dioxide laser: Technique and patient experience | Sirkku Peltonen, et al. | European Journal of Medical Genetics | 9 November 2021 |
European Journal of Medical Genetics - Special Issue ERN GENTURIS 2021-2022 |
Title |
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DOI |
Remarks |
Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes – a collaborative multicentre endeavour within the project Solve-RD | Anna K. Sommer, et al. | European Journal of Medical Genetics | 11 March 2022 |
European Journal of Medical Genetics - Special Issue ERN GENTURIS 2021-2022 |
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MTHFR C677T and A1298C polymorphism’s effect on risk of colorectal cancer in Lynch syndrome | Mariann U. Wiik, et al. | Scientific Reports | 1 November 2023 |
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Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome | Nuria Dueñas, et al. | Journal of Medical Genetics | 15 June 2023 | doi.org/10.1136/jmg-2023-109344 | |
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium. | Pål Møller, et al. | Hereditary Cancer in Clinical Practice | 1 October 2022 | doi.org/10.1186/s13053-022-00241-1 | |
Non-coding aberrations in mismatch repair genes underlie a substantial part of the missing heritability in Lynch syndrome | Iris B. A. W. te Paske, et al. | Gastroenterology | 26 August 2022 | doi.org/10.1053/j.gastro.2022.08.041 |
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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 | 9 May 2024 | ||
Gene-specific ACMG/AMP classification criteria for constitutional APC variants: recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer / Polyposis Variant Curation Expert Panel | Isabel Spier, et al. | Genetics in Medicine | 3 October 2023 |
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Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence | Emadeldin Hassanin, et al. | BMC Medical Genomics | 5 March 2023 | doi.org/10.1186/s12920-023-01469-z | |
AXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature | Laura Roht, et al. | Molecular Genetics & Genomic Medicine | 1 March 2023 | doi.org/10.1002/mgg3.2157 | |
Wnt genes in colonic polyposis predisposition | Isabel Quintana, et al. | Genes & Diseases | 29 December 2022 | doi.org/10.1016/j.gendis.2022.12.002 |
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Germline mutations in WNK2 could be associated with serrated polyposis syndrome | Yasmin Soares de Lima, et al. | Journal of Medical Genetics | 21 October 2022 |
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The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2 | Snežana Hinić, et al. | Genetics in Medicine | 13 February 2024 | ||
Spectrum and frequency of CHEK2 variants in breast cancer affected and general population in the Baltic states region, initial results and literature review | Kristine Pavlovica, et al. | European Journal of Medical Genetics | 18 March 2022 |
European Journal of Medical Genetics - Special Issue ERN GENTURIS 2021-2022 |
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Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe | David Humberto Marmolejo, et al. | European Journal of Medical Genetics | 1 October 2021 |
European Journal of Medical Genetics - Special Issue ERN GENTURIS 2021-2022 |
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Blood Arsenic Levels as a Marker of Breast Cancer Risk among BRCA1 Carriers | Wojciech Marciniak, et al. | Cancers (Basel) | 3 July 2021 |
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DOI |
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Histopathological phenotyping of cancers in PTEN Hamartoma Tumor Syndrome for improved recognition: A single-center study | Ane J. Schei-Andersen, et al. | Int J Cancer | 11 June 2024 | ||
Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort | Linda A.J. Hendricks, et al. | European Journal of Medical Genetics | December 2022 |
European Journal of Medical Genetics - Special Issue ERN GENTURIS 2021-2022 |
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Cancer risks by sex and variant type in PTEN Hamartoma Tumor Syndrome | Linda A.J. Hendricks, et al. | J Natl Cancer Inst | 28 September 2022 | doi.org/10.1093/jnci/djac188 | |
Catch them if you are aware: PTEN postzygotic mosaicism in clinically suspicious patients with PTEN Hamartoma Tumour Syndrome and literature review | Linda A.J. Hendricks, et al. | European Journal of Medical Genetics | 28 May 2022 | doi.org/10.1016/j.ejmg.2022.104533 |
European Journal of Medical Genetics - Special Issue ERN GENTURIS 2021-2022 |
Cancer surveillance guideline for individuals with PTEN Hamartoma Tumour Syndrome | Marc Tischkowitz, et al. | European Journal of Human Genetics | 12 June 2020 | doi.org/10.1038/s41431-020-0651-7 |
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Germline TP53 Testing in Breast Cancers: Why, When and How | D. Gareth Evans, et al. | Cancers (Basel) | 14 December 2020 |
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Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes | Thierry Frebourg, et al. | European Journal of Human Genetics | 26 May 2020 | doi.org/10.1038/s41431-020-0638-4 |
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Clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome | Marianne Geilswijk, et al. | European Journal of Human Genetics | 31 July 2024 |
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Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome | Fiona Lalloo, et al. | European Journal of Human Genetics | 22 August 2023 |
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Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants | Richard Gallon, et al. | npj Precision Oncology | 24 May 2024 | ||
Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence | Emadeldin Hassanin, et al. | BMC Medical Genomics | 5 March 2023 |
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Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency | Richard Gallon, et al. | Gastroenterology | 29 December 2022 | doi.org/10.1053/j.gastro.2022.12.017 |
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Combined loss of CDH1 and downstream regulatory sequences drive early-onset diffuse gastric cancer and increase penetrance of hereditary diffuse gastric cancer | Celina São José, et al. | Gastric Cancer | September 2023 |
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Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes | José Garcia-Pelaez, et al. | Lancet Oncology | 24 November 2022 | doi.org/10.1016/S1470-2045(22)00643-X | |
First estimates of diffuse gastric cancer risks for carriers of CTNNA1 germline pathogenic variants | Marie Coudert, et al. | Journal of Medical Genetics | 29 August 2022 | doi.org/10.1136/jmg-2022-108740 | |
Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes – a collaborative multicentre endeavour within the project Solve-RD | Anna K. Sommer, et al. | European Journal of Medical Genetics | 11 March 2022 | doi.org/10.1016/j.ejmg.2022.104475 |
European Journal of Medical Genetics - Special Issue ERN GENTURIS 2021-2022 |
Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate genes | José Garcia-Pelaez, et al. | European Journal of Medical Genetics | 3 December 2021 | doi.org/10.1016/j.ejmg.2021.104401 |
European Journal of Medical Genetics - Special Issue ERN GENTURIS 2021-2022 |
Cancer predisposition and germline CTNNA1 variants | Silvana Lobo, et al. | European Journal of Medical Genetics | 21 August 2021 | doi.org/10.1016/j.ejmg.2021.104316 |
European Journal of Medical Genetics - Special Issue ERN GENTURIS 2021-2022 |
A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report | Iris B. A. W. te Paske, et al. | European Journal of Human Genetics | 1 June 2021 | doi.org/10.1038/s41431-021-00853-6 |
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von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance | Marie Louise M. Binderup, et al. | European Journal of Medical Genetics | 13 June 2022 |
European Journal of Medical Genetics - Special Issue ERN GENTURIS 2021-2022 |
This section lists publications from our members, if all of the following conditions are met:
Title |
Authors |
Journal |
Publication date |
DOI |
Neurofibromatosis type 1 adult surveillance form for Austria | Vincent Sunder-Plassmann, et al. | Wiener klinische Wochenschrift | 12 September 2024 | doi.org/10.1007/s00508-024-02443-0 |
Current management of familial adenomatous polyposis | Lauricella et al. | Expert Review of Anticancer Therapy | June 2024, ePub 26 May 2024 |