Ana Patiño-García, Elizabeth Guruceaga, Maria Pilar Andueza, Marimar Ocón, Jafait Junior Fodop Sokoudjou, Nicolás de Villalonga Zornoza, Gorka Alkorta-Aranburu, Ibon Tamayo Uria, Alfonso Gurpide, Carlos Camps, Eloísa Jantus-Lewintre, Maria Navamuel-Andueza, Miguel F Sanmamed, Ignacio Melero, Mohamed Elgendy, Juan Pablo Fusco, Javier J Zulueta, Juan P de-Torres, Gorka Bastarrika, Luis Seijo, Ruben Pio, Luis M Montuenga, Mikel Hernáez, Idoia Ochoa, Jose Luis Perez-Gracia
BACKGROUND: Tobacco is the main risk factor for developing lung cancer. Yet, while some heavy smokers develop lung cancer at a young age, other heavy smokers never develop it, even at an advanced age, suggesting a remarkable variability in the individual susceptibility to the carcinogenic effects of tobacco. We characterized the germline profile of subjects presenting these extreme phenotypes with Whole Exome Sequencing (WES) and Machine Learning (ML). METHODS: We sequenced germline DNA from heavy smokers who either developed lung adenocarcinoma at an early age (extreme cases) or who did not develop lung cancer at an advanced age (extreme controls), selected from databases including over 6600 subjects...
March 13, 2024: EBioMedicine