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Germline-driven replication repair-deficient high-grade gliomas exhibit unique hypomethylation patterns.
Dodgshun AJ, Fukuoka K, Edwards M, Bianchi VJ, Das A, Sexton-Oates A, Larouche V, Vanan MI, Lindhorst S, Yalon M, Mason G, Crooks B, Constantini S, Massimino M, Chiaravalli S, Ramdas J, Mason W, Ashraf S, Farah R, Van Damme A, Opocher E, Hamid SA, Ziegler DS, Samuel D, Cole KA, Tomboc P, Stearns D, Thomas GA, Lossos A, Sullivan M, Hansford JR, Mackay A, Jones C, Jones DTW, Ramaswamy V, Hawkins C, Bouffet E, Tabori U. Dodgshun AJ, et al. Among authors: edwards m. Acta Neuropathol. 2020 Nov;140(5):765-776. doi: 10.1007/s00401-020-02209-8. Epub 2020 Sep 8. Acta Neuropathol. 2020. PMID: 32895736
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: edwards m. 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.
Concomitant IDH wild-type glioblastoma and IDH1-mutant anaplastic astrocytoma in a patient with constitutional mismatch repair deficiency syndrome.
Galuppini F, Opocher E, Tabori U, Mammi I, Edwards M, Campbell B, Kelly J, Viel A, Quaia M, Rivieri F, D'Avella D, Arcella A, Giangaspero F, Fassan M, Gardiman MP. Galuppini F, et al. Among authors: edwards m. Neuropathol Appl Neurobiol. 2018 Feb;44(2):233-239. doi: 10.1111/nan.12450. Neuropathol Appl Neurobiol. 2018. PMID: 29130549 No abstract available.
Functional Repair Assay for the Diagnosis of Constitutional Mismatch Repair Deficiency From Non-Neoplastic Tissue.
Shuen AY, Lanni S, Panigrahi GB, Edwards M, Yu L, Campbell BB, Mandel A, Zhang C, Zhukova N, Alharbi M, Bernstein M, Bowers DC, Carroll S, Cole KA, Constantini S, Crooks B, Dvir R, Farah R, Hijiya N, George B, Laetsch TW, Larouche V, Lindhorst S, Luiten RC, Magimairajan V, Mason G, Mason W, Mordechai O, Mushtaq N, Nicholas G, Oren M, Palma L, Pedroza LA, Ramdas J, Samuel D, Wolfe Schneider K, Seeley A, Semotiuk K, Shamvil A, Sumerauer D, Toledano H, Tomboc P, Wierman M, Van Damme A, Lee YY, Zapotocky M, Bouffet E, Durno C, Aronson M, Gallinger S, Foulkes WD, Malkin D, Tabori U, Pearson CE. Shuen AY, et al. Among authors: edwards m. J Clin Oncol. 2019 Feb 20;37(6):461-470. doi: 10.1200/JCO.18.00474. Epub 2019 Jan 4. J Clin Oncol. 2019. PMID: 30608896
Position paper: Challenges and specific strategies for constitutional mismatch repair deficiency syndrome in low-resource settings.
Kebudi R, Amayiri N, Abedalthagafi M, Rana AN, Kirmani S, Musthaq N, Lamki ZA, Houdzi JE, Yazici H, El-Naggar S, Edwards M, Bianchi VJ, Durno C, Tabori U, Bouffet E; International RRD Consortium on Low-Resource Settings Panel. Kebudi R, et al. Among authors: edwards m. Pediatr Blood Cancer. 2020 Aug;67(8):e28309. doi: 10.1002/pbc.28309. Epub 2020 May 30. Pediatr Blood Cancer. 2020. PMID: 32472748 Review.
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. Among authors: edwards m. 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.
An Integrative DNA Sequencing and Methylation Panel to Assess Mismatch Repair Deficiency.
Oldfield LE, Li T, Tone A, Aronson M, Edwards M, Holter S, Quevedo R, Van de Laar E, Lerner-Ellis J, Pollett A, Clarke B, Tabori U, Gallinger S, Ferguson SE, Pugh TJ. Oldfield LE, et al. Among authors: edwards m. J Mol Diagn. 2021 Feb;23(2):242-252. doi: 10.1016/j.jmoldx.2020.11.006. Epub 2020 Nov 28. J Mol Diagn. 2021. PMID: 33259954 Free 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: edwards m. 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: edwards m. 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.
5,038 results