Natural History of Rare Tumor Risk Syndromes: A Scoping Review to Inform Cost-Effectiveness Models
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Autori:
Carolina Di Fabrizio, Judite Gonçalves, Zillur R. Shabuz, Andrew Titman, Paula Boaventura, Svetlana Bajalica Lagercrantz, Barbara Peleteiro, Sara Pereira, Liliana Sousa, Stefan Aretz, Paula Soares, Janneke Schuurs Hoeijmakers, Jean Christophe Thery, Hildegunn Hoberg Vetti, Judith Balmaña, Joan Brunet, Carla Oliveira, Céu Mateus, null null
Pubblicato in:
Journal of Health Economics and Outcomes Research, Numero 13, 2026, ISSN 2327-2236
Editore:
The Journal of Health Economics and Outcomes Research
DOI:
10.36469/001C.167564
Optimising rare tumour risk syndromes care: clinical insights and the PREVENTABLE socioeconomic framework
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Autori:
Sara B. Pereira, Liliana Sousa, Ricardo Amorim, Luzia Garrido, Rita Barbosa-Matos, Bárbara Peleteiro, Stefan Aretz, Judith Balmaña, Joan Brunet, Claude Houdayer, Svetlana Bajalica-Lagercrantz, Igor Lopes, Judite Gonçalves, Nuno Teixeira Marcos, Marta M. Marques, Céu Mateus, Laurène Mathey, Imma Prats, Nuno Ribeiro, Janneke H. M. Schuurs-Hoeijmakers, Jean-Christophe Thery, Andrew Titman, Hildegunn H. Vetti, Ana Azevedo, null null, Katja C. J. Verbeek, Núria Dueñas, Adriana Costal, Laura Duran-Lozano, Adrià López-Fernández, Carolina B. Di Fabrizio, Birte Blindheim Lundhaug, Zillur Rahman Shabuz, Nicoline Hoogerbrugge, Martine P. A. van Koolwijk, Rebecca-Evelyn Papp, Amalia Nicole Nanciu, Robert Hüneburg, Katrin van Beekum, Mia Quante, Silvana Lobo, Celina São José, Ana Machado, Maiara Moreto, Ana Maria Rodrigues, Isabel Fernandes, Alexander Sun Zhang, Paula Soares, Paula Boaventura, Rui Sousa, Marbélia Fernandes, António Moreira, Diana Ferreira, Daniel Ferreira, João Fonseca, Ana Maria Pedro, João Vinagre, João Paulo Brás, Gaëlle Bougeard, Edwige Kasper, Stéphanie Bart-Desurmont, Maud Branchaud, Nathalie Parodi, Mariette Renaux-Petel, Margaux Clément Le Choismier, Patricia Faure, Marion Rolain, Thomas Vermeulin, Cécile Guillemet, Carla Oliveira
Pubblicato in:
European Journal of Human Genetics, 2026, ISSN 1018-4813
Editore:
Springer Science and Business Media LLC
DOI:
10.1038/S41431-026-02037-6
Behavioural analysis of referral and uptake of care pathways for rare tumour risk syndromes: A cross-cultural mixed-methods study protocol within the PREVENTABLE project
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Autori:
Ana Machado; Maiara Moreto; Isabel Fernandes; Ana Maria Rodrigues; Bárbara Peleteiro; Joan Brunet; Judith Balmaña; Claude Houdayer; Jean-Christophe Thery; Janneke H.M. Schuurs-Hoeijmakers; Stefan Aretz; Cathrine Bjorvatn; Liliana Sousa; Sara Pereira; Carla Oliveira; Marta M. Marques
Pubblicato in:
Open Research Europe, 2025, ISSN 2732-5121
Editore:
F1000 Research Ltd
DOI:
10.5281/ZENODO.19554868
Hereditary diffuse gastric cancer spectrum associated with germline <i>CTNNA1</i> loss of function revealed by clinical and molecular data from 351 carrier families and over 37 000 non-carrier controls
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Autori:
Silvana Lobo, Alexandre Dias, Ana Maria Pedro, Marta Ferreira, André Pinto-Oliveira, Celina São José, Jennifer Herrera-Mullar, Nádia Pinto, Chrystelle Colas, Robert Hüneburg, Jacob Nattermann, Lise Boussemart, Liselotte P van Hest, Leticia Moreira, Carolyn Horton, Dana Farengo Clark, Sigrid Tinschert, Lisa Golmard, Isabel Spier, Adriá López-Fernández, Daniela Oliveira, Magali SVRCEK, Pierre Bourgoin, Florence Coulet, Hélène Delhomelle, Jeremy Davis, Birthe Zäncker, Conxi Lazaro, Joana Guerra, Maria L Almeida, Sergio Carrera, Ana Patiño, Paul Gundlach, Monika Laszkowska, Vivian E Strong, Manuel R Teixeira, Intan Schrader, Verena Steinke-Lange, Irene Gullo, Sérgio Sousa, Manuela Batista, Stefan Aretz, Judith Balmaña, Melyssa Aronson, Augusto Perazzolo Antoniazzi, Edenir I Palmero, Paul Mansfield, Lizet E van der Kolk, Annemieke Cats, Jolanda M van Dieren, Sergi Castellví-Bel, Bryson Katona, Rachid Karam, Paulo S Pereira, Patrick R Benusiglio, Carla Oliveira
Pubblicato in:
Gut, 2025, ISSN 0017-5749
Editore:
BMJ
DOI:
10.1136/GUTJNL-2024-334601