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DNA repair disease

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)
 
Monarch Initiative: MONDO:0021190

Definition

A disease that has its basis in the disruption of DNA repair. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDNA repair disease

Professional guidelines

PubMed

Pancreatic cancer: optimizing treatment options, new, and emerging targeted therapies.
Chiorean EG, Coveler AL
Drug Des Devel Ther 2015;9:3529-45. Epub 2015 Jul 7 doi: 10.2147/DDDT.S60328. PMID: 26185420Free PMC Article

Recent clinical studies

Etiology

Inflammatory landscape in Xeroderma pigmentosum patients with cutaneous melanoma.
Chikhaoui A, Jones M, Režen T, Ben Ahmed M, Naouali C, Komel R, Zghal M, Boubaker S, Abdelhak S, Yacoub-Youssef H
Sci Rep 2022 Aug 16;12(1):13854. doi: 10.1038/s41598-022-17928-z. PMID: 35974070Free PMC Article
Reproductive Health in Xeroderma Pigmentosum: Features of Premature Aging.
Merideth M, Tamura D, Angra D, Khan SG, Ferrell J, Goldstein AM, DiGiovanna JJ, Kraemer KH
Obstet Gynecol 2019 Oct;134(4):814-819. doi: 10.1097/AOG.0000000000003490. PMID: 31503159Free PMC Article
Fanconi anemia patients are more susceptible to infection with tumor virus SV40.
Comar M, De Rocco D, Cappelli E, Zanotta N, Bottega R, Svahn J, Farruggia P, Misuraca A, Corsolini F, Dufour C, Savoia A
PLoS One 2013;8(11):e79683. Epub 2013 Nov 18 doi: 10.1371/journal.pone.0079683. PMID: 24260277Free PMC Article
The fanconi anemia core complex acts as a transcriptional co-regulator in hairy enhancer of split 1 signaling.
Tremblay CS, Huard CC, Huang FF, Habi O, Bourdages V, Lévesque G, Carreau M
J Biol Chem 2009 May 15;284(20):13384-13395. Epub 2009 Mar 25 doi: 10.1074/jbc.M807921200. PMID: 19321451Free PMC Article

Diagnosis

Lack of XPC leads to a shift between respiratory complexes I and II but sensitizes cells to mitochondrial stress.
Mori MP, Costa RA, Soltys DT, Freire TS, Rossato FA, Amigo I, Kowaltowski AJ, Vercesi AE, de Souza-Pinto NC
Sci Rep 2017 Mar 13;7(1):155. doi: 10.1038/s41598-017-00130-x. PMID: 28273955Free PMC Article

Therapy

Reproductive Health in Xeroderma Pigmentosum: Features of Premature Aging.
Merideth M, Tamura D, Angra D, Khan SG, Ferrell J, Goldstein AM, DiGiovanna JJ, Kraemer KH
Obstet Gynecol 2019 Oct;134(4):814-819. doi: 10.1097/AOG.0000000000003490. PMID: 31503159Free PMC Article

Prognosis

Inflammatory landscape in Xeroderma pigmentosum patients with cutaneous melanoma.
Chikhaoui A, Jones M, Režen T, Ben Ahmed M, Naouali C, Komel R, Zghal M, Boubaker S, Abdelhak S, Yacoub-Youssef H
Sci Rep 2022 Aug 16;12(1):13854. doi: 10.1038/s41598-022-17928-z. PMID: 35974070Free PMC Article

Clinical prediction guides

Inflammatory landscape in Xeroderma pigmentosum patients with cutaneous melanoma.
Chikhaoui A, Jones M, Režen T, Ben Ahmed M, Naouali C, Komel R, Zghal M, Boubaker S, Abdelhak S, Yacoub-Youssef H
Sci Rep 2022 Aug 16;12(1):13854. doi: 10.1038/s41598-022-17928-z. PMID: 35974070Free PMC Article
Purine DNA Lesions at Different Oxygen Concentration in DNA Repair-Impaired Human Cells (EUE-siXPA).
Krokidis MG, Parlanti E, D'Errico M, Pascucci B, Pino A, Alimonti A, Pietraforte D, Masi A, Ferreri C, Chatgilialoglu C
Cells 2019 Nov 1;8(11) doi: 10.3390/cells8111377. PMID: 31683970Free PMC Article
Lack of XPC leads to a shift between respiratory complexes I and II but sensitizes cells to mitochondrial stress.
Mori MP, Costa RA, Soltys DT, Freire TS, Rossato FA, Amigo I, Kowaltowski AJ, Vercesi AE, de Souza-Pinto NC
Sci Rep 2017 Mar 13;7(1):155. doi: 10.1038/s41598-017-00130-x. PMID: 28273955Free PMC Article

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