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Page 1
Precision immuno-oncology approach for four malignant tumors in siblings with constitutional mismatch repair deficiency syndrome.
Palova H, Das A, Pokorna P, Bajciova V, Pavelka Z, Jezova M, Pal K, Dimayacyac JR, Negm L, Stengs L, Bianchi V, Vejmelkova K, Noskova K, Jarosova M, Mejstrikova S, Mudry P, Kyr M, Merta T, Tinka P, Drabova K, Aulicka S, Jugas R, Tabori U, Slaby O, Sterba J. Palova H, et al. Among authors: stengs l. NPJ Precis Oncol. 2024 May 21;8(1):110. doi: 10.1038/s41698-024-00597-8. NPJ Precis Oncol. 2024. PMID: 38773265 Free PMC article.
Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study.
Ercan AB, Aronson M, Fernandez NR, Chang Y, Levine A, Liu ZA, Negm L, Edwards M, Bianchi V, Stengs L, Chung J, Al-Battashi A, Reschke A, Lion A, Ahmad A, Lassaletta A, Reddy AT, Al-Darraji AF, Shah AC, Van Damme A, Bendel A, Rashid A, Margol AS, Kelly BL, Pencheva B, Heald B, Lemieux-Anglin B, Crooks B, Koschmann C, Gilpin C, Porter CC, Gass D, Samuel D, Ziegler DS, Blumenthal DT, Kuo DJ, Hamideh D, Basel D, Khuong-Quang DA, Stearns D, Opocher E, Carceller F, Baris Feldman H, Toledano H, Winer I, Scheers I, Fedorakova I, Su JM, Vengoechea J, Sterba J, Knipstein J, Hansford JR, Gonzales-Santos JR, Bhatia K, Bielamowicz KJ, Minhas K, Nichols KE, Cole KA, Penney L, Hjort MA, Sabel M, Gil-da-Costa MJ, Murray MJ, Miller M, Blundell ML, Massimino M, Al-Hussaini M, Al-Jadiry MF, Comito MA, Osborn M, Link MP, Zapotocky M, Ghalibafian M, Shaheen N, Mushtaq N, Waespe N, Hijiya N, Fuentes-Bolanos N, Ahmad O, Chamdine O, Roy P, Pichurin PN, Nyman P, Pearlman R, Auer RC, Sukumaran RK, Kebudi R, Dvir R, Raphael R, Elhasid R, McGee RB, Chami R, Noss R, Tanaka R, Raskin S, Sen S, Lindhorst S, Perreault S, Caspi S, Riaz S, Constantini S, Albert S, Chaleff S, Bielack S, Chiaravalli S, Cramer… See abstract for full author list ➔ Ercan AB, et al. Among authors: stengs l. Lancet Oncol. 2024 May;25(5):668-682. doi: 10.1016/S1470-2045(24)00026-3. Epub 2024 Mar 26. Lancet Oncol. 2024. PMID: 38552658
A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency.
Marín F, Canet-Hermida J, Bianchi V, Chung J, Wimmer K, Foulkes W, Pérez-Alonso V, Domínguez-Pinilla N, Sábado C, Vázquez-Gómez F, Molinés A, Fioravantti V, Carrasco E, Stengs L, Edwards M, Negm L, Das A, Aronson M, Pastor Á, Rueda D, González-Granado LI, Tabori U, Capellá G, Pineda M. Marín F, et al. Among authors: stengs l. Clin Chem. 2024 May 2;70(5):737-746. doi: 10.1093/clinchem/hvae027. Clin Chem. 2024. PMID: 38531023
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: stengs l. 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.
Combined Immunotherapy Improves Outcome for Replication-Repair-Deficient (RRD) High-Grade Glioma Failing Anti-PD-1 Monotherapy: A Report from the International RRD Consortium.
Das A, Fernandez NR, Levine A, Bianchi V, Stengs LK, Chung J, Negm L, Dimayacyac JR, Chang Y, Nobre L, Ercan AB, Sanchez-Ramirez S, Sudhaman S, Edwards M, Larouche V, Samuel D, Van Damme A, Gass D, Ziegler DS, Bielack SS, Koschmann C, Zelcer S, Yalon-Oren M, Campino GA, Sarosiek T, Nichols KE, Loret De Mola R, Bielamowicz K, Sabel M, Frojd CA, Wood MD, Glover JM, Lee YY, Vanan M, Adamski JK, Perreault S, Chamdine O, Hjort MA, Zapotocky M, Carceller F, Wright E, Fedorakova I, Lossos A, Tanaka R, Osborn M, Blumenthal DT, Aronson M, Bartels U, Huang A, Ramaswamy V, Malkin D, Shlien A, Villani A, Dirks PB, Pugh TJ, Getz G, Maruvka YE, Tsang DS, Ertl-Wagner B, Hawkins C, Bouffet E, Morgenstern DA, Tabori U. Das A, et al. Among authors: stengs lk. Cancer Discov. 2024 Feb 8;14(2):258-273. doi: 10.1158/2159-8290.CD-23-0559. Cancer Discov. 2024. PMID: 37823831 Free PMC article.
Efficacy of Nivolumab in Pediatric Cancers with High Mutation Burden and Mismatch Repair Deficiency.
Das A, Tabori U, Sambira Nahum LC, Collins NB, Deyell R, Dvir R, Faure-Conter C, Hassall TE, Minturn JE, Edwards M, Brookes E, Bianchi V, Levine A, Stone SC, Sudhaman S, Sanchez Ramirez S, Ercan AB, Stengs L, Chung J, Negm L, Getz G, Maruvka YE, Ertl-Wagner B, Ohashi PS, Pugh T, Hawkins C, Bouffet E, Morgenstern DA. Das A, et al. Among authors: stengs l. Clin Cancer Res. 2023 Dec 1;29(23):4770-4783. doi: 10.1158/1078-0432.CCR-23-0411. Clin Cancer Res. 2023. PMID: 37126021 Free PMC article.
Single-strand mismatch and damage patterns revealed by single-molecule DNA sequencing.
Liu MH, Costa B, Choi U, Bandler RC, Lassen E, Grońska-Pęski M, Schwing A, Murphy ZR, Rosenkjær D, Picciotto S, Bianchi V, Stengs L, Edwards M, Loh CA, Truong TK, Brand RE, Pastinen T, Wagner JR, Skytte AB, Tabori U, Shoag JE, Evrony GD. Liu MH, et al. Among authors: stengs l. bioRxiv [Preprint]. 2023 Feb 19:2023.02.19.526140. doi: 10.1101/2023.02.19.526140. bioRxiv. 2023. PMID: 36824744 Free PMC article. Preprint.
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. Among authors: stengs l. 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.