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Page 1
Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.
Palles C, West HD, Chew E, Galavotti S, Flensburg C, Grolleman JE, Jansen EAM, Curley H, Chegwidden L, Arbe-Barnes EH, Lander N, Truscott R, Pagan J, Bajel A, Sherwood K, Martin L, Thomas H, Georgiou D, Fostira F, Goldberg Y, Adams DJ, van der Biezen SAM, Christie M, Clendenning M, Thomas LE, Deltas C, Dimovski AJ, Dymerska D, Lubinski J, Mahmood K, van der Post RS, Sanders M, Weitz J, Taylor JC, Turnbull C, Vreede L, van Wezel T, Whalley C, Arnedo-Pac C, Caravagna G, Cross W, Chubb D, Frangou A, Gruber AJ, Kinnersley B, Noyvert B, Church D, Graham T, Houlston R, Lopez-Bigas N, Sottoriva A, Wedge D; Genomics England Research Consortium; CORGI Consortium; WGS500 Consortium; Jenkins MA, Kuiper RP, Roberts AW, Cheadle JP, Ligtenberg MJL, Hoogerbrugge N, Koelzer VH, Rivas AD, Winship IM, Ponte CR, Buchanan DD, Power DG, Green A, Tomlinson IPM, Sampson JR, Majewski IJ, de Voer RM. Palles C, et al. Among authors: caravagna g. Am J Hum Genet. 2022 May 5;109(5):953-960. doi: 10.1016/j.ajhg.2022.03.018. Epub 2022 Apr 22. Am J Hum Genet. 2022. PMID: 35460607 Free PMC article.
The genomic landscape of 2,023 colorectal cancers.
Cornish AJ, Gruber AJ, Kinnersley B, Chubb D, Frangou A, Caravagna G, Noyvert B, Lakatos E, Wood HM, Thorn S, Culliford R, Arnedo-Pac C, Househam J, Cross W, Sud A, Law P, Leathlobhair MN, Hawari A, Woolley C, Sherwood K, Feeley N, Gül G, Fernandez-Tajes J, Zapata L, Alexandrov LB, Murugaesu N, Sosinsky A, Mitchell J, Lopez-Bigas N, Quirke P, Church DN, Tomlinson IPM, Sottoriva A, Graham TA, Wedge DC, Houlston RS. Cornish AJ, et al. Among authors: caravagna g. Nature. 2024 Sep;633(8028):127-136. doi: 10.1038/s41586-024-07747-9. Epub 2024 Aug 7. Nature. 2024. PMID: 39112709 Free PMC article.
The co-evolution of the genome and epigenome in colorectal cancer.
Heide T, Househam J, Cresswell GD, Spiteri I, Lynn C, Mossner M, Kimberley C, Fernandez-Mateos J, Chen B, Zapata L, James C, Barozzi I, Chkhaidze K, Nichol D, Gunasri V, Berner A, Schmidt M, Lakatos E, Baker AM, Costa H, Mitchinson M, Piazza R, Jansen M, Caravagna G, Ramazzotti D, Shibata D, Bridgewater J, Rodriguez-Justo M, Magnani L, Graham TA, Sottoriva A. Heide T, et al. Among authors: caravagna g. Nature. 2022 Nov;611(7937):733-743. doi: 10.1038/s41586-022-05202-1. Epub 2022 Oct 26. Nature. 2022. PMID: 36289335 Free PMC article.
Phenotypic plasticity and genetic control in colorectal cancer evolution.
Househam J, Heide T, Cresswell GD, Spiteri I, Kimberley C, Zapata L, Lynn C, James C, Mossner M, Fernandez-Mateos J, Vinceti A, Baker AM, Gabbutt C, Berner A, Schmidt M, Chen B, Lakatos E, Gunasri V, Nichol D, Costa H, Mitchinson M, Ramazzotti D, Werner B, Iorio F, Jansen M, Caravagna G, Barnes CP, Shibata D, Bridgewater J, Rodriguez-Justo M, Magnani L, Sottoriva A, Graham TA. Househam J, et al. Among authors: caravagna g. Nature. 2022 Nov;611(7937):744-753. doi: 10.1038/s41586-022-05311-x. Epub 2022 Oct 26. Nature. 2022. PMID: 36289336 Free PMC article.
Long-term lineage commitment in haematopoietic stem cell gene therapy.
Calabria A, Spinozzi G, Cesana D, Buscaroli E, Benedicenti F, Pais G, Gazzo F, Scala S, Lidonnici MR, Scaramuzza S, Albertini A, Esposito S, Tucci F, Canarutto D, Omrani M, De Mattia F, Dionisio F, Giannelli S, Marktel S, Fumagalli F, Calbi V, Cenciarelli S, Ferrua F, Gentner B, Caravagna G, Ciceri F, Naldini L, Ferrari G, Aiuti A, Montini E. Calabria A, et al. Among authors: caravagna g. Nature. 2024 Dec;636(8041):162-171. doi: 10.1038/s41586-024-08250-x. Epub 2024 Oct 23. Nature. 2024. PMID: 39442556 Free PMC article.
Homopolymer switches mediate adaptive mutability in mismatch repair-deficient colorectal cancer.
Kayhanian H, Cross W, van der Horst SEM, Barmpoutis P, Lakatos E, Caravagna G, Zapata L, Van Hoeck A, Middelkamp S, Litchfield K, Steele C, Waddingham W, Patel D, Milite S, Jin C, Baker AM, Alexander DC, Khan K, Hochhauser D, Novelli M, Werner B, van Boxtel R, Hageman JH, Buissant des Amorie JR, Linares J, Ligtenberg MJL, Nagtegaal ID, Laclé MM, Moons LMG, Brosens LAA, Pillay N, Sottoriva A, Graham TA, Rodriguez-Justo M, Shiu KK, Snippert HJG, Jansen M. Kayhanian H, et al. Among authors: caravagna g. Nat Genet. 2024 Jul;56(7):1420-1433. doi: 10.1038/s41588-024-01777-9. Epub 2024 Jul 3. Nat Genet. 2024. PMID: 38956208 Free PMC article.
Transcriptional Phenocopies of Deleterious KEAP1 Mutations Correlate with Survival Outcomes in Lung Cancer Treated with Immunotherapy.
Scalera S, Ricciuti B, Marinelli D, Mazzotta M, Cipriani L, Bon G, Schiavoni G, Terrenato I, Di Federico A, Alessi JV, Fanciulli M, Ciuffreda L, De Nicola F, Goeman F, Caravagna G, Santini D, De Maria R, Cappuzzo F, Ciliberto G, Jamal-Hanjani M, Awad MM, McGranahan N, Maugeri-Saccà M. Scalera S, et al. Among authors: caravagna g. Clin Cancer Res. 2024 Oct 1;30(19):4397-4411. doi: 10.1158/1078-0432.CCR-24-0626. Clin Cancer Res. 2024. PMID: 38980931
Clonal KEAP1 mutations with loss of heterozygosity share reduced immunotherapy efficacy and low immune cell infiltration in lung adenocarcinoma.
Scalera S, Ricciuti B, Mazzotta M, Calonaci N, Alessi JV, Cipriani L, Bon G, Messina B, Lamberti G, Di Federico A, Pecci F, Milite S, Krasniqi E, Barba M, Vici P, Vecchione A, De Nicola F, Ciuffreda L, Goeman F, Fanciulli M, Buglioni S, Pescarmona E, Sharma B, Felt KD, Lindsay J, Rodig SJ, De Maria R, Caravagna G, Cappuzzo F, Ciliberto G, Awad MM, Maugeri-Saccà M. Scalera S, et al. Among authors: caravagna g. Ann Oncol. 2023 Mar;34(3):275-288. doi: 10.1016/j.annonc.2022.12.002. Epub 2022 Dec 13. Ann Oncol. 2023. PMID: 36526124 Free article.
47 results