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Abnormality of DNA repair

MedGen UID:
867470
Concept ID:
C4021848
Cell or Molecular Dysfunction
Synonyms: Abnormal DNA Repair; DNA Repair Abnormality
 
HPO: HP:0003254

Definition

An abnormality of the process of DNA repair, that is, of the process of restoring DNA after damage. [from HPO]

Professional guidelines

PubMed

Liu Z, Qin Z, Liu Y, Xia X, He L, Chen N, Hu X, Peng X
Int J Biol Sci 2023;19(13):4139-4156. Epub 2023 Aug 6 doi: 10.7150/ijbs.81521. PMID: 37705755Free PMC Article
Fiesco-Roa MO, Giri N, McReynolds LJ, Best AF, Alter BP
Blood Rev 2019 Sep;37:100589. Epub 2019 Jul 16 doi: 10.1016/j.blre.2019.100589. PMID: 31351673Free PMC Article
Yazdani R, Fekrvand S, Shahkarami S, Azizi G, Moazzami B, Abolhassani H, Aghamohammadi A
Clin Immunol 2019 Jan;198:19-30. Epub 2018 Nov 13 doi: 10.1016/j.clim.2018.11.007. PMID: 30439505

Recent clinical studies

Etiology

Pearsall EA, Lincz LF, Skelding KA
Curr Drug Targets 2018;19(10):1205-1219. doi: 10.2174/1389450119666180110093713. PMID: 29318968
Karikkineth AC, Scheibye-Knudsen M, Fivenson E, Croteau DL, Bohr VA
Ageing Res Rev 2017 Jan;33:3-17. Epub 2016 Aug 6 doi: 10.1016/j.arr.2016.08.002. PMID: 27507608Free PMC Article
Sun R, Liu M, Lu L, Zheng Y, Zhang P
Cell Biochem Biophys 2015 Jul;72(3):857-60. doi: 10.1007/s12013-015-0551-6. PMID: 25638345
Lehmann AR, McGibbon D, Stefanini M
Orphanet J Rare Dis 2011 Nov 1;6:70. doi: 10.1186/1750-1172-6-70. PMID: 22044607Free PMC Article
Knudson AG
Am J Med Genet 2002 Jul 22;111(1):96-102. doi: 10.1002/ajmg.10320. PMID: 12124744

Diagnosis

Dev N, Aggarwal P
Indian J Med Res 2020 Nov;152(Suppl 1):S74-S75. doi: 10.4103/ijmr.IJMR_2097_19. PMID: 35345132Free PMC Article
Karikkineth AC, Scheibye-Knudsen M, Fivenson E, Croteau DL, Bohr VA
Ageing Res Rev 2017 Jan;33:3-17. Epub 2016 Aug 6 doi: 10.1016/j.arr.2016.08.002. PMID: 27507608Free PMC Article
Sun R, Liu M, Lu L, Zheng Y, Zhang P
Cell Biochem Biophys 2015 Jul;72(3):857-60. doi: 10.1007/s12013-015-0551-6. PMID: 25638345
Lehmann AR, McGibbon D, Stefanini M
Orphanet J Rare Dis 2011 Nov 1;6:70. doi: 10.1186/1750-1172-6-70. PMID: 22044607Free PMC Article
Der Kaloustian VM, Kurban AK
Br J Dermatol 1973 May;88(5):513-5. doi: 10.1111/j.1365-2133.1973.tb15461.x. PMID: 4577062

Therapy

Vermij L, Léon-Castillo A, Singh N, Powell ME, Edmondson RJ, Genestie C, Khaw P, Pyman J, McLachlin CM, Ghatage P, de Boer SM, Nijman HW, Smit VTHBM, Crosbie EJ, Leary A, Creutzberg CL, Horeweg N, Bosse T; TransPORTEC consortium
Mod Pathol 2022 Oct;35(10):1475-1483. Epub 2022 Jun 25 doi: 10.1038/s41379-022-01102-x. PMID: 35752743Free PMC Article
León-Castillo A, de Boer SM, Powell ME, Mileshkin LR, Mackay HJ, Leary A, Nijman HW, Singh N, Pollock PM, Bessette P, Fyles A, Haie-Meder C, Smit VTHBM, Edmondson RJ, Putter H, Kitchener HC, Crosbie EJ, de Bruyn M, Nout RA, Horeweg N, Creutzberg CL, Bosse T; TransPORTEC consortium
J Clin Oncol 2020 Oct 10;38(29):3388-3397. Epub 2020 Aug 4 doi: 10.1200/JCO.20.00549. PMID: 32749941Free PMC Article
Han B, Meng X, Wu P, Li Z, Li S, Zhang Y, Zha C, Ye Q, Jiang C, Cai J, Jiang T
Theranostics 2020;10(7):3351-3365. Epub 2020 Feb 10 doi: 10.7150/thno.41219. PMID: 32194873Free PMC Article
de Laat WL, Jaspers NG, Hoeijmakers JH
Genes Dev 1999 Apr 1;13(7):768-85. doi: 10.1101/gad.13.7.768. PMID: 10197977
Legator MS, Flamm WG
Annu Rev Biochem 1973;42:683-708. doi: 10.1146/annurev.bi.42.070173.003343. PMID: 4581234

Prognosis

Galant N, Krawczyk P, Monist M, Obara A, Gajek Ł, Grenda A, Nicoś M, Kalinka E, Milanowski J
Int J Mol Sci 2024 May 28;25(11) doi: 10.3390/ijms25115893. PMID: 38892080Free PMC Article
Vermij L, Léon-Castillo A, Singh N, Powell ME, Edmondson RJ, Genestie C, Khaw P, Pyman J, McLachlin CM, Ghatage P, de Boer SM, Nijman HW, Smit VTHBM, Crosbie EJ, Leary A, Creutzberg CL, Horeweg N, Bosse T; TransPORTEC consortium
Mod Pathol 2022 Oct;35(10):1475-1483. Epub 2022 Jun 25 doi: 10.1038/s41379-022-01102-x. PMID: 35752743Free PMC Article
Li S, Qian D, Thompson BA, Gutierrez S, Wu S, Pesaran T, LaDuca H, Lu HM, Chao EC, Black MH
J Med Genet 2020 Jan;57(1):62-69. Epub 2019 Aug 7 doi: 10.1136/jmedgenet-2019-106096. PMID: 31391288
Black JO
Head Neck Pathol 2016 Jun;10(2):139-44. Epub 2016 Mar 14 doi: 10.1007/s12105-016-0707-8. PMID: 26975629Free PMC Article
Cancer Genome Atlas Research Network
Cell 2015 Nov 5;163(4):1011-25. doi: 10.1016/j.cell.2015.10.025. PMID: 26544944Free PMC Article

Clinical prediction guides

Nishibuchi I, Tashiro S
J Radiat Res 2024 Dec 16;65(Supplement_1):i52-i56. doi: 10.1093/jrr/rrae081. PMID: 39679883Free PMC Article
Crochemore C, Chica C, Garagnani P, Lattanzi G, Horvath S, Sarasin A, Franceschi C, Bacalini MG, Ricchetti M
Aging Cell 2023 Oct;22(10):e13959. Epub 2023 Sep 8 doi: 10.1111/acel.13959. PMID: 37688320Free PMC Article
de Boer M, Te Lintel Hekkert M, Chang J, van Thiel BS, Martens L, Bos MM, de Kleijnen MGJ, Ridwan Y, Octavia Y, van Deel ED, Blonden LA, Brandt RMC, Barnhoorn S, Bautista-Niño PK, Krabbendam-Peters I, Wolswinkel R, Arshi B, Ghanbari M, Kupatt C, de Windt LJ, Danser AHJ, van der Pluijm I, Remme CA, Stoll M, Pothof J, Roks AJM, Kavousi M, Essers J, van der Velden J, Hoeijmakers JHJ, Duncker DJ
Aging Cell 2023 Mar;22(3):e13768. Epub 2023 Feb 8 doi: 10.1111/acel.13768. PMID: 36756698Free PMC Article
Ali JYH, Fitieh AM, Ismail IH
Int J Mol Sci 2022 May 19;23(10) doi: 10.3390/ijms23105688. PMID: 35628498Free PMC Article
Ellis NA
Curr Opin Genet Dev 1997 Jun;7(3):354-63. doi: 10.1016/s0959-437x(97)80149-9. PMID: 9229111

Recent systematic reviews

Seyoum Tola F
Medicine (Baltimore) 2024 May 10;103(19):e38154. doi: 10.1097/MD.0000000000038154. PMID: 38728462Free PMC Article
De Vitis LA, Schivardi G, Caruso G, Fumagalli C, Vacirca D, Achilarre MT, Aloisi A, Garbi A, Zanagnolo V, Aletti G, Guerini-Rocco E, Mariani A, Maggioni A, Barberis M, Bogani G, Colombo N, Multinu F, Betella I
Int J Gynecol Cancer 2024 Feb 5;34(2):229-238. doi: 10.1136/ijgc-2023-004864. PMID: 38135437
He J, Wang Z, Wang Y, Liu F, Fu L, Jiang X, Wang P, Chen H, Hu M, Cai H
Pathol Res Pract 2023 Feb;242:154291. Epub 2022 Dec 26 doi: 10.1016/j.prp.2022.154291. PMID: 36696806
Brambullo T, Colonna MR, Vindigni V, Piaserico S, Masciopinto G, Galeano M, Costa AL, Bassetto F
Biomed Res Int 2022;2022:8549532. Epub 2022 Jul 18 doi: 10.1155/2022/8549532. PMID: 35898688Free PMC Article
Raffone A, Travaglino A, Gabrielli O, Micheli M, Zuccalà V, Bitonti G, Camastra C, Gargiulo V, Insabato L, Zullo F
Arch Gynecol Obstet 2021 Jun;303(6):1393-1400. Epub 2021 Mar 23 doi: 10.1007/s00404-021-06028-4. PMID: 33754186Free PMC Article

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