Accès ouvert déclaré
2025
article
Cross-ancestral GWAS identifies 29 variants across head and neck cancer subsites
Elmira Ebrahimi, Apiwat Sangphukieo, Hanla A. Park, Valérie Gaborieau, Aida Ferreiro-Iglesias, Brenda Diergaarde, Wolfgang Ahrens, Laia Alemany, Lidia MRB Arantes, Jaroslav Betka, Scott V. Bratman, Cristina Canova, Michael Conlon, David I. Conway, Mauricio Cuello, María Paula Curado, Ana Carolina de Carvalho, Jose Carlos de Oliviera, Mark Gormley, Maryam Hadji, Sarah Hargreaves, Claire M. Healy, Ivana Holcátová, Rayjean J. Hung, Παγώνα Λάγιου, Areti Lagiou, Geoffrey Liu, Gary J. Macfarlane, Andrew F. Olshan, Sandra Pérdomo, Luís Pinto, Jerry Polesel, Miranda Pring, Hamideh Rashidian, Ricardo Ribeiro Gama, Lorenzo Richiardi, Max Robinson, Paula A. Rodríguez‐Urrego, Stacey A. Santi, Deborah Saunders, Sheila Coelho Soares‐Lima, Nicholas J. Timpson, Marta Vilensky, Sandra Ventorin von Zeidler, Tim Waterboer, Kazem Zendehdel, Ariana Znaor, Paul Brennan, Luís Fernando Batista Pinto, Antonio Agudo, S. Alibhai, Shaymaa AlWaheidi, Namrah Anwar, Paola Engelmann Arantes, Yubelly Avello, Lucas Avondet, A.M. Baldión-Elorza, Camila Batista Daniel, Bianca Beraldi, Barbara Berenstein, Patricia Bernal, Lourine Bouvard, Jesús Brenes, Nicole Brenner, Carol Brentisci, Catalina Burtica, María Lavín Cabanas, Erick Cantor, Raiany Santos Carvalho, André Lopes Carvalho, Luigi Chiusa, Priscilia Chopard, Qurratulain Chundriger, Omar Clavero, Isabela Costa, Grant Creaney, Cecilia Cuffini, Tauana Christina Dias, Evandro Duccini Souza, Laís Corsino Durant, Alberto Escallón, Gisele Aparecida Fernandes, Béatrice Fervers, Valentina Fiano, Frederico Firme Figueira, Regina Furbino Villefort, Manuela Gangemi, Paolo Garzino‐Demo, Mahin Gholipour, R. Giglio, Mariél de Aquino Goulart, Jéssica Graça Sant’Anna, Marek Grega, Anna Clara Gregório Có, Arnau Guasch, José Antonio Hakim, D. Neil Hayes, Marco Homero de Sá Santos, Katrina Hurley, Magalí Insfran, Giuseppe Carlo Iorio, Moghira Iqbaluddin Siddiqui, Jannik Johannsen, Martin Kaňa, Jens Peter Klußmann, Evelio Legal, Jeferson Lenzi, Fernando Luiz Dias, Iván Gónzalez, Willene Machado Zorzaneli, Ricardo Rocha, M. Mañós, Priscila Marinho de Abreu, Maryam Marzban, James McCaul, Alex D. McMahon, Elismauro Francisco Mendonça, Laura Mendoza, Birgitta E. Michels, Matinair Siqueira Mineiro, Chiara Moccia, Pamela Mongelós, Ana Lorena Montealegre-Páez, Álvaro Muñoz, Andy Ness, Aline Borburema Neves, Marco Antônio Oliva, José Carlos de Oliveira, Hernán Ortiz, José Ortíz, Marta Osorio, Vanessa Ospina, Oliviero Ostellino, Mauricio Palau, Claire Paterson, Sonia Paytubi Casabona, Giancarlo Pecorari, David M. Pereira, Olivia Pérol, Shahid Pervez, Alicia Pomata, Maja Popović, A. Poveda, Caroline Costa Prado, Guglielmo Ramieri, Rui Manuel Reis, Hélène Renard, Umberto Ricardi, Giuseppe Riva, Frederic Rodilla, Ingrid Rodrı́guez, María Inés Rodriguez, Alastair Ross, Pierre-Eric Roux, Tazeen Saeed Ali, Pierre Saintigny, Juan José Santivañez, Cristóvam Scapultampo-Neto, Javier Segovia, Agenor Sena, Ricardo Serrano, Shachi Jenny Sharma, Oliver Siefer, Bruna Pereira Sorroche, Chrystian C Sosa, Juliana S Oliveira, Antonella Stura, Steven J. Thomas, Oscar Tórres, Sara Tous, Gonzálo Ucross, Adriana Valenzuela, José Roberto Vasconcelos de Podestá, Alex Whitmarsh, Sylvia Wright, James McKay, Shama Virani, Tom Dudding
6Citations signalées, ce qui n’est pas une note de qualité
73Institutions déclarées
20Pays d’affiliation déclarés
Rattachement africain : fr, ir, th, us, de, es, br, cz, ca, it, gb, uy, fi, ie, gr, co, ar, pk, py, au.
Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
Head and neck squamous cell carcinoma (HNSCC) includes diverse cancers arising in the oral cavity, oropharynx, and larynx, with the main risk factors being environmental exposures such as tobacco, alcohol, and human papillomavirus (HPV) infection. The genetic factors contributing to susceptibility across different populations and tumour subsites remain incompletely understood. Here we show, through a genome-wide association and fine mapping study of over 19,000 HNSCC cases and 38,000 controls from multiple ancestries, 18 genetic risk variants and 11 signals from fine mapping of the human leukocyte antigen (HLA) region, all previously unreported. rs78378222, a regulatory variant for TP53 is associated with a 40% reduction in overall HNSCC risk. We also identify gene-environment interactions, with BRCA2 and ADH1B variants showing effects modified by smoking and alcohol use. Subsite-specific analysis of the HLA region reveals distinct immune-related associations across HPV-positive and HPV-negative tumours. These findings refine the genetic architecture of HNSCC and highlight mechanisms linking inherited variation, immunity, and environmental exposures.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Cross-ancestral GWAS identifies 29 variants across head and neck cancer subsites
- Date Crossref
- 02/10/2025
- Éditeur
- Springer Science and Business Media LLC
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Les institutions déclarées
Une affiliation ne permet pas de déduire la nationalité d’un auteur.
Les sujets associés
RNA modifications and cancerCancer-related molecular mechanisms researchEpigenetics and DNA Methylation