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Cancers from Novel Pole-Mutant Mouse Models Provide Insights into Polymerase-Mediated Hypermutagenesis and Immune Checkpoint Blockade.
Galati MA, Hodel KP, Gams MS, Sudhaman S, Bridge T, Zahurancik WJ, Ungerleider NA, Park VS, Ercan AB, Joksimovic L, Siddiqui I, Siddaway R, Edwards M, de Borja R, Elshaer D, Chung J, Forster VJ, Nunes NM, Aronson M, Wang X, Ramdas J, Seeley A, Sarosiek T, Dunn GP, Byrd JN, Mordechai O, Durno C, Martin A, Shlien A, Bouffet E, Suo Z, Jackson JG, Hawkins CE, Guidos CJ, Pursell ZF, Tabori U. Galati MA, et al. Cancer Res. 2020 Dec 15;80(24):5606-5618. doi: 10.1158/0008-5472.CAN-20-0624. Epub 2020 Sep 16. Cancer Res. 2020. PMID: 32938641 Free PMC article.
Comprehensive Analysis of Hypermutation in Human Cancer.
Campbell BB, Light N, Fabrizio D, Zatzman M, Fuligni F, de Borja R, Davidson S, Edwards M, Elvin JA, Hodel KP, Zahurancik WJ, Suo Z, Lipman T, Wimmer K, Kratz CP, Bowers DC, Laetsch TW, Dunn GP, Johanns TM, Grimmer MR, Smirnov IV, Larouche V, Samuel D, Bronsema A, Osborn M, Stearns D, Raman P, Cole KA, Storm PB, Yalon M, Opocher E, Mason G, Thomas GA, Sabel M, George B, Ziegler DS, Lindhorst S, Issai VM, Constantini S, Toledano H, Elhasid R, Farah R, Dvir R, Dirks P, Huang A, Galati MA, Chung J, Ramaswamy V, Irwin MS, Aronson M, Durno C, Taylor MD, Rechavi G, Maris JM, Bouffet E, Hawkins C, Costello JF, Meyn MS, Pursell ZF, Malkin D, Tabori U, Shlien A. Campbell BB, et al. Among authors: galati ma. Cell. 2017 Nov 16;171(5):1042-1056.e10. doi: 10.1016/j.cell.2017.09.048. Epub 2017 Oct 19. Cell. 2017. PMID: 29056344 Free PMC article.
DNA Polymerase and Mismatch Repair Exert Distinct Microsatellite Instability Signatures in Normal and Malignant Human Cells.
Chung J, Maruvka YE, Sudhaman S, Kelly J, Haradhvala NJ, Bianchi V, Edwards M, Forster VJ, Nunes NM, Galati MA, Komosa M, Deshmukh S, Cabric V, Davidson S, Zatzman M, Light N, Hayes R, Brunga L, Anderson ND, Ho B, Hodel KP, Siddaway R, Morrissy AS, Bowers DC, Larouche V, Bronsema A, Osborn M, Cole KA, Opocher E, Mason G, Thomas GA, George B, Ziegler DS, Lindhorst S, Vanan M, Yalon-Oren M, Reddy AT, Massimino M, Tomboc P, Van Damme A, Lossos A, Durno C, Aronson M, Morgenstern DA, Bouffet E, Huang A, Taylor MD, Villani A, Malkin D, Hawkins CE, Pursell ZF, Shlien A, Kunkel TA, Getz G, Tabori U. Chung J, et al. Among authors: galati ma. Cancer Discov. 2021 May;11(5):1176-1191. doi: 10.1158/2159-8290.CD-20-0790. Epub 2020 Dec 18. Cancer Discov. 2021. PMID: 33355208 Free PMC article.
Mutations in the RAS/MAPK Pathway Drive Replication Repair-Deficient Hypermutated Tumors and Confer Sensitivity to MEK Inhibition.
Campbell BB, Galati MA, Stone SC, Riemenschneider AN, Edwards M, Sudhaman S, Siddaway R, Komosa M, Nunes NM, Nobre L, Morrissy AS, Zatzman M, Zapotocky M, Joksimovic L, Kalimuthu SN, Samuel D, Mason G, Bouffet E, Morgenstern DA, Aronson M, Durno C, Malkin D, Maris JM, Taylor MD, Shlien A, Pugh TJ, Ohashi PS, Hawkins CE, Tabori U. Campbell BB, et al. Among authors: galati ma. Cancer Discov. 2021 Jun;11(6):1454-1467. doi: 10.1158/2159-8290.CD-20-1050. Epub 2021 Feb 9. Cancer Discov. 2021. PMID: 33563663 Free PMC article.
Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance.
Durno C, Ercan AB, Bianchi V, Edwards M, Aronson M, Galati M, Atenafu EG, Abebe-Campino G, Al-Battashi A, Alharbi M, Azad VF, Baris HN, Basel D, Bedgood R, Bendel A, Ben-Shachar S, Blumenthal DT, Blundell M, Bornhorst M, Bronsema A, Cairney E, Rhode S, Caspi S, Chamdin A, Chiaravalli S, Constantini S, Crooks B, Das A, Dvir R, Farah R, Foulkes WD, Frenkel Z, Gallinger B, Gardner S, Gass D, Ghalibafian M, Gilpin C, Goldberg Y, Goudie C, Hamid SA, Hampel H, Hansford JR, Harlos C, Hijiya N, Hsu S, Kamihara J, Kebudi R, Knipstein J, Koschmann C, Kratz C, Larouche V, Lassaletta A, Lindhorst S, Ling SC, Link MP, Loret De Mola R, Luiten R, Lurye M, Maciaszek JL, MagimairajanIssai V, Maher OM, Massimino M, McGee RB, Mushtaq N, Mason G, Newmark M, Nicholas G, Nichols KE, Nicolaides T, Opocher E, Osborn M, Oshrine B, Pearlman R, Pettee D, Rapp J, Rashid M, Reddy A, Reichman L, Remke M, Robbins G, Roy S, Sabel M, Samuel D, Scheers I, Schneider KW, Sen S, Stearns D, Sumerauer D, Swallow C, Taylor L, Thomas G, Toledano H, Tomboc P, Van Damme A, Winer I, Yalon M, Yen LY, Zapotocky M, Zelcer S, Ziegler DS, Zimmermann S, Hawkins C, Malkin D, Bouffet E, Villani A, Tabori U. Durno C, et al. J Clin Oncol. 2021 Sep 1;39(25):2779-2790. doi: 10.1200/JCO.20.02636. Epub 2021 May 4. J Clin Oncol. 2021. PMID: 33945292 Free PMC article.
Biallelic EPCAM deletions induce tissue-specific DNA repair deficiency and cancer predisposition.
Forster VJ, Aronson M, Zhang C, Chung J, Sudhaman S, Galati MA, Kelly J, Negm L, Ercan AB, Stengs L, Durno C, Edwards M, Komosa M, Oldfield LE, Nunes NM, Pedersen S, Wellum J, Siddiqui I, Bianchi V, Weil BR, Fox VL, Pugh TJ, Kamihara J, Tabori U. Forster VJ, et al. Among authors: galati ma. NPJ Precis Oncol. 2024 Mar 11;8(1):69. doi: 10.1038/s41698-024-00537-6. NPJ Precis Oncol. 2024. PMID: 38467830 Free PMC article.
Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A.
Han C, Alkhater R, Froukh T, Minassian AG, Galati M, Liu RH, Fotouhi M, Sommerfeld J, Alfrook AJ, Marshall C, Walker S, Bauer P, Scherer SW, Riess O, Buchert R, Minassian BA, McPherson PS. Han C, et al. Am J Hum Genet. 2016 Dec 1;99(6):1359-1367. doi: 10.1016/j.ajhg.2016.10.006. Epub 2016 Nov 17. Am J Hum Genet. 2016. PMID: 27866705 Free PMC article.