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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

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
Svrcek M, Lascols O, Cohen R, Collura A, Jonchère V, Fléjou JF, Buhard O, Duval A
Bull Cancer 2019 Feb;106(2):119-128. Epub 2019 Feb 1 doi: 10.1016/j.bulcan.2018.12.008. PMID: 30713006
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

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
Tischkowitz MD, Hodgson SV
J Med Genet 2003 Jan;40(1):1-10. doi: 10.1136/jmg.40.1.1. PMID: 12525534Free PMC Article
Knudson AG
Am J Med Genet 2002 Jul 22;111(1):96-102. doi: 10.1002/ajmg.10320. PMID: 12124744

Diagnosis

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
Norgauer J, Idzko M, Panther E, Hellstern O, Herouy Y
Eur J Dermatol 2003 Jan-Feb;13(1):4-9. PMID: 12609773
Tischkowitz MD, Hodgson SV
J Med Genet 2003 Jan;40(1):1-10. doi: 10.1136/jmg.40.1.1. PMID: 12525534Free PMC Article

Therapy

Yurchenko AA, Rajabi F, Braz-Petta T, Fassihi H, Lehmann A, Nishigori C, Wang J, Padioleau I, Gunbin K, Panunzi L, Morice-Picard F, Laplante P, Robert C, Kannouche PL, Menck CFM, Sarasin A, Nikolaev SI
Nat Commun 2023 May 4;14(1):2561. doi: 10.1038/s41467-023-38311-0. PMID: 37142601Free 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
Tesileanu CMS, Sanson M, Wick W, Brandes AA, Clement PM, Erridge SC, Vogelbaum MA, Nowak AK, Baurain JF, Mason WP, Wheeler H, Chinot OL, Gill S, Griffin M, Rogers L, Taal W, Rudà R, Weller M, McBain C, van Linde ME, Aldape K, Jenkins RB, Kros JM, Wesseling P, von Deimling A, Hoogstrate Y, de Heer I, Atmodimedjo PN, Dubbink HJ, Brouwer RWW, van IJcken WFJ, Cheung KJ, Golfinopoulos V, Baumert BG, Gorlia T, French PJ, van den Bent MJ
Clin Cancer Res 2022 Jun 13;28(12):2527-2535. doi: 10.1158/1078-0432.CCR-21-4283. PMID: 35275197Free 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

Prognosis

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
Casey L, Singh N
Int J Gynecol Pathol 2021 Jan;40(1):5-16. doi: 10.1097/PGP.0000000000000710. PMID: 33290350
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
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

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
Maguina M, Kang PB, Tsai AC, Pacak CA
Muscle Nerve 2023 Feb;67(2):101-110. Epub 2022 Oct 3 doi: 10.1002/mus.27721. PMID: 36190439Free 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
Derby SJ, Chalmers AJ, Carruthers RD
Semin Radiat Oncol 2022 Jan;32(1):15-28. doi: 10.1016/j.semradonc.2021.09.005. PMID: 34861992
Lundt S, Ding S
Genes (Basel) 2021 Nov 9;12(11) doi: 10.3390/genes12111776. PMID: 34828382Free PMC Article

Recent systematic reviews

Yang H, Zhou L, Yang F, Chen J, Wang Y
Medicine (Baltimore) 2023 Apr 7;102(14):e33472. doi: 10.1097/MD.0000000000033472. PMID: 37026932Free PMC Article
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
Gohel D, Berguerand NC, Tassone F, Singh R
Biochim Biophys Acta Mol Basis Dis 2020 Dec 1;1866(12):165918. Epub 2020 Aug 12 doi: 10.1016/j.bbadis.2020.165918. PMID: 32800941

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