U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

DNA Double Strand Break

MedGen UID:
267994
•Concept ID:
C1511667
•
Cell or Molecular Dysfunction
Synonyms: Break, Double-Strand DNA; Break, Double-Stranded DNA; Breaks, Double-Strand DNA; Breaks, Double-Stranded DNA; DNA Break, Double-Strand; DNA Break, Double-Stranded; DNA Breaks, Double Stranded; DNA Breaks, Double-Strand; DNA Breaks, Double-Stranded; Double Strand DNA Breaks; Double Stranded DNA Break; Double Stranded DNA Breaks; Double-Strand DNA Break; Double-Strand DNA Breaks; Double-Stranded DNA Break; Double-Stranded DNA Breaks

Definition

A DNA Double Strand Break involves a disruption of the covalent linkages among the phosphodeoxyribose moieties within the sugar-phosphate backbone in both strands of a DNA molecule. [from NCI]

Term Hierarchy

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

Professional guidelines

PubMed

Sex steroid hormones and DNA repair regulation: Implications on cancer treatment responses.
Rangsrikitphoti P, Marquez-Garban DC, Pietras RJ, McGowan E, Boonyaratanakornkit V
J Steroid Biochem Mol Biol 2023 Mar;227:106230. Epub 2022 Nov 28 doi: 10.1016/j.jsbmb.2022.106230. PMID: 36450315
Management of hereditary breast and ovarian cancer.
Yamauchi H, Takei J
Int J Clin Oncol 2018 Feb;23(1):45-51. Epub 2017 Nov 28 doi: 10.1007/s10147-017-1208-9. PMID: 29185095
Characterization, Detection, and Treatment Approaches for Homologous Recombination Deficiency in Cancer.
O'Kane GM, Connor AA, Gallinger S
Trends Mol Med 2017 Dec;23(12):1121-1137. Epub 2017 Nov 10 doi: 10.1016/j.molmed.2017.10.007. PMID: 29133135

Recent clinical studies

Etiology

BRCA Mutations and Fertility Preservation.
Dias Nunes J, Demeestere I, Devos M
Int J Mol Sci 2023 Dec 22;25(1) doi: 10.3390/ijms25010204. PMID: 38203374Free PMC Article
Suppression of DNA Polymerase β Activity Is Synthetically Lethal in BRCA1-Deficient Cells.
Yuhas SC, Mishra A, DeWeese TL, Greenberg MM
ACS Chem Biol 2021 Aug 20;16(8):1339-1343. Epub 2021 Jul 9 doi: 10.1021/acschembio.1c00385. PMID: 34240844Free PMC Article
Regulation of chromatin structure and function: insights into the histone chaperone FACT.
Wang P, Yang W, Zhao S, Nashun B
Cell Cycle 2021 Mar-Mar;20(5-6):465-479. Epub 2021 Feb 16 doi: 10.1080/15384101.2021.1881726. PMID: 33590780Free PMC Article
Long noncoding RNA: A resident staff of genomic instability regulation in tumorigenesis.
Guo F, Li L, Yang W, Hu JF, Cui J
Cancer Lett 2021 Apr 10;503:103-109. Epub 2021 Jan 28 doi: 10.1016/j.canlet.2021.01.021. PMID: 33516792
Analyzing Homologous Recombination at a Genome-Wide Level.
Arnould C, Rocher V, Legube G
Methods Mol Biol 2021;2153:427-438. doi: 10.1007/978-1-0716-0644-5_29. PMID: 32840796

Diagnosis

BRCA Mutations and Fertility Preservation.
Dias Nunes J, Demeestere I, Devos M
Int J Mol Sci 2023 Dec 22;25(1) doi: 10.3390/ijms25010204. PMID: 38203374Free PMC Article
Multi-omics analysis reveals distinct non-reversion mechanisms of PARPi resistance in BRCA1- versus BRCA2-deficient mammary tumors.
Bhin J, Paes Dias M, Gogola E, Rolfs F, Piersma SR, de Bruijn R, de Ruiter JR, van den Broek B, Duarte AA, Sol W, van der Heijden I, Andronikou C, Kaiponen TS, Bakker L, Lieftink C, Morris B, Beijersbergen RL, van de Ven M, Jimenez CR, Wessels LFA, Rottenberg S, Jonkers J
Cell Rep 2023 May 30;42(5):112538. Epub 2023 May 19 doi: 10.1016/j.celrep.2023.112538. PMID: 37209095Free PMC Article
Loss of MEN1 function impairs DNA repair capability of pancreatic neuroendocrine tumors.
Lakiza O, Lutze J, Vogle A, Williams J, Abukdheir A, Miller P, Liao C', Pitroda SP, Martinez C, Olivas A, Setia N, Kron SJ, Weichselbaum RR, Keutgen XM
Endocr Relat Cancer 2022 Mar 21;29(4):225-239. doi: 10.1530/ERC-21-0247. PMID: 35171113Free PMC Article
The molecular basis and disease relevance of non-homologous DNA end joining.
Zhao B, Rothenberg E, Ramsden DA, Lieber MR
Nat Rev Mol Cell Biol 2020 Dec;21(12):765-781. Epub 2020 Oct 19 doi: 10.1038/s41580-020-00297-8. PMID: 33077885Free PMC Article
Next generation sequencing-based gene panel tests for the management of solid tumors.
Nagahashi M, Shimada Y, Ichikawa H, Kameyama H, Takabe K, Okuda S, Wakai T
Cancer Sci 2019 Jan;110(1):6-15. Epub 2018 Nov 27 doi: 10.1111/cas.13837. PMID: 30338623Free PMC Article

Therapy

Multi-omics analysis reveals distinct non-reversion mechanisms of PARPi resistance in BRCA1- versus BRCA2-deficient mammary tumors.
Bhin J, Paes Dias M, Gogola E, Rolfs F, Piersma SR, de Bruijn R, de Ruiter JR, van den Broek B, Duarte AA, Sol W, van der Heijden I, Andronikou C, Kaiponen TS, Bakker L, Lieftink C, Morris B, Beijersbergen RL, van de Ven M, Jimenez CR, Wessels LFA, Rottenberg S, Jonkers J
Cell Rep 2023 May 30;42(5):112538. Epub 2023 May 19 doi: 10.1016/j.celrep.2023.112538. PMID: 37209095Free PMC Article
Loss of MEN1 function impairs DNA repair capability of pancreatic neuroendocrine tumors.
Lakiza O, Lutze J, Vogle A, Williams J, Abukdheir A, Miller P, Liao C', Pitroda SP, Martinez C, Olivas A, Setia N, Kron SJ, Weichselbaum RR, Keutgen XM
Endocr Relat Cancer 2022 Mar 21;29(4):225-239. doi: 10.1530/ERC-21-0247. PMID: 35171113Free PMC Article
Targeting the DNA Repair Enzyme Polymerase θ in Cancer Therapy.
Schrempf A, Slyskova J, Loizou JI
Trends Cancer 2021 Feb;7(2):98-111. Epub 2020 Oct 24 doi: 10.1016/j.trecan.2020.09.007. PMID: 33109489
Targeting UHRF1-dependent DNA repair selectively sensitizes KRAS mutant lung cancer to chemotherapy.
Tian D, Tang J, Geng X, Li Q, Wang F, Zhao H, Narla G, Yao X, Zhang Y
Cancer Lett 2020 Nov 28;493:80-90. Epub 2020 Aug 16 doi: 10.1016/j.canlet.2020.08.008. PMID: 32814087Free PMC Article
Rebuilding Chromosomes After Catastrophe: Emerging Mechanisms of Chromothripsis.
Ly P, Cleveland DW
Trends Cell Biol 2017 Dec;27(12):917-930. Epub 2017 Sep 9 doi: 10.1016/j.tcb.2017.08.005. PMID: 28899600Free PMC Article

Prognosis

MRE11 liberates cGAS from nucleosome sequestration during tumorigenesis.
Cho MG, Kumar RJ, Lin CC, Boyer JA, Shahir JA, Fagan-Solis K, Simpson DA, Fan C, Foster CE, Goddard AM, Lerner LM, Ellington SW, Wang Q, Wang Y, Ho AY, Liu P, Perou CM, Zhang Q, McGinty RK, Purvis JE, Gupta GP
Nature 2024 Jan;625(7995):585-592. Epub 2024 Jan 10 doi: 10.1038/s41586-023-06889-6. PMID: 38200309Free PMC Article
USP44 regulates irradiation-induced DNA double-strand break repair and suppresses tumorigenesis in nasopharyngeal carcinoma.
Chen Y, Zhao Y, Yang X, Ren X, Huang S, Gong S, Tan X, Li J, He S, Li Y, Hong X, Li Q, Ding C, Fang X, Ma J, Liu N
Nat Commun 2022 Jan 25;13(1):501. doi: 10.1038/s41467-022-28158-2. PMID: 35079021Free PMC Article
Targeting the DNA Repair Enzyme Polymerase θ in Cancer Therapy.
Schrempf A, Slyskova J, Loizou JI
Trends Cancer 2021 Feb;7(2):98-111. Epub 2020 Oct 24 doi: 10.1016/j.trecan.2020.09.007. PMID: 33109489
Scarless genome editing: progress towards understanding genotype-phenotype relationships.
Elison GL, Acar M
Curr Genet 2018 Dec;64(6):1229-1238. Epub 2018 Jun 5 doi: 10.1007/s00294-018-0850-8. PMID: 29872908Free PMC Article
Effects of Rad51 on survival of A549 cells.
Yu SS, Tu Y, Xu LL, Tao XQ, Xu S, Wang SS, Xiong YF, Mei JH
Asian Pac J Cancer Prev 2015;16(1):175-9. doi: 10.7314/apjcp.2015.16.1.175. PMID: 25640347

Clinical prediction guides

Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain.
Hu C, Huang H, Na J, Lumby C, Abozaid M, Holdren MA, Rao TJ, Karam R, Pesaran T, Weyandt JD, Csuy CM, Seelaus CA, Young CC, Fulk K, Heidari Z, Morais Lyra PC Jr, Couch RE, Persons B, Polley EC, Gnanaolivu RD, Boddicker NJ, Monteiro ANA, Yadav S, Domchek SM, Richardson ME, Couch FJ
Am J Hum Genet 2024 Mar 7;111(3):584-593. Epub 2024 Feb 27 doi: 10.1016/j.ajhg.2024.02.002. PMID: 38417439Free PMC Article
Scarless genome editing: progress towards understanding genotype-phenotype relationships.
Elison GL, Acar M
Curr Genet 2018 Dec;64(6):1229-1238. Epub 2018 Jun 5 doi: 10.1007/s00294-018-0850-8. PMID: 29872908Free PMC Article
Identification and Functional Characterizations of N-Terminal α-N-Methylation and Phosphorylation of Serine 461 in Human Poly(ADP-ribose) Polymerase 3.
Dai X, Rulten SL, You C, Caldecott KW, Wang Y
J Proteome Res 2015 Jun 5;14(6):2575-82. Epub 2015 Apr 27 doi: 10.1021/acs.jproteome.5b00126. PMID: 25886813Free PMC Article
microRNAs in cancer cell response to ionizing radiation.
Czochor JR, Glazer PM
Antioxid Redox Signal 2014 Jul 10;21(2):293-312. Epub 2014 Feb 4 doi: 10.1089/ars.2013.5718. PMID: 24206455Free PMC Article
An unbiased genome-wide analysis of zinc-finger nuclease specificity.
Gabriel R, Lombardo A, Arens A, Miller JC, Genovese P, Kaeppel C, Nowrouzi A, Bartholomae CC, Wang J, Friedman G, Holmes MC, Gregory PD, Glimm H, Schmidt M, Naldini L, von Kalle C
Nat Biotechnol 2011 Aug 7;29(9):816-23. doi: 10.1038/nbt.1948. PMID: 21822255

Recent systematic reviews

DNA Double-Strand Break Repair Kinetics after Exposure to Photons and Ions: A Systematic Review.
Radstake WE, Parisi A, Denbeigh JM, Furutani KM, Beltran CJ
Radiat Res 2024 Jun 1;201(6):604-616. doi: 10.1667/RADE-23-00190.1. PMID: 38376467
The many faces of Artemis-deficient combined immunodeficiency - Two patients with DCLRE1C mutations and a systematic literature review of genotype-phenotype correlation.
Lee PP, Woodbine L, Gilmour KC, Bibi S, Cale CM, Amrolia PJ, Veys PA, Davies EG, Jeggo PA, Jones A
Clin Immunol 2013 Dec;149(3):464-74. Epub 2013 Aug 27 doi: 10.1016/j.clim.2013.08.006. PMID: 24230999

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...