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DNA Damage Response Deficiency

MedGen UID:
884791
•Concept ID:
C4050123
•
Cell or Molecular Dysfunction
Synonyms: Deficient DNA Damage Response; DNA Damage Repair Deficiency; DNA Damage Response and Repair Deficiency

Definition

A decrease in the ability of cells to respond to damaged DNA and to repair the damage. This DNA repair deficiency can be caused by mutations in the genes involved in the DNA damage response and/or DNA repair. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDNA Damage Response Deficiency

Professional guidelines

PubMed

Colon Cancer, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.
Benson AB, Venook AP, Al-Hawary MM, Arain MA, Chen YJ, Ciombor KK, Cohen S, Cooper HS, Deming D, Farkas L, Garrido-Laguna I, Grem JL, Gunn A, Hecht JR, Hoffe S, Hubbard J, Hunt S, Johung KL, Kirilcuk N, Krishnamurthi S, Messersmith WA, Meyerhardt J, Miller ED, Mulcahy MF, Nurkin S, Overman MJ, Parikh A, Patel H, Pedersen K, Saltz L, Schneider C, Shibata D, Skibber JM, Sofocleous CT, Stoffel EM, Stotsky-Himelfarb E, Willett CG, Gregory KM, Gurski LA
J Natl Compr Canc Netw 2021 Mar 2;19(3):329-359. doi: 10.6004/jnccn.2021.0012. PMID: 33724754
Diagnosis and Treatment of Metastatic Colorectal Cancer: A Review.
Biller LH, Schrag D
JAMA 2021 Feb 16;325(7):669-685. doi: 10.1001/jama.2021.0106. PMID: 33591350
PARP and PARG inhibitors in cancer treatment.
Slade D
Genes Dev 2020 Mar 1;34(5-6):360-394. Epub 2020 Feb 6 doi: 10.1101/gad.334516.119. PMID: 32029455Free PMC Article

Recent clinical studies

Etiology

Mutational landscape of DNA damage response deficiency-related genes and its association with immune biomarkers in esophageal squamous cell carcinoma.
Chen G, Zhu YJ, Chen J, Miao F, Wu N, Song Y, Mao BB, Wang SZ, Xu F, Chen ZM
Neoplasma 2022 Dec;69(6):1314-1321. Epub 2022 Oct 20 doi: 10.4149/neo_2022_220721N738. PMID: 36264776

Diagnosis

Characterization of the signal transduction cascade for inflammatory gene expression in fibroblasts with ATM-ATR deficiencies after Ionizing radiation.
Haruna S, Okuda K, Shibata A, Isono M, Tateno K, Sato H, Oike T, Uchihara Y, Kato Y, Shibata A
Radiother Oncol 2024 May;194:110198. Epub 2024 Mar 2 doi: 10.1016/j.radonc.2024.110198. PMID: 38438016

Therapy

Targeting DNA Damage Response Deficiency in Thoracic Cancers.
Bzura A, Spicer JB, Dulloo S, Yap TA, Fennell DA
Drugs 2024 Sep;84(9):1025-1033. Epub 2024 Jul 13 doi: 10.1007/s40265-024-02066-9. PMID: 39001941

Prognosis

Deep learning model accurately classifies metastatic tumors from primary tumors based on mutational signatures.
Zheng W, Pu M, Li X, Du Z, Jin S, Li X, Zhou J, Zhang Y
Sci Rep 2023 May 30;13(1):8752. doi: 10.1038/s41598-023-35842-w. PMID: 37253775Free PMC Article

Clinical prediction guides

Deep learning model accurately classifies metastatic tumors from primary tumors based on mutational signatures.
Zheng W, Pu M, Li X, Du Z, Jin S, Li X, Zhou J, Zhang Y
Sci Rep 2023 May 30;13(1):8752. doi: 10.1038/s41598-023-35842-w. PMID: 37253775Free PMC Article

Supplemental Content

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    Practice guidelines

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      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.

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    • PMC Articles
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