Tehran University of Medical Sciences

Science Communicator Platform

Stay connected! Follow us on X network (Twitter):
Share By
Cross-Ancestral Gwas Identifies 29 Variants Across Head and Neck Cancer Subsites Publisher Pubmed



Ebrahimi E ; Sangphukieo A ; Park HA ; Gaborieau V ; Ferreiroiglesias A ; Diergaarde B ; Ahrens W ; Alemany L ; Arantes LMRB ; Betka J ; Bratman SV ; Canova C ; Conlon MSC ; Conway DI Show All Authors
Authors
  1. Ebrahimi E
  2. Sangphukieo A
  3. Park HA
  4. Gaborieau V
  5. Ferreiroiglesias A
  6. Diergaarde B
  7. Ahrens W
  8. Alemany L
  9. Arantes LMRB
  10. Betka J
  11. Bratman SV
  12. Canova C
  13. Conlon MSC
  14. Conway DI
  15. Cuello M
  16. Curado MP
  17. De Carvalho AC
  18. De Oliviera JC
  19. Gormley M
  20. Hadji M
  21. Hargreaves S
  22. Healy CM
  23. Holcatova I
  24. Hung RJ
  25. Kowalski LP
  26. Lagiou P
  27. Lagiou A
  28. Liu G
  29. Macfarlane GJ
  30. Olshan AF
  31. Perdomo Velasquez S
  32. Pinto LFR
  33. De Podesta JRV
  34. Polesel J
  35. Pring M
  36. Rashidian H
  37. Gama RR
  38. Richiardi L
  39. Robinson M
  40. Rodriguez Urrego PA
  41. Santi SA
  42. Saunders DP
  43. Soareslima SC
  44. Timpson N
  45. Vilensky M
  46. Von Zeidler SV
  47. Waterboer T
  48. Zendehdel K
  49. Znaor A
  50. Brennan P
  51. Wright S
  52. Whitmarsh A
  53. Valenzuela A
  54. Ucross G
  55. Tous S
  56. Torres O
  57. Thomas S
  58. Stura A
  59. De Oliveira JS
  60. Sosa C
  61. Sorroche BP
  62. Smart S
  63. Siefer O
  64. Sharma SJ
  65. Serrano R
  66. Sena A
  67. Segovia J
  68. Scapultamponeto C
  69. Santivanez JJ
  70. Saintigny P
  71. Ali TS
  72. Roux PE
  73. Ross A
  74. Rodriguez MI
  75. Rodriguez I
  76. Rodilla F
  77. Riva G
  78. Ricardi U
  79. Renard H
  80. Reis RM
  81. Rego JNI
  82. Rasul S
  83. Ramieri G
  84. Prager KM
  85. Prado CP
  86. Poveda A
  87. Popovic M
  88. Pomata A
  89. Pervez S
  90. Perol O
  91. Pereira DM
  92. Pecorari G
  93. Casabona SP
  94. Paterson C
  95. Palau M
  96. Ostellino O
  97. Ospina V
  98. Osorio M
  99. Ortiz J
  100. Ortiz H
  101. De Oliveira JC
  102. Oliva M
  103. Neves AB
  104. Ness A
  105. Munoz A
  106. Cortes FM
  107. Montealegrepaez AL
  108. Mongelos P
  109. Moccia C
  110. Mineiro MS
  111. Michels B
  112. Meza L
  113. Mendoza L
  114. Mendonca EF
  115. Mena C
  116. Mcmahon AD
  117. Mccaul J
  118. Marzban M
  119. De Abreu PM
  120. Manos M
  121. Rocha RM
  122. Zorzaneli WM
  123. Gonzalez IL
  124. Dias FL
  125. Lenzi J
  126. Legal E
  127. Klumann JP
  128. Kana M
  129. Johannsen J
  130. Siddiqui MI
  131. Iorio GC
  132. Insfran M
  133. Hurley K
  134. De Sa Santos MH
  135. Hayes DN
  136. Hakim JA
  137. Guasch A
  138. Co ACG
  139. Grega M
  140. Santanna JG
  141. De Aquino Goulart MA
  142. Giglio R
  143. Gholipour M
  144. Garzinodemo P
  145. Gangemi M
  146. Villefort RF
  147. Figueira FF
  148. Fiano V
  149. Fervers B
  150. Fernandes GA
  151. Escallon A
  152. Durant LC
  153. De Souza ED
  154. Dias TC
  155. Cuffini C
  156. Creaney G
  157. Costa I
  158. Clavero O
  159. Chundriger Q
  160. Chopard P
  161. Chiusa L
  162. Carvalho AL
  163. Carvalho RS
  164. Cantor E
  165. Cabanas ML
  166. Burtica C
  167. Brentisci C
  168. Brenner N
  169. Brenes J
  170. Bouvard L
  171. Botta MG
  172. Zimmermann JB
  173. Rodrigues NB
  174. Bernal P
  175. Berenstein B
  176. Beraldi B
  177. Daniel CB
  178. Baldionelorza AM
  179. Avondet L
  180. Avello Y
  181. Arguello L
  182. Arantes PE
  183. Anwar N
  184. Pavon MA
  185. Alwaheidi SF
  186. Alibhai S
  187. Agudo A
  188. Adam R
  189. Timpson N
  190. Pinto LF
  191. Mckay J
  192. Virani S
  193. Dudding T

Source: Nature Communications Published:2025


Abstract

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. © 2025 Elsevier B.V., All rights reserved.