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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

Liquid‒liquid phase separation: roles and implications in future cancer treatment.
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
Genotype-phenotype associations in Fanconi anemia: A literature review.
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
The hyper IgM syndromes: Epidemiology, pathogenesis, clinical manifestations, diagnosis and management.
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

Cockayne syndrome: Clinical features, model systems and pathways.
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
Congenital Heart Disease: Causes, Diagnosis, Symptoms, and Treatments.
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
Xeroderma pigmentosum.
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
Xeroderma pigmentosum.
Norgauer J, Idzko M, Panther E, Hellstern O, Herouy Y
Eur J Dermatol 2003 Jan-Feb;13(1):4-9. PMID: 12609773
Cancer genetics.
Knudson AG
Am J Med Genet 2002 Jul 22;111(1):96-102. doi: 10.1002/ajmg.10320. PMID: 12124744

Diagnosis

APE1-dependent base excision repair of DNA photodimers in human cells.
Gautam A, Fawcett H, Burdova K, Brazina J, Caldecott KW
Mol Cell 2023 Oct 19;83(20):3669-3678.e7. Epub 2023 Oct 9 doi: 10.1016/j.molcel.2023.09.013. PMID: 37816354
Cockayne syndrome: Clinical features, model systems and pathways.
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
Congenital Heart Disease: Causes, Diagnosis, Symptoms, and Treatments.
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
Xeroderma pigmentosum.
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
Xeroderma pigmentosum.
Norgauer J, Idzko M, Panther E, Hellstern O, Herouy Y
Eur J Dermatol 2003 Jan-Feb;13(1):4-9. PMID: 12609773

Therapy

SEAMARK: phase II study of first-line encorafenib and cetuximab plus pembrolizumab for MSI-H/dMMR BRAFV600E-mutant mCRC.
Elez E, Kopetz S, Tabernero J, Bekaii-Saab T, Taieb J, Yoshino T, Manji G, Fernandez K, Abbattista A, Zhang X, Morris VK
Future Oncol 2024 Apr;20(11):653-663. Epub 2023 Oct 10 doi: 10.2217/fon-2022-1249. PMID: 37815847
p53 immunohistochemistry in endometrial cancer: clinical and molecular correlates in the PORTEC-3 trial.
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
Molecular Classification of the PORTEC-3 Trial for High-Risk Endometrial Cancer: Impact on Prognosis and Benefit From Adjuvant Therapy.
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
ATRX/EZH2 complex epigenetically regulates FADD/PARP1 axis, contributing to TMZ resistance in glioma.
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
Hereditary photodermatoses.
Oh DH, Spivak G
Adv Exp Med Biol 2010;685:95-105. doi: 10.1007/978-1-4419-6448-9_9. PMID: 20687498

Prognosis

p53 immunohistochemistry in endometrial cancer: clinical and molecular correlates in the PORTEC-3 trial.
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
POLE, MMR, and MSI Testing in Endometrial Cancer: Proceedings of the ISGyP Companion Society Session at the USCAP 2020 Annual Meeting.
Casey L, Singh N
Int J Gynecol Pathol 2021 Jan;40(1):5-16. doi: 10.1097/PGP.0000000000000710. PMID: 33290350
The hyper IgM syndromes: Epidemiology, pathogenesis, clinical manifestations, diagnosis and management.
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
Xeroderma Pigmentosum.
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
The Molecular Taxonomy of Primary Prostate Cancer.
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

Epigenomic signature of accelerated ageing in progeroid Cockayne syndrome.
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
Peripheral neuropathies associated with DNA repair disorders.
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
The Role of DNA Repair in Genomic Instability of Multiple Myeloma.
Ali JYH, Fitieh AM, Ismail IH
Int J Mol Sci 2022 May 19;23(10) doi: 10.3390/ijms23105688. PMID: 35628498Free PMC Article
Radiotherapy-Poly(ADP-ribose) Polymerase Inhibitor Combinations: Progress to Date.
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
NAD(+) Metabolism and Diseases with Motor Dysfunction.
Lundt S, Ding S
Genes (Basel) 2021 Nov 9;12(11) doi: 10.3390/genes12111776. PMID: 34828382Free PMC Article

Recent systematic reviews

The concept of folic acid supplementation and its role in prevention of neural tube defect among pregnant women: PRISMA.
Seyoum Tola F
Medicine (Baltimore) 2024 May 10;103(19):e38154. doi: 10.1097/MD.0000000000038154. PMID: 38728462Free PMC Article
Clinicopathological characteristics of multiple-classifier endometrial cancers: a cohort study and systematic review.
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
A systematic review and meta-analysis of long noncoding RNA 00963 expression and prognosis and clinicopathological characteristic in human cancers.
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
Xeroderma Pigmentosum: A Genetic Condition Skin Cancer Correlated-A Systematic Review.
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
Clinical features of ProMisE groups identify different phenotypes of patients with endometrial cancer.
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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