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). ERN GENTURIS is funded by the European Union.”

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).”

Monthly journal round-up

The CGG/ERN GENTURIS/ICARE monthly journal round-ups are available here.

The ERN GENTURIS publications listed below are subdivided into the following categories:

General

Title	Authors	Journal	Publication date	DOI	Remarks
The European Reference Network on Genetic Tumour Risk Syndromes(ERN GENTURIS): benefits for patients, families, and health careproviders	Manon Engels et al.	Familial Cancer	30 March 2025	doi.org/10.1007/s10689-025-00457-9
Pregnancy-related issues in rare and low-prevalence diseases: results of ERN transversal working group on pregnancy and family planning survey	Dina Zucchi, et al.	Orphanet Journal of Rare Diseases	10 March 2025	doi.org/10.1186/s13023-024-03435-z
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses	Steven Laurie, et al.	Nature Medicine	17 January 2025	doi.org/10.1038/s41591-024-03420-w
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
Solve-RD consortium. An interconnected data infrastructure to support large-scale rare disease research	Lennart F. Johansson, et al.	Gigascience	2 January 2024	doi.org/10.1093/gigascience/giae058
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
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases	Birte Zurek, et al.	European Journal of Human Genetics	1 June 2021	doi.org/10.1038/s41431-021-00859-0
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

Title	Authors	Journal	Publication date	DOI	Remarks
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	DOI	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
Lamotrigine for cognitive deficits associated with neurofibromatosis type 1: A phase II randomized placebo-controlled trial	Myrthe J. Ottenhoff, et al.	Developmental Medicine & Child Neurology	28 September 2024	doi.org/10.1111/dmcn.16094
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

Title	Authors	Journal	Publication date	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	doi.org/10.1016/j.ejmg.2022.104475	European Journal of Medical Genetics - Special Issue ERN GENTURIS 2021-2022

Lynch syndrome (LS)

Title	Authors	Journal	Publication date	DOI	Remarks
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	Publication date	DOI	Remarks
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS	Xiaoyu Yin, et al.	American Journal of Human Genetics	1 October 2024	doi.org/10.1016/j.ajhg.2024.09.002
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	DOI	Remarks
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	Publication date	DOI	Remarks
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

Title	Authors	Journal	Publication date	DOI	Remarks
Candidate Gene Discovery in Hereditary Colorectal Cancer and Polyposis Syndromes–Considerations for Future Studies	Iris B. A. W. te Paske, et al.	International Journal of Molecular Sciences	19 November 2020	doi.org/10.3390/ijms21228757

PTEN hamartoma tumour syndrome (PHTS)

Title	Authors	Journal	Publication date	DOI	Remarks
Non-serous ovarian cancer in PTEN Hamartoma Tumor Syndrome: additional evidence for increased risk	Ane J. Schei-Andersen, et al.	Familial Cancer	18 March 2025	doi.org/10.1007/s10689-025-00453-z
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	doi.org/10.1002/ijc.35049
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	Publication date	DOI	Remarks
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

Birt-Hogg-Dubé syndrome (BHD syndrome)

Title	Authors	Journal	Publication date	DOI	Remarks
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	doi.org/10.1038/s41431-024-01671-2

Constitutional Mismatch Repair Deficiency (CMMRD)

Title	Authors	Journal	Publication date	DOI	Remarks
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	doi.org/10.1038/s41698-024-00603-z
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	Publication date	DOI	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
The CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing	Rita Barbosa-Matos, et al.	Cancers	4 September 2021	doi.org/10.3390/cancers13174464
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

Hereditary Leiomyomatosis and Renal Cell Cancer

Title	Authors	Journal	Publication date	DOI	Remarks
The impact of the new WHO Classification of renal cell carcinoma on the diagnosis of hereditary leiomyomatosis and renal cell carcinoma	Jan Degenhardt, et al.	Nephrology Dialysis Transplantation	20 February 2025	doi.org/10.1093/ndt/gfaf032

von Hippel-Lindau disease

Title	Authors	Journal	Publication date	DOI	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

BAP1 Tumour Predisposition Syndrome

Title	Authors	Journal	Publication date	DOI	Remarks
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

Other publications from our members

This section lists publications from our members, if all of the following conditions are met:

The publication is about a genturis in our network
The first author or last author belongs to an institute that is an ERN GENTURIS HCP (Full Member, Affiliated Partner or Supporting Partner)
ERN GENTURIS is acknowledged or described in the publication

Title	Authors	Journal	Publication date	DOI
Deep Phenotyping of Pathology-Confirmed Benign Lesions in PTEN Hamartoma Tumor Syndrome Patients	Ane J. Schei-Andersen, et al.	Clinical Genetics	28 April 2025	doi.org/10.1111/cge.14759
Proof of Concept for Genome Profiling of the Neurofibroma/Sarcoma Sequence in Neurofibromatosis Type 1.	Ilenia Rita Cannizzaro, et al.	International Journal of Molecular Sciences	9 October 2024	doi.org/10.3390/ijms251910822
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
Phenotypic Expansion of Autosomal Dominant LZTR1-Related Disorders with Special Emphasis on Adult-Onset Features.	Vera Uliana, et al.	Genes (Basel)	13 July 2024	doi.org/10.3390/genes15070916
Current management of familial adenomatous polyposis	Lauricella et al.	Expert Review of Anticancer Therapy	June 2024, ePub 26 May 2024	doi.org/10.1080/14737140.2024.2344649
Genetic Basis of Breast and Ovarian Cancer: Approaches and Lessons Learnt from Three Decades of Inherited Predisposition Testing.	Valeria Barili, et al.	Genes (Basel)	8 February 2024	doi.org/10.3390/genes15020219
Gastric Polyps in Familial Adenomatous Polyposis Portuguese Patients: The First Western Cohort with Asian Features	Diana Baptista, et al.	Pathobiology	18 October 2023	doi.org/10.1159/000534571