Genetic tumour risk syndromes are disorders in which inherited genetic mutations strongly predispose individuals to the development of tumours. The lifetime risk of cancer can be as high as 100 %. While there is considerable diversity in the organ systems that may be affected, individuals affected by these conditions share similar challenges: delay in diagnosis, lack of prevention for patients and healthy relatives, and therapeutic mismanagement. At present, only 20-30 % of people with genetic tumour risk syndromes have been diagnosed.

ERN GENTURIS is working to improve identification of these syndromes, minimise variation in clinical outcomes, design and implement guidelines, develop registries and biobanks, support research, and empower patients. The network will educate the public and healthcare professionals, and foster the sharing of best practice across Europe. Access to multidisciplinary care will be improved, with new models and standards for sharing and discussing complex cases. The network is enhancing the quality and interpretation of genetic testing, and increasing patient participation in clinical research programmes.

ERN GENTURIS will cooperate with other ERNs to improve the care of patients with genetic tumour risk syndromes who develop conditions that fall within the expertise of another network.


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TitleAuthorsDateKeywordsIssue name
Identification of novel snoRNA-based biomarkers for clear cell renal cell carcinoma from urine-derived extracellular vesicles.Grützmann K, Salomo K, Krüger A, Lohse-Fischer A, Erdmann K, Seifert M, Baretton G, Aust D, William D, Schröck E, Thomas C, Füssel S2024-05-13Biomarker, Cancer diagnostics, Clear cell renal cell carcinoma, Exosomes, Extracellular vesicles, Kidney cancer, Liquid biopsy, Transcriptional biomarker, Urine, snoRNABiology direct
Exploring evolutionary trajectories in ovarian cancer patients by longitudinal analysis of ctDNA.Kutz O, Drukewitz S, Krüger A, Aust D, William D, Oster S, Schröck E, Baretton G, Link T, Wimberger P, Kuhlmann JD2024-04-05ctDNA, liquid biopsy, ovarian cancer, tumor evolutionClinical chemistry and laboratory medicine
The PlexiQoL, a patient-reported outcome measure on quality of life in neurofibromatosis type 1-associated plexiform neurofibroma: translation, cultural adaptation and validation into the Dutch language for the Netherlands.Dhaenens BAE, van Dijk SA, Taal W, Noordhoek DC, Coffey A, McKenna SP, Oostenbrink R2024-03-18Neurofibromatosis type 1, PRO, Patient-reported outcome measure, Plexiform neurofibroma, QoL, Quality of lifeJournal of patient-reported outcomes
Author Correction: Proteogenomic analysis reveals RNA as a source for tumor-agnostic neoantigen identification.Tretter C, de Andrade Krätzig N, Pecoraro M, Lange S, Seifert P, von Frankenberg C, Untch J, Zuleger G, Wilhelm M, Zolg DP, Dreyer FS, Bräunlein E, Engleitner T, Uhrig S, Boxberg M, Steiger K, Slotta-Huspenina J, Ochsenreither S, von Bubnoff N, Bauer S, Boerries M, Jost PJ, Schenck K, Dresing I, Bassermann F, Friess H, Reim D, Grützmann K, Pfütze K, Klink B, Schröck E, Haller B, Kuster B, Mann M, Weichert W, Fröhling S, Rad R, Hiltensperger M, Krackhardt AM2024-03-15Nature communications
The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2.Hinić S, Cybulski C, Van der Post RS, Vos JR, Schuurs-Hoeijmakers J, Brugnoletti F, Koene S, Vreede L, van Zelst-Stams WAG, Kets CM, Haadsma M, Spruijt L, Wevers MR, Evans DG, Wimmer K, Schnaiter S, Volk AE, Möllring A, de Putter R, Soikkonen L, Kahre T, Tooming M, de Jong MM, Vaz F, Mensenkamp AR, Genuardi M, Lubinski J, Ligtenberg M, Hoogerbrugge N, de Voer RM2024-02-13Breast cancer, CHEK2, Genetic tumor risk syndrome, Multiple primary malignanciesGenetics in medicine : official journal of the American College of Medical Genetics
Recommendations for the collection and annotation of biosamples for analysis of biomarkers in neurofibromatosis and schwannomatosis clinical trials.Sundby RT, Rhodes SD, Komlodi-Pasztor E, Sarnoff H, Grasso V, Upadhyaya M, Kim A, Evans DG, Blakeley JO, Hanemann CO, Bettegowda C2024-02-01Biomarker, cell-free DNA, consensus guidelines, cytokines, liquid biopsy, neurofibromatosis, open science, schwannomatosisClinical trials (London, England)
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.Spier I, Yin X, Richardson M, Pineda M, Laner A, Ritter D, Boyle J, Mur P, Hansen TVO, Shi X, Mahmood K, Plazzer JP, Ognedal E, Nordling M, Farrington SM, Yamamoto G, Baert-Desurmont S, Martins A, Borras E, Tops C, Webb E, Beshay V, Genuardi M, Pesaran T, Capellá G, Tavtigian SV, Latchford A, Frayling IM, Plon SE, Greenblatt M, Macrae FA, Aretz S2024-02-01ACMG/AMP variant classification guidelines, Adenomatous polyposis coli (APC), ClinGen, Familial adenomatous polyposis (FAP), InSiGHTGenetics in medicine : official journal of the American College of Medical Genetics
High amount of fertility reducing tumors and procedures, but no evidence for premature ovarian failure in female Lynch syndrome patients.Biermann S, Knapp M, Wieacker P, Aretz S, Steinke-Lange V2024-01-27Cancer predisposition, Hereditary CRC, Lynch syndrome, Menopause, Mismatch-repair genesFamilial cancer
Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome.Dueñas N, Klinkhammer H, Bonifaci N, Spier I, Mayr A, Hassanin E, Diez-Villanueva A, Moreno V, Pineda M, Maj C, Capellà G, Aretz S, Brunet J2023-11-01Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Neoplasms, Early Diagnosis, Genetic Association Studies, Genetic CounselingJournal of medical genetics
Signaling-induced systematic repression of miRNAs uncovers cancer vulnerabilities and targeted therapy sensitivity.Wurm AA, Brilloff S, Kolovich S, Schäfer S, Rahimian E, Kufrin V, Bill M, Carrero ZI, Drukewitz S, Krüger A, Hüther M, Uhrig S, Oster S, Westphal D, Meier F, Pfütze K, Hübschmann D, Horak P, Kreutzfeldt S, Richter D, Schröck E, Baretton G, Heining C, Möhrmann L, Fröhling S, Ball CR, Glimm H2023-10-17cancer driver, drug response, miRNA signatures, organoids, precision oncology, spheroids, target predictionCell reports. Medicine
Proteogenomic analysis reveals RNA as a source for tumor-agnostic neoantigen identification.Tretter C, de Andrade Krätzig N, Pecoraro M, Lange S, Seifert P, von Frankenberg C, Untch J, Zuleger G, Wilhelm M, Zolg DP, Dreyer FS, Bräunlein E, Engleitner T, Uhrig S, Boxberg M, Steiger K, Slotta-Huspenina J, Ochsenreither S, von Bubnoff N, Bauer S, Boerries M, Jost PJ, Schenck K, Dresing I, Bassermann F, Friess H, Reim D, Grützmann K, Pfütze K, Klink B, Schröck E, Haller B, Kuster B, Mann M, Weichert W, Fröhling S, Rad R, Hiltensperger M, Krackhardt AM2023-08-02Nature communications
Optimizing expert and patient input in pediatric trial design: Lessons learned and recommendations from a collaboration between conect4children and European Patient-CEntric ClinicAl TRial PLatforms.Dhaenens BAE, Mahler F, Batchelor H, Dicks P, Gaillard S, Nafria B, Kopp-Schneider A, Ribeiro MA, Schwab M, Sparber-Sauer M, Leubner J, de Wildt SN, Oostenbrink R2023-08-01Clinical and translational science
Evidence that platelets from transfusion-dependent β-thalassemia patients induce T cell activation.Solomou EE, Delaporta P, Mantzou A, Tzannoudaki M, Diamantopoulos P, Salamaliki C, Kontandreopoulou CN, Vyniou NA, Perganti F, Papassotiriou I, Kattamis A2023-08-01Platelets, T cells, ThalassemiaClinical immunology (Orlando, Fla.)
A clinical screening tool to detect genetic cancer predisposition in pediatric oncology shows high sensitivity but can miss a substantial percentage of affected children.Friedrich UA, Bienias M, Zinke C, Prazenicova M, Lohse J, Jahn A, Menzel M, Langanke J, Walter C, Wagener R, Brozou T, Varghese J, Dugas M, Erlacher M, Schröck E, Suttorp M, Borkhardt A, Hauer J, Auer F2023-08-01Clinical checklists, Genetic testing, Germline cancer predisposition, Pediatric cancer, Trio sequencingGenetics in medicine : official journal of the American College of Medical Genetics
Health-related quality of life of children with neurofibromatosis type 1: Analysis of proxy-rated PedsQL and CHQ questionnaires.Dhaenens BAE, Rietman A, Husson O, Oostenbrink R2023-07-01CHQ, Children, Health-related quality of life, Neurofibromatosis type 1, PedsQL, Quality of lifeEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Targeted therapy of advanced parathyroid carcinoma guided by genomic and transcriptomic profiling.Teleanu MV, Fuss CT, Paramasivam N, Pirmann S, Mock A, Terkamp C, Kircher S, Landwehr LS, Lenschow C, Schlegel N, Stenzinger A, Jahn A, Fassnacht M, Glimm H, Hübschmann D, Fröhling S, Kroiss M2023-07-01RNA sequencing, immune checkpoint inhibition, mutational signature, tumour mutational burden, tyrosine kinase inhibition, whole-genome sequencingMolecular oncology
A Novel Variant in the TP53 Gene Causing Li-Fraumeni Syndrome.Papadimitriou DT, Stratakis CA, Kattamis A, Glentis S, Dimitrakakis C, Spyridis GP, Christopoulos P, Mastorakos G, Vlahos NF, Iacovidou N2023-06-30Li–Fraumeni syndrome, TP53 gene, adrenocortical tumor, breast cancer, cervical cancer, osteosarcomaChildren (Basel, Switzerland)
Wnt genes in colonic polyposis predisposition.Quintana I, Terradas M, Mur P, Te Paske IBAW, Peters S, Spier I, Steinke-Lange V, Maestro C, Torrents D, Puiggròs M, Royo R, Tonda R, Parra G, Piscia D, Beltrán S, Navarro M, Piñol V, Brunet J, Gonzalez-Abuin N, Aiza G, Sommer A, van Herwaarden Y, Astuti G, Holinski-Feder E, Hoogerbrugge N, de Voer RM, Aretz S, Capellá G, Valle L2023-05-01Genes & diseases
Ischemic stroke in a pediatric patient with very rare coexistence of sickle-cell/β-thalassemia and neurofibromatosis type 1.Roka K, Solomou E, Glentis S, Gavra M, Kokkinou E, Rigatou E, Pons R, Kattamis A2023-04-14Pediatric blood & cancer
The PTEN hamartoma tumor syndrome: how oral clinicians may save lives.Fardal Ø, Nevland K, Johannessen AC, Vetti HH2023-03-01Fissured tongue, PTEN hamartoma tumor syndrome, gingival overgrowth, macrocephaly, periodontal diseases, rare diseaseClinical advances in periodontics
Telomere biology: from disorders to hematological diseases.Roka K, Solomou EE, Kattamis A2023-01-01adult, hematological malignancies, pediatric, telomere biology disorders, telomeresFrontiers in oncology
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.Garcia-Pelaez J, Barbosa-Matos R, Lobo S, Dias A, Garrido L, Castedo S, Sousa S, Pinheiro H, Sousa L, Monteiro R, Maqueda JJ, Fernandes S, Carneiro F, Pinto N, Lemos C, Pinto C, Teixeira MR, Aretz S, Bajalica-Lagercrantz S, Balmaña J, Blatnik A, Benusiglio PR, Blanluet M, Bours V, Brems H, Brunet J, Calistri D, Capellá G, Carrera S, Colas C, Dahan K, de Putter R, Desseignés C, Domínguez-Garrido E, Egas C, Evans DG, Feret D, Fewings E, Fitzgerald RC, Coulet F, Garcia-Barcina M, Genuardi M, Golmard L, Hackmann K, Hanson H, Holinski-Feder E, Hüneburg R, Krajc M, Lagerstedt-Robinson K, Lázaro C, Ligtenberg MJL, Martínez-Bouzas C, Merino S, Michils G, Novaković S, Patiño-García A, Ranzani GN, Schröck E, Silva I, Silveira C, Soto JL, Spier I, Steinke-Lange V, Tedaldi G, Tejada MI, Woodward ER, Tischkowitz M, Hoogerbrugge N, Oliveira C2023-01-01The Lancet. Oncology
Comprehensive cancer predisposition testing within the prospective MASTER trial identifies hereditary cancer patients and supports treatment decisions for rare cancers.Jahn A, Rump A, Widmann TJ, Heining C, Horak P, Hutter B, Paramasivam N, Uhrig S, Gieldon L, Drukewitz S, Kübler A, Bermudez M, Hackmann K, Porrmann J, Wagner J, Arlt M, Franke M, Fischer J, Kowalzyk Z, William D, Weth V, Oster S, Fröhlich M, Hüllein J, Valle González C, Kreutzfeldt S, Mock A, Heilig CE, Lipka DB, Möhrmann L, Hanf D, Oleś M, Teleanu V, Allgäuer M, Ruhnke L, Kutz O, Knurr A, Laßmann A, Endris V, Neumann O, Penzel R, Beck K, Richter D, Winter U, Wolf S, Pfütze K, Geörg C, Meißburger B, Buchhalter I, Augustin M, Aulitzky WE, Hohenberger P, Kroiss M, Schirmacher P, Schlenk RF, Keilholz U, Klauschen F, Folprecht G, Bauer S, Siveke JT, Brandts CH, Kindler T, Boerries M, Illert AL, von Bubnoff N, Jost PJ, Metzeler KH, Bitzer M, Schulze-Osthoff K, von Kalle C, Brors B, Stenzinger A, Weichert W, Hübschmann D, Fröhling S, Glimm H, Schröck E, Klink B2022-11-01biomarker, hereditary cancer, precision medicine, prevention, rare cancer, targeted therapyAnnals of oncology : official journal of the European Society for Medical Oncology
Sensitization of Patient-Derived Colorectal Cancer Organoids to Photon and Proton Radiation by Targeting DNA Damage Response Mechanisms.Pape K, Lößner AJ, William D, Czempiel T, Beyreuther E, Klimova A, Lehmann C, Schmäche T, Merker SR, Naumann M, Ada AM, Baenke F, Seidlitz T, Bütof R, Dietrich A, Krause M, Weitz J, Klink B, von Neubeck C, Stange DE2022-10-113D cell culture, ATM, DNA damage response, chemoradiotherapy, colorectal cancer, patient-derived organoid, proton radiation, translational radio-oncologyCancers
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.Plotkin SR, Messiaen L, Legius E, Pancza P, Avery RA, Blakeley JO, Babovic-Vuksanovic D, Ferner R, Fisher MJ, Friedman JM, Giovannini M, Gutmann DH, Hanemann CO, Kalamarides M, Kehrer-Sawatzki H, Korf BR, Mautner VF, MacCollin M, Papi L, Rauen KA, Riccardi V, Schorry E, Smith MJ, Stemmer-Rachamimov A, Stevenson DA, Ullrich NJ, Viskochil D, Wimmer K, Yohay K, Huson SM, Wolkenstein P, Evans DG2022-09-01NF2, Neurofibromatosis, SMARCB1, Schwannomatosis, lztr1Genetics in medicine : official journal of the American College of Medical Genetics
The miR-183/96/182 cluster is upregulated in glioblastoma carrying EGFR amplification.Schneider B, William D, Lamp N, Zimpfer A, Henker C, Classen CF, Erbersdobler A2022-09-01EGFR amplification, FOXO1 expression, Glioblastoma, miR-183/96/182 cluster, microRNA deregulationMolecular and cellular biochemistry
Combined Systemic Drug Treatment with Proton Therapy: Investigations on Patient-Derived Organoids.Naumann M, Czempiel T, Lößner AJ, Pape K, Beyreuther E, Löck S, Drukewitz S, Hennig A, von Neubeck C, Klink B, Krause M, William D, Stange DE, Bütof R, Dietrich A2022-08-033D cell culture, PDAC, pancreatic cancer, patient-derived organoid, proton irradiation, radiochemotherapy, translational radiooncologyCancers
The yield and effectiveness of breast cancer surveillance in women with PTEN Hamartoma Tumor Syndrome.Hoxhaj A, Drissen MMCM, Vos JR, Bult P, Mann RM, Hoogerbrugge N2022-08-01PTEN Hamartoma Tumor Syndrome, PTEN gene variants, breast cancer, breast cancer early diagnosis, breast cancer surveillance in high‐risk womenCancer
Validation and clinical application of transactivation assays for RUNX1 variant classification.Decker M, Agarwal A, Benneche A, Churpek J, Duployez N, Duvall A, Ernst MPT, Förster A, Høberg-Vetti H, Hofmann I, Nash M, Raaijmakers MHGP, Tvedt THA, Vlachos A, Schlegelberger B, Illig T, Ripperger T2022-06-14Blood advances
Different Effects of RNAi-Mediated Downregulation or Chemical Inhibition of NAMPT in an Isogenic IDH Mutant and Wild-Type Glioma Cell Model.Clausing M, William D, Preussler M, Biedermann J, Grützmann K, Richter S, Buchholz F, Temme A, Schröck E, Klink B2022-05-21IDH1 mutation, NAD+ synthesis, glioma, nicotinamide phosphoribosyltransferase, redox householdInternational journal of molecular sciences
Targeted Quantification of Carbon Metabolites Identifies Metabolic Progression Markers and an Undiagnosed Case of SDH-Deficient Clear Cell Renal Cell Carcinoma in a German Cohort.William D, Erdmann K, Ottemöller J, Mangelis A, Conrad C, Peitzsch M, Schröck E, Eisenhofer G, Zacharis A, Füssel S, Aust D, Klink B, Richter S2021-11-09Krebs cycle, metabolic profiling, renal cell carcinoma, subtypes, succinate dehydrogenase mutations, survival analysisMetabolites
Lessons learned from drug trials in neurofibromatosis: A systematic review.Dhaenens BAE, Ferner RE, Evans DG, Heimann G, Potratz C, van de Ketterij E, Kaindl AM, Hissink G, Carton C, Bakker A, Nievo M, Legius E, Oostenbrink R2021-09-01Neurofibromatosis, Neurofibromatosis type 1, Neurofibromatosis type 2, Schwannomatosis, Systematic reviewEuropean journal of medical genetics
Ultrasound guided needle biopsy of axilla to evaluate nodal metastasis after preoperative systemic therapy in cohort of 106 breast cancers enriched with BRCA1/2 pathogenic variant carriers.Līcīte B, Irmejs A, Maksimenko J, Loža P, Trofimovičs G, Miklaševičs E, Nazarovs J, Romanovska M, Deičmane J, Irmejs R, Purkalne G, Gardovskis J2021-07-07Breast cancer neoadjuvant axilla cytology BRCA1/2Hereditary cancer in clinical practice
European Reference Networks: challenges and opportunities.Tumiene B, Graessner H, Mathijssen IM, Pereira AM, Schaefer F, Scarpa M, Blay JY, Dollfus H, Hoogerbrugge N2021-04-01Journal of community genetics
Challenges in Treating Genodermatoses: New Therapies at the Horizon.Morren MA, Legius E, Giuliano F, Hadj-Rabia S, Hohl D, Bodemer C2021-01-01cell therapy, genetic engeneering, genodermatoses, personalised medicine, reoriented drugs, unmet medical needsFrontiers in pharmacology
Response to Cabozantinib Following Acquired Entrectinib Resistance in a Patient With ETV6-NTRK3 Fusion-Positive Carcinoma Harboring the NTRK3 G623R Solvent-Front Mutation.Hanf D, Heining C, Laaber K, Nebelung H, Uhrig S, Hutter B, Jahn A, Richter D, Aust D, Herbst F, Fröhling S, Glimm H, Folprecht G2021-01-01JCO precision oncology
Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical NF1 Microdeletions.Büki G, Zsigmond A, Czakó M, Szalai R, Antal G, Farkas V, Fekete G, Nagy D, Széll M, Tihanyi M, Melegh B, Hadzsiev K, Bene J2021-01-0117q11.2 deletion syndrome, NF1 gene, array-CGH, atypical NF1 microdeletion, copy number variation, multiplex ligation-probe dependent amplification, type-1 NF1 microdeletion, type-2 NF1 microdeletionFrontiers in genetics
Molecular Characterization of Astrocytoma Progression Towards Secondary Glioblastomas Utilizing Patient-Matched Tumor Pairs.Seifert M, Schackert G, Temme A, Schröck E, Deutsch A, Klink B2020-06-26astrocytomas, cancer genomics, patient-matched astrocytoma pairs, secondary glioblastoma, stage-wise astrocytoma developmentCancers
The landscape of chromothripsis across adult cancer types.Voronina N, Wong JKL, Hübschmann D, Hlevnjak M, Uhrig S, Heilig CE, Horak P, Kreutzfeldt S, Mock A, Stenzinger A, Hutter B, Fröhlich M, Brors B, Jahn A, Klink B, Gieldon L, Sieverling L, Feuerbach L, Chudasama P, Beck K, Kroiss M, Heining C, Möhrmann L, Fischer A, Schröck E, Glimm H, Zapatka M, Lichter P, Fröhling S, Ernst A2020-05-08Nature communications
Metastatic adult pancreatoblastoma: Multimodal treatment and molecular characterization of a very rare disease.Berger AK, Mughal SS, Allgäuer M, Springfeld C, Hackert T, Weber TF, Naumann P, Hutter B, Horak P, Jahn A, Schröck E, Haag GM, Apostolidis L, Jäger D, Stenzinger A, Fröhling S, Glimm H, Heining C2020-04-01Chemotherapy, Metastases, Molecular analysis, PancreatoblastomaPancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]
Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes.Vos JR, Giepmans L, Röhl C, Geverink N, Hoogerbrugge N2019-04-01Cross border health care, European Reference Network, Genetic, Hereditary cancer, Rare diseases, SyndromeFamilial cancer
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Last update: May 18th, 2024 on 01:30