Reactome | Diseases of DNA repair

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Diseases of DNA repair Show undefined attributes

authored	[InstanceEdit:9676828] Orlic-Milacic, Marija, 2020-02-21
created	[InstanceEdit:9675138] Orlic-Milacic, Marija, 2020-01-31
crossReference	[DatabaseIdentifier:12020959] Mondo:0003847
dbId	9675135
disease	[Disease:9663832] genetic disease
displayName	Diseases of DNA repair
edited	[InstanceEdit:9676935] Orlic-Milacic, Marija, 2020-02-24 [InstanceEdit:9707279] Orlic-Milacic, Marija, 2020-11-12
eventOf	[TopLevelPathway:R-HSA-1643685] Disease - Homo sapiens
figure	[Figure:9698293] /figures/ehld/R-HSA-9675135.svg
hasDiagram	true
hasEHLD	true
hasEvent	[Pathway:R-HSA-5423599] Diseases of Mismatch Repair (MMR) - Homo sapiens [Pathway:R-HSA-9605308] Diseases of Base Excision Repair - Homo sapiens [Pathway:R-HSA-9675136] Diseases of DNA Double-Strand Break Repair - Homo sapiens
isInDisease	true
isInferred	false
lastUpdatedDate	2022-12-07
literatureReference	[LiteratureReference:9676741] DNA Damage and Associated DNA Repair Defects in Disease and Premature Aging [LiteratureReference:9676755] DNA mismatch repair in cancer [LiteratureReference:9676756] Clinical Management and Tumor Surveillance Recommendations of Inherited Mismatch Repair Deficiency in Childhood [LiteratureReference:9676757] Review: Clinical aspects of hereditary DNA Mismatch repair gene mutations [LiteratureReference:9676760] Approaches to diagnose DNA mismatch repair gene defects in cancer [LiteratureReference:9616000] Balancing repair and tolerance of DNA damage caused by alkylating agents [LiteratureReference:9616004] Architecture of inherited susceptibility to common cancer [LiteratureReference:9616017] Single nucleotide polymorphisms in DNA glycosylases: From function to disease [LiteratureReference:9616021] Polymorphisms in base excision repair genes: Breast cancer risk and individual radiosensitivity [LiteratureReference:9616030] Base excision repair capacity in informing healthspan [LiteratureReference:9707157] Monogenic Diseases of DNA Repair [LiteratureReference:9707158] DNA double-strand break repair pathway choice - from basic biology to clinical exploitation [LiteratureReference:9707154] DNA strand break repair and human genetic disease [LiteratureReference:9707262] Genetic diversity of tumors with mismatch repair deficiency influences anti-PD-1 immunotherapy response
maxDepth	5
modified	[InstanceEdit:9847082] Weiser, Joel, 2023-10-12
name	Diseases of DNA repair
releaseDate	2020-03-17
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:9676934] D'Eustachio, Peter, 2020-02-24 [InstanceEdit:9707277] D'Eustachio, Peter, 2020-11-11
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-9675135
summation	[Summation:9676742] Germline and somatic defects in genes that encode proteins t...
updateTrackers	[UpdateTracker:9846827] Update Tracker - [Pathway:9675135] Diseases of DNA repair - v83:[updateContainedPathway] [UpdateTracker:9775806] Update Tracker - [Pathway:9675135] Diseases of DNA repair - v78:[updateContainedPathway] [UpdateTracker:9776507] Update Tracker - [Pathway:9675135] Diseases of DNA repair - v75:[addHasEvent, addLiteratureReference, modifyText] [UpdateTracker:9776731] Update Tracker - [Pathway:9675135] Diseases of DNA repair - v74:[modifyText] [UpdateTracker:9774982] Update Tracker - [Pathway:9675135] Diseases of DNA repair - v80:[updateContainedPathway] [UpdateTracker:9776122] Update Tracker - [Pathway:9675135] Diseases of DNA repair - v77:[updateContainedPathway]

Referrals

(updatedInstance)

[UpdateTracker:9846827] Update Tracker - [Pathway:9675135] Diseases of DNA repair - v83:[updateContainedPathway]
[UpdateTracker:9775806] Update Tracker - [Pathway:9675135] Diseases of DNA repair - v78:[updateContainedPathway]
[UpdateTracker:9776507] Update Tracker - [Pathway:9675135] Diseases of DNA repair - v75:[addHasEvent, addLiteratureReference, modifyText]
[UpdateTracker:9776731] Update Tracker - [Pathway:9675135] Diseases of DNA repair - v74:[modifyText]
[UpdateTracker:9774982] Update Tracker - [Pathway:9675135] Diseases of DNA repair - v80:[updateContainedPathway]
[UpdateTracker:9776122] Update Tracker - [Pathway:9675135] Diseases of DNA repair - v77:[updateContainedPathway]

(hasEvent)

[TopLevelPathway:R-HSA-1643685] Disease

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