biostudies-literatureTorrens LCancer Research UKEquipe labellisee par la Ligue Nationale Contre le CancerNational Institutes of HealthBristol-Myers Squibb (BMS)Departament d&apos;Empresa i Coneixement, Generalitat de CatalunyaGeneralitat de CatalunyaInstitut National de la Santé et de la Recherche Médicale (Inserm)Deutsche ForschungsgemeinschaftInstituto de Salud Carlos IIIGilead Research Scholars (GRS)Samuel Waxman Cancer Research Foundation (SWCRF)Instituto de Salud Carlos III (ISCIII)Generalitat de Catalunya (Government of Catalonia)Tisch Cancer Institute GrantAsociación Española para el Estudio del HígadoAsociación Española para el Estudio del Hígado (AEEH)Deutsche Forschungsgemeinschaft (DFG)Ministerio de Ciencia e Innovación (MICINN)Bristol-Myers SquibbFondazione AIRC per la Ricerca sul CancroGilead Research ScholarsNational Institutes of Health (NIH)Labex OncoImmunology Investissement d'AvenirU.S. Department of Defense (DOD)Institut National de la Santé et de la Recherche MédicaleFundación Científica Asociación Española Contra el Cáncer (AECC)Departament d'Empresa i Coneixement, Generalitat de Catalunya (Ministry of Business and Knowledge, Government of Catalonia)Samuel Waxman Cancer Research FoundationMinisterio de Ciencia e InnovaciónU.S. Department of DefenseFundación Científica Asociación Española Contra el CáncerLabex OncoImmunology Investissement d&apos;Avenir4509-4520https://www.ebi.ac.uk/biostudies/studies/S-EPMC7613712biostudies-literatureUnknown28(20)<h4>Purpose</h4>Mongolia has the world's highest incidence of hepatocellular carcinoma (HCC), with ∼100 cases/100,000 inhabitants, although the reasons for this have not been thoroughly delineated.<h4>Experimental design</h4>We performed a molecular characterization of Mongolian (n = 192) compared with Western (n = 187) HCCs by RNA sequencing and whole-exome sequencing to unveil distinct genomic and transcriptomic features associated with environmental factors in this population.<h4>Results</h4>Mongolian patients were younger, with higher female prevalence, and with predominantly HBV-HDV coinfection etiology. Mongolian HCCs presented significantly higher rates of protein-coding mutations (121 vs. 70 mutations per tumor in Western), and in specific driver HCC genes (i.e., APOB and TSC2). FoClinical cancer research : an official journal of the American Association for Cancer ResearchHepatocellular Carcinoma in Mongolia Delineates Unique Molecular Traits and a Mutational Signature Associated with Environmental Agents.PMC7613712R01 DK128289-01PI15/00151 and PI18/00079HA 8754/1-1C9380/A26813IFI18/00006SGR-135826813PID2019-105378RB-I00P30 CA1965212017_SGR_1753CERCA ProgrammePI16/00111 and PI19/00036CA150272P3Taik PLeonel THaber PKWang HSia DEsteban-Fabro RTorrecilla STaivanbaatar ELeow WQVillanueva AMaeda MMontironi CNeely JPerez-Del-Pulgar SCamprecios GThung SZucman-Rossi JChinburen JEnkhbold CLlovet JMGarcia-Lopez MTorrens LPuigvehi MVaradarajan ARYerbolat ARoayaie STorres-Martin MForns XLetouze EUzilov AfalseHepatocellular Carcinoma in Mongolia Delineates Unique Molecular Traits and a Mutational Signature Associated with Environmental Agents.<h4>Purpose</h4>Mongolia has the world's highest incidence of hepatocellular carcinoma (HCC), with ∼100 cases/100,000 inhabitants, although the reasons for this have not been thoroughly delineated.<h4>Experimental design</h4>We performed a molecular characterization of Mongolian (n = 192) compared with Western (n = 187) HCCs by RNA sequencing and whole-exome sequencing to unveil distinct genomic and transcriptomic features associated with environmental factors in this population.<h4>Results</h4>Mongolian patients were younger, with higher female prevalence, and with predominantly HBV-HDV coinfection etiology. Mongolian HCCs presented significantly higher rates of protein-coding mutations (121 vs. 70 mutations per tumor in Western), and in specific driver HCC genes (i.e., APOB and TSC2). Fo2022-01-01T00:00:00Z2022 Oct2025-04-18T22:37:18.727Z2025-04-07T10:23:12.342ZS-EPMC76137123599801210.1158/1078-0432.CCR-22-063210.1158/1078-0432.ccr-22-0632