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DNA Single Strand Break

MedGen UID:
307403
•Concept ID:
C1511698
•
Cell or Molecular Dysfunction
Synonyms: Break, Single-Strand DNA; Break, Single-Stranded DNA; Breaks, Single-Strand DNA; Breaks, Single-Stranded DNA; DNA Break, Single-Strand; DNA Break, Single-Stranded; DNA Breaks, Single Stranded; DNA Breaks, Single-Strand; DNA Breaks, Single-Stranded; DNA Nick; DNA Nicks; Nick, DNA; Nicks, DNA; Single Strand DNA Breaks; Single Stranded DNA Break; Single Stranded DNA Breaks; Single-Strand DNA Break; Single-Strand DNA Breaks; Single-Stranded DNA Break; Single-Stranded DNA Breaks

Definition

A DNA Single Strand Break involves one or more disruptions of the covalent linkages among phosphodeoxyribose moieties within the sugar-phosphate backbone in one strand of a DNA molecule. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDNA Single Strand Break

Professional guidelines

PubMed

Combining inhibition of immune checkpoints and PARP: rationale and perspectives in cancer treatment.
Catalano M, Francesco Iannone L, Cosso F, Generali D, Mini E, Roviello G
Expert Opin Ther Targets 2022 Nov;26(11):923-936. Epub 2022 Dec 22 doi: 10.1080/14728222.2022.2158813. PMID: 36519314
Soft tissue sarcomas: new opportunity of treatment with PARP inhibitors?
Mangoni M, Sottili M, Salvatore G, Campanacci D, Scoccianti G, Beltrami G, Delli Paoli C, Dominici L, Maragna V, Olmetto E, Meattini I, Desideri I, Bonomo P, Greto D, Livi L
Radiol Med 2019 Apr;124(4):282-289. Epub 2018 Mar 26 doi: 10.1007/s11547-018-0877-4. PMID: 29582320
The emerging role of poly(ADP-Ribose) polymerase inhibitors in cancer treatment.
Sandhu SK, Yap TA, de Bono JS
Curr Drug Targets 2011 Dec;12(14):2034-44. doi: 10.2174/138945011798829438. PMID: 21777194

Recent clinical studies

Etiology

Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delay.
Thuresson AC, Brazina J, Akram T, Albrecht J, Dahl N, Soussi Zander C, Caldecott KW
Mol Genet Genomic Med 2024 Jan;12(1):e2295. Epub 2023 Nov 2 doi: 10.1002/mgg3.2295. PMID: 37916443Free PMC Article
Adverse (geno)toxic effects of bisphenol A and its analogues in hepatic 3D cell model.
Sendra M, Štampar M, Fras K, Novoa B, Figueras A, Žegura B
Environ Int 2023 Jan;171:107721. Epub 2022 Dec 24 doi: 10.1016/j.envint.2022.107721. PMID: 36580735Free PMC Article
Soft tissue sarcomas: new opportunity of treatment with PARP inhibitors?
Mangoni M, Sottili M, Salvatore G, Campanacci D, Scoccianti G, Beltrami G, Delli Paoli C, Dominici L, Maragna V, Olmetto E, Meattini I, Desideri I, Bonomo P, Greto D, Livi L
Radiol Med 2019 Apr;124(4):282-289. Epub 2018 Mar 26 doi: 10.1007/s11547-018-0877-4. PMID: 29582320
XRCC1 gene polymorphisms and risk of neuroblastoma in Chinese children.
Zhang J, Zhuo Z, Li W, Zhu J, He J, Su J
Aging (Albany NY) 2018 Oct 25;10(10):2944-2953. doi: 10.18632/aging.101601. PMID: 30362960Free PMC Article
Coordination of DNA single strand break repair.
Abbotts R, Wilson DM 3rd
Free Radic Biol Med 2017 Jun;107:228-244. Epub 2016 Nov 24 doi: 10.1016/j.freeradbiomed.2016.11.039. PMID: 27890643Free PMC Article

Diagnosis

Dispensability of HPF1 for cellular removal of DNA single-strand breaks.
Hrychova K, Burdova K, Polackova Z, Giamaki D, Valtorta B, Brazina J, Krejcikova K, Kuttichova B, Caldecott KW, Hanzlikova H
Nucleic Acids Res 2024 Oct 14;52(18):10986-10998. doi: 10.1093/nar/gkae708. PMID: 39162207Free PMC Article
PARG-deficient tumor cells have an increased dependence on EXO1/FEN1-mediated DNA repair.
Andronikou C, Burdova K, Dibitetto D, Lieftink C, Malzer E, Kuiken HJ, Gogola E, Ray Chaudhuri A, Beijersbergen RL, Hanzlikova H, Jonkers J, Rottenberg S
EMBO J 2024 Mar;43(6):1015-1042. Epub 2024 Feb 15 doi: 10.1038/s44318-024-00043-2. PMID: 38360994Free PMC Article
APTX acts in DNA double-strand break repair in a manner distinct from XRCC4.
Imamura R, Saito M, Shimada M, Kobayashi J, Ishiai M, Matsumoto Y
J Radiat Res 2023 May 25;64(3):485-495. doi: 10.1093/jrr/rrad007. PMID: 36940705Free PMC Article
Poly(ADP-ribose) polymerase inhibition as a model for synthetic lethality in developing radiation oncology targets.
Chalmers AJ, Lakshman M, Chan N, Bristow RG
Semin Radiat Oncol 2010 Oct;20(4):274-81. doi: 10.1016/j.semradonc.2010.06.001. PMID: 20832020
Sensing and repairing DNA double-strand breaks.
Jackson SP
Carcinogenesis 2002 May;23(5):687-96. doi: 10.1093/carcin/23.5.687. PMID: 12016139

Therapy

PARG-deficient tumor cells have an increased dependence on EXO1/FEN1-mediated DNA repair.
Andronikou C, Burdova K, Dibitetto D, Lieftink C, Malzer E, Kuiken HJ, Gogola E, Ray Chaudhuri A, Beijersbergen RL, Hanzlikova H, Jonkers J, Rottenberg S
EMBO J 2024 Mar;43(6):1015-1042. Epub 2024 Feb 15 doi: 10.1038/s44318-024-00043-2. PMID: 38360994Free PMC Article
Evolution of the Development of PARP Inhibitors.
Plummer R
Cancer Treat Res 2023;186:1-11. doi: 10.1007/978-3-031-30065-3_1. PMID: 37978127
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
The role of single strand break repair pathways in cellular responses to camptothecin induced DNA damage.
Mei C, Lei L, Tan LM, Xu XJ, He BM, Luo C, Yin JY, Li X, Zhang W, Zhou HH, Liu ZQ
Biomed Pharmacother 2020 May;125:109875. Epub 2020 Feb 6 doi: 10.1016/j.biopha.2020.109875. PMID: 32036211
Soft tissue sarcomas: new opportunity of treatment with PARP inhibitors?
Mangoni M, Sottili M, Salvatore G, Campanacci D, Scoccianti G, Beltrami G, Delli Paoli C, Dominici L, Maragna V, Olmetto E, Meattini I, Desideri I, Bonomo P, Greto D, Livi L
Radiol Med 2019 Apr;124(4):282-289. Epub 2018 Mar 26 doi: 10.1007/s11547-018-0877-4. PMID: 29582320

Prognosis

Combining inhibition of immune checkpoints and PARP: rationale and perspectives in cancer treatment.
Catalano M, Francesco Iannone L, Cosso F, Generali D, Mini E, Roviello G
Expert Opin Ther Targets 2022 Nov;26(11):923-936. Epub 2022 Dec 22 doi: 10.1080/14728222.2022.2158813. PMID: 36519314
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
DNA polymerase θ (POLQ) is important for repair of DNA double-strand breaks caused by fork collapse.
Wang Z, Song Y, Li S, Kurian S, Xiang R, Chiba T, Wu X
J Biol Chem 2019 Mar 15;294(11):3909-3919. Epub 2019 Jan 17 doi: 10.1074/jbc.RA118.005188. PMID: 30655289Free PMC Article
What Combined Measurements From Structures and Imaging Tell Us About DNA Damage Responses.
Brosey CA, Ahmed Z, Lees-Miller SP, Tainer JA
Methods Enzymol 2017;592:417-455. Epub 2017 May 29 doi: 10.1016/bs.mie.2017.04.005. PMID: 28668129Free PMC Article
Next generation topoisomerase I inhibitors: Rationale and biomarker strategies.
Teicher BA
Biochem Pharmacol 2008 Mar 15;75(6):1262-71. Epub 2007 Oct 22 doi: 10.1016/j.bcp.2007.10.016. PMID: 18061144

Clinical prediction guides

Combining inhibition of immune checkpoints and PARP: rationale and perspectives in cancer treatment.
Catalano M, Francesco Iannone L, Cosso F, Generali D, Mini E, Roviello G
Expert Opin Ther Targets 2022 Nov;26(11):923-936. Epub 2022 Dec 22 doi: 10.1080/14728222.2022.2158813. PMID: 36519314
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
What Combined Measurements From Structures and Imaging Tell Us About DNA Damage Responses.
Brosey CA, Ahmed Z, Lees-Miller SP, Tainer JA
Methods Enzymol 2017;592:417-455. Epub 2017 May 29 doi: 10.1016/bs.mie.2017.04.005. PMID: 28668129Free PMC Article
DNA single-strand break repair is impaired in aprataxin-related ataxia.
Hirano M, Yamamoto A, Mori T, Lan L, Iwamoto TA, Aoki M, Shimada K, Furiya Y, Kariya S, Asai H, Yasui A, Nishiwaki T, Imoto K, Kobayashi N, Kiriyama T, Nagata T, Konishi N, Itoyama Y, Ueno S
Ann Neurol 2007 Feb;61(2):162-74. doi: 10.1002/ana.21078. PMID: 17315206
Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1.
El-Khamisy SF, Saifi GM, Weinfeld M, Johansson F, Helleday T, Lupski JR, Caldecott KW
Nature 2005 Mar 3;434(7029):108-13. doi: 10.1038/nature03314. PMID: 15744309

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