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Deficiency of DNA repair

MedGen UID:: 82774
•Concept ID:: C0268134
•: Pathologic Function

Synonyms:	Deficient DNA Repair; Deficient DNA Repairs; DNA Repair Deficiency; DNA Repair, Deficient; DNA Repair-Deficiencies; DNA Repair-Deficiency; DNA Repairs, Deficient; Repair, Deficient DNA; Repairs, Deficient DNA
SNOMED CT:	Deficiency of deoxyribonucleic acid repair (28965003); Deficiency of DNA repair (28965003)

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVDeficiency of DNA repair

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Hereditary disease
      - Deficiency of DNA repair
        Ataxia-telangiectasia syndrome
        Fanconi anemia
        Fanconi anemia complementation group A
        Fanconi anemia, Estren-Dameshek variant
        Fanconi anemia complementation group B
        Fanconi anemia complementation group C
        Fanconi anemia complementation group D1
        Fanconi anemia complementation group D2
        Fanconi anemia complementation group E
        Fanconi anemia complementation group F
        Fanconi anemia complementation group G
        Fanconi anemia complementation group I
        Fanconi anemia complementation group J
        Fanconi anemia complementation group L
        Fanconi anemia complementation group N
        Fanconi anemia complementation group O
        Fanconi anemia complementation group P
        Fanconi anemia, complementation group M
        Short Limb Dwarfism-Saddle Nose-Spinal Alterations-Metaphyseal Striation Syndrome
        Lynch syndrome
        Colorectal cancer, hereditary nonpolyposis, type 2
        Muir-Torré syndrome
        Lynch syndrome 1
        Microcephaly, normal intelligence and immunodeficiency
        Nijmegen breakage syndrome-like disorder
        Warsaw breakage syndrome
        Werner syndrome
        Xeroderma pigmentosum
        ERCC1-Related Xeroderma Pigmentosum
        Xeroderma pigmentosum group A
        Xeroderma pigmentosum group B
        Cockayne syndrome type 3
        Xeroderma pigmentosum variant type
        Xeroderma pigmentosum, group C
        Xeroderma pigmentosum, group D
        Xeroderma pigmentosum, group E
        Xeroderma pigmentosum, group F
        Xeroderma pigmentosum, group G

Professional guidelines

PubMed

Differential expression of DNA repair genes and treatment outcome of chemoradiotherapy (CRT) in cervical cancer.

Kushwah AS, Srivastava K, Banerjee M
Gene 2023 Jun 5;868:147389. Epub 2023 Mar 22 doi: 10.1016/j.gene.2023.147389. PMID: 36963733

Report From the International Society of Urological Pathology (ISUP) Consultation Conference on Molecular Pathology of Urogenital Cancers. I. Molecular Biomarkers in Prostate Cancer.

Lotan TL, Tomlins SA, Bismar TA, Van der Kwast TH, Grignon D, Egevad L, Kristiansen G, Pritchard CC, Rubin MA, Bubendorf L
Am J Surg Pathol 2020 Jul;44(7):e15-e29. doi: 10.1097/PAS.0000000000001450. PMID: 32044806

Biomarkers of DNA Repair and Related Pathways: Significance of Treatment in Triple-Negative Breast Cancer.

Guo W, Lin L, He X, He F, Wang C, Chen N, Wang Y
Crit Rev Oncog 2017;22(5-6):427-437. doi: 10.1615/CritRevOncog.2017020575. PMID: 29604922

See all (4)

Recent clinical studies

Etiology

Differential expression of DNA repair genes and treatment outcome of chemoradiotherapy (CRT) in cervical cancer.

Kushwah AS, Srivastava K, Banerjee M
Gene 2023 Jun 5;868:147389. Epub 2023 Mar 22 doi: 10.1016/j.gene.2023.147389. PMID: 36963733

Functional deficiency of DNA repair gene EXO5 results in androgen-induced genomic instability and prostate tumorigenesis.

Ali S, Zhang Y, Zhou M, Li H, Jin W, Zheng L, Yu X, Stark JM, Weitzel JN, Shen B
Oncogene 2020 Feb;39(6):1246-1259. Epub 2019 Oct 15 doi: 10.1038/s41388-019-1061-6. PMID: 31616062 Free PMC Article

Interaction of DNA repair gene polymorphisms and aflatoxin B1 in the risk of hepatocellular carcinoma.

Yao JG, Huang XY, Long XD
Int J Clin Exp Pathol 2014;7(9):6231-44. Epub 2014 Aug 15 PMID: 25337275 Free PMC Article

Partial deficiency of DNA-PKcs increases ionizing radiation-induced mutagenesis and telomere instability in human cells.

Zhang Y, Zhou J, Cao X, Zhang Q, Lim CU, Ullrich RL, Bailey SM, Liber HL
Cancer Lett 2007 May 18;250(1):63-73. Epub 2006 Nov 13 doi: 10.1016/j.canlet.2006.09.021. PMID: 17095151

Assessment of human DNA repair (NER) capacity with DNA repair rate (DRR) by comet assay.

Zheng W, He JL, Jin LF, Lou JL, Wang BH
Biomed Environ Sci 2005 Apr;18(2):117-23. PMID: 16001831

See all (9)

Diagnosis

Differential expression of DNA repair genes and treatment outcome of chemoradiotherapy (CRT) in cervical cancer.

Kushwah AS, Srivastava K, Banerjee M
Gene 2023 Jun 5;868:147389. Epub 2023 Mar 22 doi: 10.1016/j.gene.2023.147389. PMID: 36963733

Molecular tests for prediction of tumor sensitivity to cytotoxic drugs.

Imyanitov EN, Iyevleva AG
Cancer Lett 2022 Feb 1;526:41-52. Epub 2021 Nov 20 doi: 10.1016/j.canlet.2021.11.021. PMID: 34808283

Functional deficiency of DNA repair gene EXO5 results in androgen-induced genomic instability and prostate tumorigenesis.

Ali S, Zhang Y, Zhou M, Li H, Jin W, Zheng L, Yu X, Stark JM, Weitzel JN, Shen B
Oncogene 2020 Feb;39(6):1246-1259. Epub 2019 Oct 15 doi: 10.1038/s41388-019-1061-6. PMID: 31616062 Free PMC Article

Assessment of human DNA repair (NER) capacity with DNA repair rate (DRR) by comet assay.

Zheng W, He JL, Jin LF, Lou JL, Wang BH
Biomed Environ Sci 2005 Apr;18(2):117-23. PMID: 16001831

PIBI(D)S: clinical and molecular characterization of a new case.

Fortina AB, Alaibac M, Piaserico S, Peserico A
J Eur Acad Dermatol Venereol 2001 Jan;15(1):65-9. doi: 10.1046/j.1468-3083.2001.00212.x. PMID: 11451329

See all (9)

Therapy

Recent advances in cancer therapy using PARP inhibitors.

Kaur SD, Chellappan DK, Aljabali AA, Tambuwala M, Dua K, Kapoor DN
Med Oncol 2022 Sep 30;39(12):241. doi: 10.1007/s12032-022-01840-7. PMID: 36180646

Molecular tests for prediction of tumor sensitivity to cytotoxic drugs.

Imyanitov EN, Iyevleva AG
Cancer Lett 2022 Feb 1;526:41-52. Epub 2021 Nov 20 doi: 10.1016/j.canlet.2021.11.021. PMID: 34808283

Cancer Therapy Guided by Mutation Tests: Current Status and Perspectives.

Aleksakhina SN, Imyanitov EN
Int J Mol Sci 2021 Oct 10;22(20) doi: 10.3390/ijms222010931. PMID: 34681592 Free PMC Article

Functional deficiency of DNA repair gene EXO5 results in androgen-induced genomic instability and prostate tumorigenesis.

Ali S, Zhang Y, Zhou M, Li H, Jin W, Zheng L, Yu X, Stark JM, Weitzel JN, Shen B
Oncogene 2020 Feb;39(6):1246-1259. Epub 2019 Oct 15 doi: 10.1038/s41388-019-1061-6. PMID: 31616062 Free PMC Article

Assessment of human DNA repair (NER) capacity with DNA repair rate (DRR) by comet assay.

Zheng W, He JL, Jin LF, Lou JL, Wang BH
Biomed Environ Sci 2005 Apr;18(2):117-23. PMID: 16001831

See all (8)

Prognosis

Differential expression of DNA repair genes and treatment outcome of chemoradiotherapy (CRT) in cervical cancer.

Kushwah AS, Srivastava K, Banerjee M
Gene 2023 Jun 5;868:147389. Epub 2023 Mar 22 doi: 10.1016/j.gene.2023.147389. PMID: 36963733

Molecular tests for prediction of tumor sensitivity to cytotoxic drugs.

Imyanitov EN, Iyevleva AG
Cancer Lett 2022 Feb 1;526:41-52. Epub 2021 Nov 20 doi: 10.1016/j.canlet.2021.11.021. PMID: 34808283

Cancer Therapy Guided by Mutation Tests: Current Status and Perspectives.

Aleksakhina SN, Imyanitov EN
Int J Mol Sci 2021 Oct 10;22(20) doi: 10.3390/ijms222010931. PMID: 34681592 Free PMC Article

Time for remodeling: SNF2-family DNA translocases in replication fork metabolism and human disease.

Joseph SA, Taglialatela A, Leuzzi G, Huang JW, Cuella-Martin R, Ciccia A
DNA Repair (Amst) 2020 Nov;95:102943. Epub 2020 Aug 15 doi: 10.1016/j.dnarep.2020.102943. PMID: 32971328 Free PMC Article

Functional deficiency of DNA repair gene EXO5 results in androgen-induced genomic instability and prostate tumorigenesis.

Ali S, Zhang Y, Zhou M, Li H, Jin W, Zheng L, Yu X, Stark JM, Weitzel JN, Shen B
Oncogene 2020 Feb;39(6):1246-1259. Epub 2019 Oct 15 doi: 10.1038/s41388-019-1061-6. PMID: 31616062 Free PMC Article

See all (8)

Clinical prediction guides

Molecular tests for prediction of tumor sensitivity to cytotoxic drugs.

Imyanitov EN, Iyevleva AG
Cancer Lett 2022 Feb 1;526:41-52. Epub 2021 Nov 20 doi: 10.1016/j.canlet.2021.11.021. PMID: 34808283

Cancer Therapy Guided by Mutation Tests: Current Status and Perspectives.

Aleksakhina SN, Imyanitov EN
Int J Mol Sci 2021 Oct 10;22(20) doi: 10.3390/ijms222010931. PMID: 34681592 Free PMC Article

Interaction of DNA repair gene polymorphisms and aflatoxin B1 in the risk of hepatocellular carcinoma.

Yao JG, Huang XY, Long XD
Int J Clin Exp Pathol 2014;7(9):6231-44. Epub 2014 Aug 15 PMID: 25337275 Free PMC Article

Partial deficiency of DNA-PKcs increases ionizing radiation-induced mutagenesis and telomere instability in human cells.

Zhang Y, Zhou J, Cao X, Zhang Q, Lim CU, Ullrich RL, Bailey SM, Liber HL
Cancer Lett 2007 May 18;250(1):63-73. Epub 2006 Nov 13 doi: 10.1016/j.canlet.2006.09.021. PMID: 17095151

There is substantial agreement among interspecies estimates of DNA repair activity.

Cortopassi GA, Wang E
Mech Ageing Dev 1996 Nov 13;91(3):211-8. doi: 10.1016/s0047-6374(96)01788-5. PMID: 9055244

See all (9)

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Deficiency of DNA repair

Term Hierarchy

Professional guidelines

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Recent clinical studies

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Diagnosis

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