Our Group is pursuing a better understanding of the mechanisms behind the accumulation of genomic alterations in human tumours, transforming this knowledge into actionable insights for cancer diagnosis, prognosis, and treatment selection.
We specialise in developing computational methodologies, powered by artificial intelligence (AI), to characterise the molecular processes driving tumour development. By analysing the genomic patterns left by these different processes—known as mutational signatures—and integrating them with patient-specific clinical and epidemiological data, we aim to implement prevention strategies and develop novel clinical biomarkers.
Applying our methods to diverse cohorts of cancer patients, we aim to enhance the current understanding of the mechanisms underlying cancer initiation and progression across different populations worldwide, ultimately leading to more precise and equitable approaches to cancer care.
Publicaciones recientes
Basurto-Lozada P, Vázquez-Cruz ME, Molina-Aguilar C, Jiang A, Deacon DC, Cerrato-Izaguirre D, Simonin-Wilmer I, Arriaga-González FG, Contreras-Ramírez KL, Ferro-Rodríguez E, Billington J, Dawson ET, Wong-Ramirez JRC, Ramos-Galguera JI, Álvarez-Cano A, García-Ortega DY, García-Salinas OI, Hidalgo-Miranda A, Cisneros-Villanueva M, Johansson PA, Martínez-Said H, Gallego-García P, Arends MJ, Ferreira I, Tullett M, Olvera-León R, van der Weyden L, Del Castillo Velasco-Herrera M, Roldán-Marín R, Vidaurri de la Cruz H, Tavares-de-la-Paz LA, Hinojosa-Ugarte D, Belote RL, Bishop DT, Díaz-Gay M, Alexandrov LB, Sánchez-Pérez Y, In GK, White RM, Possik PA, Judson-Torres RL, Adams DJ, Robles-Espinoza CD (2026).Ancestry and somatic profile indicate acral melanoma origin and prognosis. Nature 651, 221-230. Publicación CNIO.
McElderry JP, Zhang T, Zhao W, Hoang PH, Anyaso-Samuel S, Sang J, Khandekar A, Hartman C, Colón-Matos FJ, Miraftab M, Saha M, Lee O, Sharma S, Jones KM, Zhu B, Díaz-Gay M, Mas L, Arrieta O, Edell ES, Santamaría JM, Schabath MB, Yendamuri S, Manczuk M, Lissowska J, Świątkowska B, Mukeria A, Shangina O, Zaridze D, Holcatova I, Janout V, Mates D, Ognjanovic S, Savic M, Kontic M, Bossé Y, Gould Rothberg BE, Christiani DC, Gaborieau V, Brennan P, Liu G, Hofman P, Wong MP, Leung KC, Chen CY, Hsiung CA, Rothman N, Leduc C, Baine MK, Travis WD, Sholl LM, Joubert P, Homer R, Yang SR, Lan Q, Nowak MA, Wedge DC, Alexandrov LB, Chanock SJ, Vogtmann E, Abnet CC, Shi J, Landi MT. (2026).Microbiome analysis of 940 lung cancers in never-smokers reveals lack of clinically relevant associations. Nat Commun 17, 192. Publicación en otras instituciones.
Díaz-Gay M, Dos Santos W, Moody S, Kazachkova M, Abbasi A, Steele CD, Vangara R, Senkin S, Wang J, Fitzgerald S, Bergstrom EN, Khandekar A, Otlu B, Abedi-Ardekani B, de Carvalho AC, Cattiaux T, Penha RCC, Gaborieau V, Chopard P, Carreira C, Cheema S, Latimer C, Teague JW, Mukeriya A, Zaridze D, Cox R, Albert M, Phouthavongsy L, Gallinger S, Malekzadeh R, Niavarani A, Miladinov M, Erić K, Milosavljevic S, Sangrajrang S, Curado MP, Aguiar S, Reis RM, Reis MT, Romagnolo LG, Guimarães DP, Holcatova I, Kalvach J, Vaccaro CA, Piñero TA, Świątkowska B, Lissowska J, Roszkowska-Purska K, Huertas-Salgado A, Shibata T, Shiba S, Sangkhathat S, Chitapanarux T, Roshandel G, Ashton-Prolla P, Damin DC, de Oliveira FH, Humphreys L, Lawley TD, Perdomo S, Stratton MR, Brennan P, Alexandrov LB. (2025).Geographic and age variations in mutational processes in colorectal cancer. Nature 643, 230-240. Publicación CNIO.
Díaz-Gay M, Zhang T, Hoang PH, Leduc C, Baine MK, Travis WD, Sholl LM, Joubert P, Khandekar A, Zhao W, Steele CD, Otlu B, Nandi SP, Vangara R, Bergstrom EN, Kazachkova M, Pich O, Swanton C, Hsiung CA, Chang IS, Wong MP, Leung KC, Sang J, McElderry JP, Hartman C, Colón-Matos FJ, Miraftab M, Saha M, Lee OW, Jones KM, Gallego-García P, Yang Y, Zhong X, Edell ES, Santamaría JM, Schabath MB, Yendamuri SS, Manczuk M, Lissowska J, Świątkowska B, Mukeria A, Shangina O, Zaridze D, Holcatova I, Mates D, Milosavljevic S, Kontic M, Bossé Y, Rothberg BEG, Christiani DC, Gaborieau V, Brennan P, Liu G, Hofman P, Yang L, Nowak MA, Shi J, Rothman N, Wedge DC, Homer R, Yang SR, Pesatori AC, Consonni D, Lan Q, Zhu B, Chanock SJ, Choi J, Alexandrov LB, Landi MT. (2025).The mutagenic forces shaping the genomes of lung cancer in never smokers. Nature 644, 133-144. Publicación CNIO.
Zhang T, Zhao W, Wirth C, Díaz-Gay M, Yin J, Cecati M, Marchegiani F, Hoang PH, Leduc C, Baine MK, Travis WD, Sholl LM, Joubert P, Sang J, McElderry JP, Antony M, Klein A, Khandekar A, Hartman C, Rosenbaum J, Colón-Matos FJ, Miraftab M, Saha M, Lee OW, Jones KM, Caporaso NE, Wong MP, Leung KC, Hsiung CA, Chen CY, Edell ES, Santamaría JM, Schabath MB, Yendamuri SS, Manczuk M, Lissowska J, Świątkowska B, Mukeria A, Shangina O, Zaridze D, Holcatova I, Mates D, Milosavljevic S, Savic M, Bossé Y, Rothberg BEG, Christiani DC, Gaborieau V, Brennan P, Liu G, Hofman P, Homer R, Yang SR, Pesatori AC, Consonni D, Yang L, Zhu B, Shi J, Brown K, Rothman N, Chanock SJ, Alexandrov LB, Choi J, Cardelli M, Lan Q, Nowak MA, Wedge DC, Landi MT. (2025).Uncovering the role of LINE-1 in the evolution of lung adenocarcinoma. Nature 650, 230-241. Publicación CNIO.
Torrens L, Moody S, de Carvalho AC, Kazachkova M, Abedi-Ardekani B, Cheema S, Senkin S, Cattiaux T, Cortez Cardoso Penha R, Atkins JR, Gaborieau V, Chopard P, Carreira C, Abbasi A, Bergstrom EN, Vangara R, Wang J, Fitzgerald S, Latimer C, Diaz-Gay M, Jones D, Teague J, Ribeiro Pinto F, Kowalski LP, Polesel J, Giudici F, de Oliveira JC, Lagiou P, Lagiou A, Vilensky M, Mates D, Mates IN, Arantes LM, Reis R, Podesta JRV, von Zeidler SV, Holcatova I, Curado MP, Canova C, Fabianova E, Rodríguez-Urrego PA, Humphreys L, Alexandrov LB, Brennan P, Stratton MR, Perdomo S. (2025).The complexity of tobacco smoke-induced mutagenesis in head and neck cancer. Nat Genet 57, 884-896. Publicación en otras instituciones.
Zhang T, Sang J, Hoang PH, Zhao W, Rosenbaum J, Johnson KE, Klimczak LJ, McElderry J, Klein A, Wirth C, Bergstrom EN, Díaz-Gay M, Vangara R, Colon-Matos F, Hutchinson A, Lawrence SM, Cole N, Zhu B, Przytycka TM, Shi J, Caporaso NE, Homer R, Pesatori AC, Consonni D, Imielinski M, Chanock SJ, Wedge DC, Gordenin DA, Alexandrov LB, Harris RS, Landi MT. (2025).APOBEC affects tumor evolution and age at onset of lung cancer in smokers. Nat Commun 16, 4711. Publicación en otras instituciones.
Domínguez-Rovira X, Arnau-Collell C, Gonfaus-Ortiz G, Llargués-Sistac G, Muñoz J, Llopis A, Soares de Lima Y, Herrera-Pariente C, Moreira L, Ocaña T, Díaz-Gay M, Cuatrecasas M, Carballal S, López-Novo A, Fernàndez G, Castells A, Bujanda L, Capellà G, Cubiella J, Rodríguez-Alcalde D, Valle L, Balaguer F, Ruiz-Ponte C, Bonjoch L, Castellví-Bel S (2025).Germline pathogenic variants in HIC1 DNA binding domains are associated with familial serrated polyposis syndrome. Int J Cancer 157, 1154-1167. Publicación en otras instituciones.
Helderman NC, Yang T, Palles C, Terlouw D, Mei H, Vorderman RHP, Cats D, Díaz-Gay M, Jongmans MCJ, Ramdien A, van de Beek I, Eleveld TF, Green A, Hes FJ, van den Heuvel-Eibrink MM, Van Der Kelen A, Kliesch S, Kuiper RP, Lakeman IMM, Lashley LEELO, Looijenga LHJ, Oud MS, Steingröver J, Tenenbaum-Rakover Y, Tops CM, Tüttelmann F, de Voer RM, Westra D, Wyrwoll MJ, Golubicki M, Antelo M, Bonjoch L, Terradas M, Valle L, Alexandrov LB, Morreau H, van Wezel T, Castellví-Bel S, Goldberg Y, Nielsen M. (2025).Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9. Hum. Genet. Genom. Adv. 6, 100480. Publicación CNIO.
Senkin S, Moody S, Díaz-Gay M, Abedi-Ardekani B, Cattiaux T, Ferreiro-Iglesias A, Wang J, Fitzgerald S, Kazachkova M, Vangara R, Le AP, Bergstrom EN, Khandekar A, Otlu B, Cheema S, Latimer C, Thomas E, Atkins JR, Smith-Byrne K, Cortez Cardoso Penha R, Carreira C, Chopard P, Gaborieau V, Keski-Rahkonen P, Jones D, Teague JW, Ferlicot S, Asgari M, Sangkhathat S, Attawettayanon W, Świątkowska B, Jarmalaite S, Sabaliauskaite R, Shibata T, Fukagawa A, Mates D, Jinga V, Rascu S, Mijuskovic M, Savic S, Milosavljevic S, Bartlett JMS, Albert M, Phouthavongsy L, Ashton-Prolla P, Botton MR, Silva Neto B, Bezerra SM, Curado MP, Zequi SC, Reis RM, Faria EF, de Menezes NS, Ferrari RS, Banks RE, Vasudev NS, Zaridze D, Mukeriya A, Shangina O, Matveev V, Foretova L, Navratilova M, Holcatova I, Hornakova A, Janout V, Purdue MP, Rothman N, Chanock SJ, Ueland PM, Johansson M, McKay J, Scelo G, Chanudet E, Humphreys L, de Carvalho AC, Perdomo S, Alexandrov LB, Stratton MR, Brennan P. (2024).Geographic variation of mutagenic exposures in kidney cancer genomes. Nature 629, 910-918. Publicación en otras instituciones.
Islam SMA, Díaz-Gay M, Wu Y, Barnes M, Vangara R, Bergstrom EN, He Y, Vella M, Wang J, Teague JW, Clapham P, Moody S, Senkin S, Li YR, Riva L, Zhang T, Gruber AJ, Steele CD, Otlu B, Khandekar A, Abbasi A, Humphreys L, Syulyukina N, Brady SW, Alexandrov BS, Pillay N, Zhang J, Adams DJ, Martincorena I, Wedge DC, Landi MT, Brennan P, Stratton MR, Rozen SG, Alexandrov LB. (2022).Uncovering novel mutational signatures by de novo extraction with SigProfilerExtractor. Cell Genomics 2, . Publicación en otras instituciones.
