Publications

ERN GENTURIS publications

  • Charlotte Carton, D. Gareth Evans, Ignacio Blanco, Reinhard E. Friedrich, Rosalie E. Ferner, Said Farschtschi, Hector Salvador, Amedeo A. Azizi, Victor Mautner, Claas Röhl, Sirkku Peltonen, Stavros Stivaros, Eric Legius, Rianne Oostenbrink
    ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1
    eClinicalMedicine 56, February 2023, 101818. First published online on 13 January 2023.
    doi.org/10.1016/j.eclinm.2022.101818

     

  • Hildegunn Høberg-Vetti, Ignacio Blanco, Fred H. Menko
    European collaboration on genetic tumour risk syndromes
    European Journal of Medical Genetics 66(2), 104691. Published on 26 December 2022.
    doi.org/10.1016/j.ejmg.2022.104691
    European Journal of Medical Genetics - Special Issue ERN GENTURIS 2021-2022

     

  • Linda A.J. Hendricks, Nicoline Hoogerbrugge, Hanka Venselaar, Stefan Aretz, Isabel Spier, Eric Legius, Hilde Brems, Robin de Putter, Kathleen B.M. Claes, D. Gareth Evans, Emma R. Woodward, Maurizio Genuardi, Fulvia Brugnoletti, Yvette van Ierland, Kim Dijke, Emma Tham, Bianca Tesi, Janneke H.M. Schuurs-Hoeijmakers, Maud Branchaud, Hector Salvador, Arne Jahn, Simon Schnaiter, Violetta Christophidou Anastasiadou, Joan Brunet, Carla Oliveira, Laura Roht, Ana Blatnik, Arvids Irmejs, PTEN Study Group, Arjen R. Mensenkamp, Janet R. Vos
    Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort
    European Journal of Medical Genetics, Volume 65, Issue 12, 104632. Published in December 2022.
    doi.org/10.1016/j.ejmg.2022.104632
    European Journal of Medical Genetics - Special Issue ERN GENTURIS 2021-2022

     

  • José Garcia-Pelaez, Rita Barbosa-Matos, Silvana Lobo, Alexandre Dias, Luzia Garrido, Sérgio Castedo, Sónia Sousa, Hugo Pinheiro, Liliana Sousa, Rita Monteiro, Joaquin J. Maqueda, Susana Fernandes, Fátima Carneiro, Nádia Pinto, Carolina Lemos, lCarla Pinto, Manuel R. Teixeira, Stefan Aretz, Svetlana Bajalica-Lagercrantz, Judith Balmaña, Ana Blatnik, Patrick R. Benusiglio, Maud Blanluet, Vincent Bours, Hilde Brems, Joan Brunet, Daniele Calistri, Gabriel Capellá, Sergio Carrera, Chrystelle Colas, Karin Dahan, Robin de Putter, Camille Desseignés, Elena Domínguez-Garrido, Conceição Egas, D. Gareth Evans, Damien Feret, Eleanor Fewings, Rebecca C. Fitzgerald, Florence Coulet, María Garcia-Barcina, Maurizio Genuardi, Lisa Golmard, Karl Hackmann, Helen Hanson, Elke Holinski-Feder, Robert Hüneburg, Mateja Krajc, Kristina Lagerstedt-Robinson, Conxi Lázaro, Marjolijn J. L. Ligtenberg, Cristina Martínez-Bouzas, Sonia Merino, Geneviève Michils, Srdjan Novaković, Ana Patiño-García, Guglielmina Nadia Ranzani, Evelin Schröck, Inês Silva, Catarina Silveira, José L. Soto, Isabel Spier, Verena Steinke-Lange, Gianluca Tedaldi, María-Isabel Tejada, Emma R. Woodward, Marc Tischkowitz, Nicoline Hoogerbrugge, Carla Oliveira
    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
    Lancet Oncology 24(1): 91-106. Published on 24 November 2022.
    doi.org/10.1016/S1470-2045(22)00643-X

     

  • Yasmin Soares de Lima, Coral Arnau-Collell, Jenifer Muñoz, Cristina Herrera-Pariente, Leticia Moreira, Teresa Ocaña, Marcos Díaz-Gay, Sebastià Franch-Expósito, Miriam Cuatrecasas, Sabela Carballal, Anael Lopez-Novo, Lorena Moreno, Guerau Fernàndez, Aranzazu Díaz de Bustamante, Sophia Peters, Anna K Sommer, Isabel Spier, Iris B A W Te Paske, Yasmijn J van Herwaarden, Antoni Castells, Luis Bujanda, Gabriel Capellà, Verena Steinke-Lange, Khalid Mahmood, JiHoon Eric Joo, Julie Arnold, Susan Parry, Finlay A Macrae, Ingrid M Winship, Christophe Rosty, Joaquin Cubiella, Daniel Rodríguez-Alcalde, Elke Holinski-Feder, Richarda de Voer, Daniel D Buchanan, Stefan Aretz, Clara Ruiz-Ponte, Laura Valle, Francesc Balaguer, Laia Bonjoch, Sergi Castellvi-Bel
    Germline mutations in WNK2 could be associated with serrated polyposis syndrome
    Journal of Medical Genetics: jmedgenet-2022-108684. First published online on 21 October 2022.
    doi.org/10.1136/jmg-2022-108684

     

  • Pål Møller, et al.
    Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium.
    Hereditary Cancer in Clinical Practice 20(1):36. Published on 1 October 2022.
    doi.org/10.1186/s13053-022-00241-1

     

  • Linda A J Hendricks, Nicoline Hoogerbrugge, Arjen R Mensenkamp, Joan Brunet, Roser Lleuger-Pujol, Hildegunn Høberg-Vetti, Marianne Tveit Haavind, Giovanni Innella, Daniela Turchetti, Stefan Aretz, Isabel Spier, Marc Tischkowitz, Arne Jahn, Thera P Links, Maran J W Olderode-Berends, Ana Blatnik, Edward M Leter, D Gareth Evans, Emma R Woodward, Verena Steinke-Lange, Violetta C Anastasiadou, Chrystelle Colas, Marie-Charlotte Villy, Patrick R Benusiglio, Anna Gerasimenko, Valeria Barili, Maud Branchaud, Claude Houdayer, Bianca Tesi, M Omer Yazicioglu, Rachel S van der Post, Janneke H M Schuurs-Hoeijmakers, PTEN Study Group , Janet R Vos
    Cancer risks by sex and variant type in PTEN Hamartoma Tumor Syndrome
    J Natl Cancer Inst 115(1): 93–103. Published on 28 September 2022.
    doi.org/10.1093/jnci/djac188

     

  • Marie Coudert, Youenn Drouet, Hélène Delhomelle, Magali Svrcek, Patrick R Benusiglio, Florence Coulet, Dana Farengo Clark, Bryson W Katona, Liselotte P van Hest, Lizet E van der Kolk, Annemieke Cats, Jolanda M van Dieren, Bita Nehoray, Thomas Slavin, Isabel Spier, Robert Hüneburg, Silvana Lobo, Carla Oliveira, Lise Boussemart, Laure Masson, Jean Chiesa, Mathias Schwartz, Bruno Buecher, Lisa Golmard, Anne-Marie Bouvier, Valérie Bonadona, Dominique Stoppa-lyonnet, Christine Lasset and Chrystelle Colas
    First estimates of diffuse gastric cancer risks for carriers of CTNNA1 germline pathogenic variants
    Journal of Medical Genetics 59:1189-1195. Published 29 August 2022.
    doi.org/10.1136/jmg-2022-108740

     

  • Iris B. A. W. te Paske, Arjen R. Mensenkamp, Kornelia Neveling, ERN-GENTURIS Lynch-like working group, Nicoline Hoogerbrugge, Marjolijn J L Ligtenberg, Richarda M. de Voer
    Non-coding aberrations in mismatch repair genes underlie a substantial part of the missing heritability in Lynch syndrome
    Gastroenterology S0016-5085(22)01022-8. Published on 26 August 2022.
    doi.org/10.1053/j.gastro.2022.08.041

     

  • Marie Louise M. Binderup, Maja Smerdel, Line Borgwadt, Signe Sparre Beck Nielsen, Mia Gebauer Madsen, Hans Ulrik Møller, Jens Folke Kiilgaard, Lennart Friis-Hansen, Vibeke Harbud, Søren Cortnum, Hanne Owen, Steen Gimsing, Henning Anker Friis Juhl, Sune Munthe, Marianne Geilswijk, Åse Krogh Rasmussen, Ulla Møldrup, Ole Graumann, Frede Donskov, Henning Grønbæk, Brian Stausbøl-Grøn, Ove Schaffalitzky de Muckadell, Ulrich Knigge, Gitte Dam, Karin Wadt, Lars Bøgeskov, Per Bagi, Lars Lund, Kirstine Stochholm, Lilian Bomme Ousager, Lone Sunde
    von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance
    European Journal of Medical Genetics 65(8), 104538. Published on 13 June 2022.
    doi.org/10.1016/j.ejmg.2022.104538
    European Journal of Medical Genetics - Special Issue ERN GENTURIS 2021-2022

     

  • Linda A.J.Hendricks, Janneke Schuurs-Hoeijmakers, Isabel Spier, Maaike L.Haadsma, Astrid Eijkelenboom, Kirsten Cremer, Arjen R. Mensenkamp, Stefan Aretz, Janet R.Vos, Nicoline Hoogerbrugge
    Catch them if you are aware: PTEN postzygotic mosaicism in clinically suspicious patients with PTEN Hamartoma Tumour Syndrome and literature review
    European Journal of Medical Genetics 65(7), 104533. Published on 28 May 2022.
    doi.org/10.1016/j.ejmg.2022.104533
    European Journal of Medical Genetics - Special Issue ERN GENTURIS 2021-2022

     

  • D. Gareth Evans, Stefania Mostaccioli, David Pang, Mary Fadzil O Connor, Melpo Pittara, Nicolas Champollion, Pierre Wolkenstein, Nick Thomas, Rosalie E. Ferner, Michel Kalamarides, Matthieu Peyre, Laura Papi, Eric Legius, Juan Luis Becerra, Andrew King, Chris Duff, Stavros Stivaros, Ignacio Blanco
    ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis
    European Journal of Human Genetics 30, 812–817. Published on 1 April 2022.
    doi.org/10.1038/s41431-022-01086-x

     

  • Kristine Pavlovica, Arvids Irmejs, Margit Noukas, Marili Palover, Mart Kals, Neeme Tonisson, Andres Metspalu, Jacek Gronwald, Jan Lubinski, Daiga Murmane, Agnese Kalnina, Peteris Loza, Jelena Maksimenko, Genadijs Trofimovics, Signe Subatniece, Zanda Daneberga, Edvins Miklasevics, Janis Gardovskis
    Spectrum and frequency of CHEK2 variants in breast cancer affected and general population in the Baltic states region, initial results and literature review
    European Journal of Medical Genetics 65(5), 104477. Published on 18 March 2022.
    doi.org/10.1016/j.ejmg.2022.104477
    European Journal of Medical Genetics - Special Issue ERN GENTURIS 2021-2022

     

  • Anna K. Sommer, Iris B.A.W. te Paske, José Garcia-Pelaez, Andreas Laner, Elke Holinski-Feder, Verena Steinke-Lange, Sophia Peters, Laura Valle, Isabel Spier, David Huntsman, Solve-RD-GENTURIS group: Gabriel Capella, Gareth Evans, Andreas Rump, Evelin Schröck, Alexander Hoischen, Nicoline Geverink, Marc Tischkowitz, Leslie Matalonga, Steven Laurie, Christian Gilissen, Wouter Steyaert, German Demidov, Carla Oliveira, Richarda M. de Voer, Nicoline Hoogerbrugge, Stefan Aretz
    Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes – a collaborative multicentre endeavour within the project Solve-RD
    European Journal of Medical Genetics 65(5), 104475. Publsihed on 11 March 2022.
    doi.org/10.1016/j.ejmg.2022.104475
    European Journal of Medical Genetics - Special Issue ERN GENTURIS 2021-2022

     

  • José Garcia-Pelaez, Rita Barbosa-Matos, Celina São José, Sónia Sousa, Irene Gullo, Nicoline Hoogerbrugge, Fátima Carneiro, Carla Oliveira
    Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate genes
    European Journal of Medical Genetics 65(1), 104401. Published on 3 December 2021.
    doi.org/10.1016/j.ejmg.2021.104401
    European Journal of Medical Genetics - Special Issue ERN GENTURIS 2021-2022

     

  • Emanuela Lucci-Cordisco, Simona Amenta, Arianna Panfili, Jesús del Valle, Gabriel Capellá, Marta Pineda, Maurizio Genuardi
    Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels?
    European Journal of Medical Genetics 65(1), 104400. Published on 20 November 2021.
    doi.org/10.1016/j.ejmg.2021.104400
    European Journal of Medical Genetics - Special Issue ERN GENTURIS 2021-2022

     

  • Sirkku Peltonen, Arnaud Jannic, Pierre Wolkenstein
    Treatment of cutaneous neurofibromas with carbon dioxide laser: Technique and patient experience
    European Journal of Medical Genetics 65(1), 104386. Published on 9 November 2021.
    doi.org/10.1016/j.ejmg.2021.104386
    European Journal of Medical Genetics - Special Issue ERN GENTURIS 2021-2022

     

  • Verena Steinke-Lange, Robin de Putter, Elke Holinski-Feder, Kathleen B. M. Claes
    Somatic mosaics in hereditary tumor predisposition syndromes
    European Journal of Medical Genetics 64(12), 104360. Published on 13 October 2021.
    doi.org/10.1016/j.ejmg.2021.104360
    European Journal of Medical Genetics - Special Issue ERN GENTURIS 2021-2022

     

  • David Humberto Marmolejo, Mark Yu Zheng Wong, Svetlana Bajalica-Lagercrantz,
    Marc Tischkowitz, Judith Balmana, extended ERN-GENTURIS Thematic Group 3
    Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe
    European Journal of Medical Genetics 64(12), 104350. Published on 1 October 2021.
    doi.org/10.1016/j.ejmg.2021.104350
    European Journal of Medical Genetics - Special Issue ERN GENTURIS 2021-2022

     

  • Silvana Lobo, Patrick R. Benusiglio, Florence Coulet, Lise Boussemart, Lisa Golmard, Isabel Spier, Robert Hüneburg, Stefan Aretz, Chrystelle Colas, Carla Oliveira
    Cancer predisposition and germline CTNNA1 variants
    European Journal of Medical Genetics 64(10), 104316. Published on 21 August 2021.
    doi.org/10.1016/j.ejmg.2021.104316
    European Journal of Medical Genetics - Special Issue ERN GENTURIS 2021-2022

     

  • Britt A. E. Dhaenens, Rosalie E. Ferner, D. Gareth Evans, Guenter Heimann,Cornelia Potratz, Edwin van de Ketterij, Angela M. Kaindl, Geesje Hissink,Charlotte Carton, Annette Bakker, Marco Nievo, Eric Legius, Rianne Oostenbrink
    Lessons learned from drug trials in neurofibromatosis: A systematic review
    European Journal of Medical Genetics 64(9), 104281. Published on 5 July 2021.
    doi.org/10.1016/j.ejmg.2021.104281
    European Journal of Medical Genetics - Special Issue ERN GENTURIS 2021-2022

     

  • Wojciech Marciniak, Tomáš Matoušek, Susan Domchek, Angelo Paradiso, Margherita Patruno, Arvids Irmejs, Irita Roderte, Róza Derkacz, Piotr Baszuk, Magdalena Kuswik, Cezary Cybulski, Tomasz Huzarski, Jacek Gronwald, Tadeusz Debniak, Michał Falco, Marcin R. Lener, Anna Jakubowska, Katherine Pullella, Joanne Kotsopoulos, Steven Narod, Jan Lubinski
    Blood Arsenic Levels as a Marker of Breast Cancer Risk among BRCA1 Carriers
    Cancers (Basel) 13(13), 3345. Published on 3 July 2021.
    doi.org/10.3390/cancers13133345

     

  • Iris B. A. W. te Paske, José Garcia-Pelaez, Anna K. Sommer, Leslie Matalonga, Teresa Starzynska, Anna Jakubowska, Solve-RD-GENTURIS group, Rachel S. van der Post, Jan Lubinski, Carla Oliveira, Nicoline Hoogerbrugge, Richarda M. de Voer
    A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report
    European Journal of Human Genetics 29, 1354-1358. Published on 1 June 2021.
    doi.org/10.1038/s41431-021-00853-6

     

  • Britt A. E. Dhaenens, Rosalie E. Ferner, Annette Bakker, Marco Nievo, D. Gareth Evans, Pierre Wolkenstein, Cornelia Potratz, Scott R. Plotkin, Guenter Heimann, Eric Legius, Rianne Oostenbrink
    Identifying challenges in neurofibromatosis: a modified Delphi procedure
    European Journal of Human Genetics 29, 1625-1633. Published on 26 April 2021.
    doi.org/10.1038/s41431-021-00892-z

     

  • Birute Tumiene, Holm Graessner, Irene MJ Mathijssen, Alberto M Pereira, Franz Schaefer, Maurizio Scarpa, Jean-Yves Blay, Helene Dollfus, Nicoline Hoogerbrugge
    European Reference Networks: challenges and opportunities
    Journal of Community Genetics 12(2), 217-229. Published on 17 March 2021.
    doi.org/10.1007/s12687-021-00521-8

     

  • Jean-Yves Blay, Pierre Fenaux, Ruth Ladenstein, Nicoline Hoogerbrugge
    Continue rare cancers collaboration with European Reference Networks after Brexit
    Lancet 397(10276), 793. Published on 27 February 2021.
    doi.org/10.1016/S0140-6736(21)00264-6

     

  • Marc Tischkowitz, Beverley Power, Graham Slater
    A no-deal Brexit will be detrimental to people with rare diseases
    Lancet 397(10268), 20. Published on 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.

     

  • Gareth Evans, Emma Woodward, Svetlana Bajalica-Lagercrantz, Carla Oliveira, Thierry Frebourg
    Germline TP53 Testing in Breast Cancers: Why, When and How
    Cancers (Basel) 12(12), 3762. Published on 14 December 2020.
    doi.org/10.3390/cancers12123762

     

  • Marc Tischkowitz, Chrystelle Colas, Sjaak Pouwels, Nicoline Hoogerbrugge, PHTS Guideline Development Group & The European Reference Network GENTURIS
    Cancer surveillance guideline for individuals with PTEN Hamartoma Tumour Syndrome
    European Journal of Human Genetics 28(10), 1387–1393. Published on 12 June 2020.
    doi.org/10.1038/s41431-020-0651-7

     

  • Thierry Frebourg, Svetlana Bajalica Lagercrantz, Carla Oliveira, Rita Magenheim, D. Gareth Evans & The European Reference Network GENTURIS
    Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes
    European Journal of Human Genetics 28(10), 1379–1386. Published on 26 May 2020.
    doi.org/10.1038/s41431-020-0638-4

     

  • Matt Bolz-Johnson, Jelena Meek, Nicoline Hoogerbrugge
    “Patient Journeys”: improving care by patient involvement
    European Journal of Human Genetics 28(2), 141–143. Published on 4 December 2019.
    doi.org/10.1038/s41431-019-0555-6

     

  • Janet R. Vos, Lisette Giepmans, Claas Röhl, Nicoline Geverink and Nicoline Hoogerbrugge on behalf of ERN GENTURIS
    Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes
    Familial Cancer 18(2), 281–284. Published on 9 October 2018.
    doi.org/10.1007/s10689-018-0110-6