Publications
2024
29. 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, Dawson ET, Wong-Ramirez JRC, Ramos-Galguera JI, Álvarez-Cano A, DY García-Ortega, García-Salinas OI, Hidalgo-Miranda A, Cisneros-Villanueva M, Martínez-Said H, Arends MJ, Ferreira I, Tullett M, Olvera-León R, van der Weyden L, Velasco-Herrera MDC, 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. “Ancestry and somatic profile predict acral melanoma origin and prognosis.” medRxiv (under review), 2024 [doi]
28. Bergstrom E, Abbasi A, Díaz-Gay M, Galland L, Lippman SM, Ladoire S, Alexandrov LB. “Deep learning predicts HRD and platinum response from histology slides in breast and ovarian cancer.” Journal of Clinical Oncology, 2024 [doi]
27. Díaz-Gay M, Zhang T, Hoang 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 J, Yang L, Nowak MA, Shi J, Rothman N, Wedge DC, Homer R, Yang SR, Lan Q, Zhu BC, Chanock S, Alexandrov LB, Landi MT. “The mutagenic forces shaping the genomic landscape of lung cancer in never smokers.” medRxiv (under review), 2024 [doi]
26. Herrera-Pariente C, Bonjoch L, Muñoz J, Fernàndez G, Soares de Lima Y, Mahmood R, Cuatrecasas M, Ocaña T, Lopez-Prades S, Llargués-Sistac G, Domínguez-Rovira X, Llach J, Luzko I, Díaz-Gay M, Lazaro C, Brunet J, Castillo-Manzano C, García-González MA, Lanas A, Carrillo M, Hernández San Gil R, Quintero E, Sala N, Llort G, Aguilera L, Carot L, Diez-Redondo P, Jover R, Ramon Y Cajal T, Cubiella J, Castells A, Balaguer F, Bujanda L, Castellví-Bel S, Moreira L. “CTNND1 is involved in germline predisposition to early-onset gastric cancer by affecting cell-to-cell interactions.” Gastric Cancer, 2024 [doi]
25. 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. “The Complexity of Tobacco Smoke-Induced Mutagenesis in Head and Neck Cancer.” medRxiv (under review), 2024 [doi]
22. 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. “Geographic variation of mutagenic exposures in kidney cancer genomes.” Nature, 2024 [doi]
23. 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. “APOBEC shapes tumor evolution and age at onset of lung cancer in smokers.” bioRxiv (under review), 2024 [doi]
2023
22. Díaz-Gay M^, Vangara R, Barnes M, Wang X, Islam SMA, Vermes I, Duke S, Narasimman NB, Yang T, Jiang Z, Moody S, Senkin S, Brennan P, Stratton MR, Alexandrov LB^. “Assigning mutational signatures to individual samples and individual somatic mutations with SigProfilerAssignment.” Bioinformatics, 2023 doi
21. Khandekar A, Vangara R, Barnes M, Díaz-Gay M, Abbasi A, Bergstrom EN, Steele CD, Pillay N, Alexandrov LB. “Visualizing and exploring patterns of large mutational events with SigProfilerMatrixGenerator.” BMC Genomics, 2023 [doi]
20. Otlu B, Díaz-Gay M, Vermes I, Bergstrom EN, Zhivagui M, Barnes M, Alexandrov LB. “Topography of mutational signatures in human cancer.” Cell Reports, 2023 [doi]
19. Bonjoch L, Soares de Lima Y, Díaz-Gay M, Dotti I, Muñoz J, Moreira L, Carballal S, Ocaña T, Cuatrecasas M, Ortiz O, Castells A, Pellisé M, Balaguer F, Salas A, Alexandrov LB, Castellví-Bel S. “Unraveling the impact of a germline heterozygous POLD1 frameshift variant in serrated polyposis syndrome.” Frontiers in Molecular Biosciences, 2023 [doi]
2022
18. 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. “Uncovering novel mutational signatures by de novo extraction with SigProfilerExtractor.” Cell Genomics, 2022. [doi] [journal cover]
17. Soares de Lima Y, Arnau-Collell C, Muñoz J, Herrera-Pariente C, Moreira L, Ocaña T, Díaz-Gay M, Franch-Expósito S, Cuatrecasas M, Carballal S, Lopez-Novo A, Moreno L, Fernàndez G, Díaz de Bustamante A, Peters S, Sommer AK, Spier I, Te Paske IBAW, van Herwaarden YJ, Castells A, Bujanda L, Capellà G, Steinke-Lange V, Mahmood K, Joo JE, Arnold J, Parry S, Macrae FA, Winship IM, Rosty C, Cubiella J, Rodríguez-Alcalde D, Holinski-Feder E, de Voer R, Buchanan DD, Aretz S, Ruiz-Ponte C, Valle L, Balaguer F, Bonjoch L, Castellvi-Bel S. “Germline mutations in WNK2 could be associated with serrated polyposis syndrome.” Journal of Medical Genetics, 2022 [doi]
2021
16. Díaz-Gay M, Alexandrov LB. “Unraveling the genomic landscape of colorectal cancer through mutational signatures.” Advances in Cancer Research, 2021. (Book chapter) [doi]
15. Golubicki M, Díaz-Gay M, Bonjoch L, Franch-Expósito S, Muñoz J, Cuatrecasas M, Ocaña T, Iseas S, Mendez G, Carballido M, Robbio J, Cisterna D, Roca E, Castells A, Balaguer F, Castellví-Bel S, Antelo M. “Comprehensive Genomic Characterization of Fifteen Early-Onset Lynch-Like Syndrome Colorectal Cancers.” Cancers, 2021. [doi]
14. Soares de Lima Y, Arnau-Collell C, Díaz-Gay M, Bonjoch L, Franch-Expósito S, Muñoz J, Moreira L, Ocaña T, Cuatrecasas M, Herrera-Pariente C, Carballal S, Moreno L, Díaz de Bustamante A, Castells A, Bujanda L, Cubiella J, Rodríguez-Alcalde D, Balaguer F, Castellví-Bel S. “Germline and Somatic Whole-Exome Sequencing Identifies New Candidate Genes Involved in Familial Predisposition to Serrated Polyposis Syndrome.” Cancers, 2021. [doi]
13. Herrera-Pariente C, Capó-García R, Díaz-Gay M, Carballal S, Muñoz J, Llach J, Sánchez A, Bonjoch L, Arnau-Collell C, Soares de Lima Y, Golubicki M, Jung G, Lozano JJ, Castells A, Balaguer F, Bujanda L, Castellví-Bel S, Moreira L. “Identification of New Genes Involved in Germline Predisposition to Early-Onset Gastric Cancer.” International Journal of Molecular Sciences, 2021. [doi]
2020
12. Golubicki M, Bonjoch L, Acuña-Ochoa JG, Díaz-Gay M, Muñoz J, Cuatrecasas M, Ocaña T, Iseas S, Mendez G, Cisterna D, Schubert SA, Nielsen M, van Wezel T, Goldberg Y, Pikarsky E, Robbio J, Roca E, Castells A, Balaguer F, Antelo M, Castellví-Bel S. “Germline biallelic Mcm8 variants are associated with early-onset Lynch-like syndrome.” JCI Insight, 2020. [doi]
11. Bonjoch L, Franch-Expósito S, Garre P, Belhadj S, Muñoz J, Arnau-Collell C, Díaz-Gay M, Gratacós-Mulleras A, Raimondi G, Esteban-Jurado C, Soares de Lima Y, Herrera-Pariente C, Cuatrecasas M, Ocaña T, Castells A, Fillat C, Capellá G, Balaguer F, Caldés T, Valle L, Castellví-Bel S. “Germline Mutations in FAF1 Are Associated With Hereditary Colorectal Cancer.” Gastroenterology, 2020. [doi]
10. Arnau-Collell C, Soares de Lima Y, Díaz-Gay M, Muñoz J, Carballal S, Bonjoch L, Moreira L, Lozano JJ, Ocaña T, Cuatrecasas M, Díaz de Bustamante A, Castells A, Capellà G, Bujanda L, Cubiella J, Rodríguez-Alcalde D, Balaguer F, Ruiz-Ponte C, Valle L, Moreno V, Castellvi-Bel S. “Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility.” Journal of Medical Genetics, 2020. [doi]
9. Franch-Expósito S, Bassaganyas L, Vila-Casadesús M, Hernández-Illán E, Esteban-Fabró R, Díaz-Gay M, Lozano JJ, Castells A, Llovet JM, Castellví-Bel S, Camps J. “CNApp, a tool for the quantification of copy number alterations and integrative analysis revealing clinical implications.” eLife, 2020. [doi]
8. Toma C*, Díaz-Gay M*, Franch-Expósito S, Arnau-Collell C, Overs B, Muñoz J, Bonjoch L, Soares de Lima Y, Ocaña T, Cuatrecasas M, Castells A, Bujanda L, Balaguer F, Cubiella J, Caldés T, Fullerton JM, Castellví-Bel S. “Using linkage studies combined with whole-exome sequencing to identify novel candidate genes for familial colorectal cancer.” International Journal of Cancer, 2020. [doi]
2019
7. Toma C*, Díaz-Gay M*, Soares de Lima Y, Arnau-Collell C, Franch-Expósito S, Muñoz J, Overs B, Bonjoch L, Carballal S, Ocaña T, Cuatrecasas M, Díaz de Bustamante A, Castells A, Bujanda L, Cubiella J, Balaguer F, Rodríguez-Alcalde D, Fullerton JM, Castellví-Bel S. “Identification of a Novel Candidate Gene for Serrated Polyposis Syndrome Germline Predisposition by Performing Linkage Analysis Combined With Whole-Exome Sequencing.” Clinical and Translational Gastroenterology, 2019. [doi]
6. Grolleman JE*, Díaz-Gay M*, Franch-Expósito S, Castellví-Bel S, de Voer RM. “Somatic mutational signatures in polyposis and colorectal cancer.” Molecular Aspects of Medicine, 2019. (Review) [doi]
5. Díaz-Gay M, Franch-Expósito S, Arnau-Collell C, Park S, Supek F, Muñoz J, Bonjoch L, Gratacós-Mulleras A, Sánchez-Rojas PA, Esteban-Jurado C, Ocaña T, Cuatrecasas M, Vila-Casadesús M, Lozano JJ, Parra G, Laurie S, Beltran S; EPICOLON Consortium, Castells A, Bujanda L, Cubiella J, Balaguer F, Castellví-Bel S. “Integrated Analysis of Germline and Tumor DNA Identifies New Candidate Genes Involved in Familial Colorectal Cancer.” Cancers, 2019. [doi]
4. Torabi K, Erola P, Alvarez-Mora MI, Díaz-Gay M, Ferrer Q, Castells A, Castellví-Bel S, Milà M, Lozano JJ, Miró R, Ried T, Ponsa I, Camps J. “Quantitative analysis of somatically acquired and constitutive uniparental disomy in gastrointestinal cancers.” International Journal of Cancer, 2019. [doi]
2018
3. Díaz-Gay M, Vila-Casadesús M, Franch-Expósito S, Hernández-Illán E, Lozano JJ, Castellví-Bel S. “Mutational Signatures in Cancer (MuSiCa): a web application to implement mutational signatures analysis in cancer samples.” BMC Bioinformatics, 2018. [doi]
2. Franch-Expósito S, Esteban-Jurado C, Garre P, Quintanilla I, Duran-Sanchon S, Díaz-Gay M, Bonjoch L, Cuatrecasas M, Samper E, Muñoz J, Ocaña T, Carballal S, López-Cerón M, Castells A; EPICOLON consortium, Vila-Casadesús M, Derdak S, Laurie S, Beltran S, Carvajal J, Bujanda L, Ruiz-Ponte C, Camps J, Gironella M, Lozano JJ, Balaguer F, Cubiella J, Caldés T, Castellví-Bel S. “Rare germline copy number variants in colorectal cancer predisposition characterized by exome sequencing analysis.” Journal of Genetics and Genomics, 2018. [doi]
2017
1. Esteban-Jurado C, Giménez-Zaragoza D, Muñoz J, Franch-Expósito S, Álvarez-Barona M, Ocaña T, Cuatrecasas M, Carballal S, López-Cerón M, Marti-Solano M, Díaz-Gay M, van Wezel T, Castells A, Bujanda L, Balmaña J, Gonzalo V, Llort G, Ruiz-Ponte C, Cubiella J, Balaguer F, Aligué R, Castellví-Bel S. “POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer.” Oncotarget, 2017. [doi]