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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

Pathological mutations in PNKP trigger defects in DNA single-strand break repair but not DNA double-strand break repair.
Kalasova I, Hailstone R, Bublitz J, Bogantes J, Hofmann W, Leal A, Hanzlikova H, Caldecott KW
Nucleic Acids Res 2020 Jul 9;48(12):6672-6684. doi: 10.1093/nar/gkaa489. PMID: 32504494Free 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 mutation is associated with PARP1 hyperactivation and cerebellar ataxia.
Hoch NC, Hanzlikova H, Rulten SL, Tétreault M, Komulainen E, Ju L, Hornyak P, Zeng Z, Gittens W, Rey SA, Staras K, Mancini GM, McKinnon PJ, Wang ZQ, Wagner JD; Care4Rare Canada Consortium, Yoon G, Caldecott KW
Nature 2017 Jan 5;541(7635):87-91. Epub 2016 Dec 21 doi: 10.1038/nature20790. PMID: 28002403Free 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
Concerted action of Nrf2-ARE pathway, MRN complex, HMGB1 and inflammatory cytokines - implication in modification of radiation damage.
Anuranjani, Bala M
Redox Biol 2014;2:832-46. Epub 2014 Feb 28 doi: 10.1016/j.redox.2014.02.008. PMID: 25009785Free PMC Article

Diagnosis

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
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
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
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
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

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
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

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
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
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

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