Publications

How to cite ERN GENTURIS in your 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:

  • "This work is generated within the European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS). ERN GENTURIS is funded by the European Union.”
  • “This work is supported by the European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS). ERN GENTURIS is funded by the European Union.”
  • “This work is supported (not financially) by the European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS).”

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:

  • “[author names] are members of the European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS).”

General

Title

Authors

Journal

Publication date

DOI

Remarks

European collaboration on genetic tumour risk syndromes

Hildegunn Høberg-Vetti, et al.

European Journal of Medical Genetics

26 December 2022

doi.org/10.1016/j.ejmg.2022.104691

European Journal of Medical Genetics - Special Issue ERN GENTURIS 2021-2022

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

doi.org/10.1016/j.ejmg.2021.104400

European Journal of Medical Genetics - Special Issue ERN GENTURIS 2021-2022

Somatic mosaics in hereditary tumor predisposition syndromes

Verena Steinke-Lange, et al.

European Journal of Medical Genetics

13 October 2021

doi.org/10.1016/j.ejmg.2021.104360

European Journal of Medical Genetics - Special Issue ERN GENTURIS 2021-2022

European Reference Networks: challenges and opportunities

Birute Tumiene, et al.

Journal of Community Genetics

17 March 2021

doi.org/10.1007/s12687-021-00521-8

 

Continue rare cancers collaboration with European Reference Networks after Brexit

Jean-Yves Blay, et al.

Lancet

27 February 2021

doi.org/10.1016/S0140-6736(21)00264-6

 

A no-deal Brexit will be detrimental to people with rare diseases

Marc Tischkowitz, et al.

Lancet

2 January 2021

doi.org/10.1016/S0140-6736(20)32631-3

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.

“Patient Journeys”: improving care by patient involvement

Matt Bolz-Johnson, et al.

European Journal of Human Genetics

4 December 2019

doi.org/10.1038/s41431-019-0555-6

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

doi.org/10.1007/s10689-018-0110-6

Thematic Group 1: Schwannomatosis and neurofibromatosis

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Authors

Journal

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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

doi.org/10.1016/j.ejmg.2021.104281

European Journal of Medical Genetics - Special Issue ERN GENTURIS 2021-2022

Identifying challenges in neurofibromatosis: a modified Delphi procedure Britt A. E. Dhaenens, et al. European Journal of Human Genetics 26 April 2021

doi.org/10.1038/s41431-021-00892-z

Non-NF2-related schwannomatosis

Title

Authors

Journal

Publication date

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Remarks

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

doi.org/10.1038/s41431-022-01086-x

 

Neurofibromatosis type 1 (NF1)

Title

Authors

Journal

Publication date

DOI

Remarks

ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1 Charlotte Carton, et al. eClinicalMedicine 13 January 2023

doi.org/10.1016/j.eclinm.2022.101818

 

Treatment of cutaneous neurofibromas with carbon dioxide laser: Technique and patient experience Sirkku Peltonen, et al. European Journal of Medical Genetics 9 November 2021

doi.org/10.1016/j.ejmg.2021.104386

European Journal of Medical Genetics - Special Issue ERN GENTURIS 2021-2022

Thematic Group 2: Lynch syndrome and polyposis

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Authors

Journal

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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

Lynch syndrome (LS)

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Authors

Journal

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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

doi.org/10.1038/s41598-023-44120-8

 

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

Adenomatous polyposis syndromes

Title

Authors

Journal

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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

doi.org/10.1093/bjs/znae070

 
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

doi.org/10.1016/j.gim.2023.100992

 

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  

Hamartomatous and other polyposis syndromes

Title

Authors

Journal

Publication date

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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

doi.org/10.1136/jmg-2022-108684

 

Thematic Group 3: Hereditary breast and ovarian cancer

Title

Authors

Journal

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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

doi.org/10.1016/j.gim.2024.101101

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

doi.org/10.1016/j.ejmg.2022.104477

European Journal of Medical Genetics - Special Issue ERN GENTURIS 2021-2022

Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe David Humberto Marmolejo, et al. European Journal of Medical Genetics 1 October 2021

doi.org/10.1016/j.ejmg.2021.104350

European Journal of Medical Genetics - Special Issue ERN GENTURIS 2021-2022

Blood Arsenic Levels as a Marker of Breast Cancer Risk among BRCA1 Carriers Wojciech Marciniak, et al. Cancers (Basel) 3 July 2021

doi.org/10.3390/cancers13133345

Thematic Group 4: Other rare – predominantly malignant- genturis

PTEN hamartoma tumour syndrome (PHTS)

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Authors

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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

doi.org/10.1016/j.ejmg.2022.104632

European Journal of Medical Genetics - Special Issue ERN GENTURIS 2021-2022

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

Heritable TP53-related cancer syndrome/Li Fraumeni syndrome

Title

Authors

Journal

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Germline TP53 Testing in Breast Cancers: Why, When and How D. Gareth Evans, et al. Cancers (Basel) 14 December 2020

doi.org/10.3390/cancers12123762

 

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

Familial malignant melanoma (FMM)

Title

Authors

Journal

Publication date

DOI

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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

doi.org/10.1038%2Fs41431-023-01448-z

 

Constitutional Mismatch Repair Deficiency (CMMRD)

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Authors

Journal

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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

 

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

Diffuse Gastric and Lobular Breast Cancer Syndrome (DGLBC)

Title

Authors

Journal

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Remarks

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

doi.org/10.1007/s10120-023-01395-0

 

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

von Hippel-Lindau disease

Title

Authors

Journal

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Remarks

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

European Journal of Medical Genetics - Special Issue ERN GENTURIS 2021-2022