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Page 1
Topography of mutational signatures in human cancer.
Otlu B, Díaz-Gay M, Vermes I, Bergstrom EN, Zhivagui M, Barnes M, Alexandrov LB. Otlu B, et al. Among authors: diaz gay m. Cell Rep. 2023 Aug 29;42(8):112930. doi: 10.1016/j.celrep.2023.112930. Epub 2023 Aug 4. Cell Rep. 2023. PMID: 37540596 Free PMC article.
Somatic mutational signatures in polyposis and colorectal cancer.
Grolleman JE, Díaz-Gay M, Franch-Expósito S, Castellví-Bel S, de Voer RM. Grolleman JE, et al. Among authors: diaz gay m. Mol Aspects Med. 2019 Oct;69:62-72. doi: 10.1016/j.mam.2019.05.002. Epub 2019 May 23. Mol Aspects Med. 2019. PMID: 31108140 Free article. Review.
Germline mutations in WNK2 could be associated with serrated polyposis syndrome.
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. Soares de Lima Y, et al. Among authors: diaz gay m. J Med Genet. 2023 Jun;60(6):557-567. doi: 10.1136/jmg-2022-108684. Epub 2022 Oct 21. J Med Genet. 2023. PMID: 36270769 Free PMC article.
Geographic variation of mutagenic exposures in kidney cancer genomes.
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. Senkin S, et al. Among authors: diaz gay m. Nature. 2024 May;629(8013):910-918. doi: 10.1038/s41586-024-07368-2. Epub 2024 May 1. Nature. 2024. PMID: 38693263 Free PMC article.
APOBEC shapes tumor evolution and age at onset of lung cancer in smokers.
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. Zhang T, et al. Among authors: diaz gay m. bioRxiv [Preprint]. 2024 Apr 3:2024.04.02.587805. doi: 10.1101/2024.04.02.587805. bioRxiv. 2024. PMID: 38617360 Free PMC article. Preprint.
CTNND1 is involved in germline predisposition to early-onset gastric cancer by affecting cell-to-cell interactions.
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. Herrera-Pariente C, et al. Among authors: diaz gay m. Gastric Cancer. 2024 Jul;27(4):747-759. doi: 10.1007/s10120-024-01504-7. Epub 2024 May 25. Gastric Cancer. 2024. PMID: 38796558 Free PMC article.
Uncovering novel mutational signatures by de novo extraction with SigProfilerExtractor.
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. Islam SMA, et al. Among authors: diaz gay m. Cell Genom. 2022 Nov 9;2(11):None. doi: 10.1016/j.xgen.2022.100179. Cell Genom. 2022. PMID: 36388765 Free PMC article.
Visualizing and exploring patterns of large mutational events with SigProfilerMatrixGenerator.
Khandekar A, Vangara R, Barnes M, Díaz-Gay M, Abbasi A, Bergstrom EN, Steele CD, Pillay N, Alexandrov LB. Khandekar A, et al. Among authors: diaz gay m. bioRxiv [Preprint]. 2023 Feb 4:2023.02.03.527015. doi: 10.1101/2023.02.03.527015. bioRxiv. 2023. Update in: BMC Genomics. 2023 Aug 21;24(1):469. doi: 10.1186/s12864-023-09584-y. PMID: 36778452 Free PMC article. Updated. Preprint.
29 results