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Page 1
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: bianchi vj. Acta Neuropathol. 2020 Nov;140(5):765-776. doi: 10.1007/s00401-020-02209-8. Epub 2020 Sep 8. Acta Neuropathol. 2020. PMID: 32895736
Genomic predictors of response to PD-1 inhibition in children with germline DNA replication repair deficiency.
Das A, Sudhaman S, Morgenstern D, Coblentz A, Chung J, Stone SC, Alsafwani N, Liu ZA, Karsaneh OAA, Soleimani S, Ladany H, Chen D, Zatzman M, Cabric V, Nobre L, Bianchi V, Edwards M, Sambira Nahum LC, Ercan AB, Nabbi A, Constantini S, Dvir R, Yalon-Oren M, Campino GA, Caspi S, Larouche V, Reddy A, Osborn M, Mason G, Lindhorst S, Bronsema A, Magimairajan V, Opocher E, De Mola RL, Sabel M, Frojd C, Sumerauer D, Samuel D, Cole K, Chiaravalli S, Massimino M, Tomboc P, Ziegler DS, George B, Van Damme A, Hijiya N, Gass D, McGee RB, Mordechai O, Bowers DC, Laetsch TW, Lossos A, Blumenthal DT, Sarosiek T, Yen LY, Knipstein J, Bendel A, Hoffman LM, Luna-Fineman S, Zimmermann S, Scheers I, Nichols KE, Zapotocky M, Hansford JR, Maris JM, Dirks P, Taylor MD, Kulkarni AV, Shroff M, Tsang DS, Villani A, Xu W, Aronson M, Durno C, Shlien A, Malkin D, Getz G, Maruvka YE, Ohashi PS, Hawkins C, Pugh TJ, Bouffet E, Tabori U. Das A, et al. Nat Med. 2022 Jan;28(1):125-135. doi: 10.1038/s41591-021-01581-6. Epub 2022 Jan 6. Nat Med. 2022. PMID: 34992263 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: bianchi v. 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.
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.
Genomic Microsatellite Signatures Identify Germline Mismatch Repair Deficiency and Risk of Cancer Onset.
Chung J, Negm L, Bianchi V, Stengs L, Das A, Liu ZA, Sudhaman S, Aronson M, Brunga L, Edwards M, Forster V, Komosa M, Davidson S, Lees J, Tomboc P, Samuel D, Farah R, Bendel A, Knipstein J, Schneider KW, Reschke A, Zelcer S, Zorzi A, McWilliams R, Foulkes WD, Bedgood R, Peterson L, Rhode S, Van Damme A, Scheers I, Gardner S, Robbins G, Vanan MI, Meyn MS, Auer R, Leach B, Burke C, Villani A, Malkin D, Bouffet E, Huang A, Taylor MD, Durno C, Shlien A, Hawkins C, Getz G, Maruvka YE, Tabori U; International Replication Repair Deficiency Consortium. Chung J, et al. J Clin Oncol. 2023 Feb 1;41(4):766-777. doi: 10.1200/JCO.21.02873. Epub 2022 Oct 14. J Clin Oncol. 2023. PMID: 36240479 Free PMC article.
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: bianchi vj. Pediatr Blood Cancer. 2020 Aug;67(8):e28309. doi: 10.1002/pbc.28309. Epub 2020 May 30. Pediatr Blood Cancer. 2020. PMID: 32472748 Review.
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