Reactome | Defective DNA double strand break response due to BARD1 loss of function

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Defective DNA double strand break response due to BARD1 loss of function Show undefined attributes

authored	[InstanceEdit:9702562] Orlic-Milacic, Marija, 2020-09-30
created	[InstanceEdit:9699154] Orlic-Milacic, Marija, 2020-09-11
crossReference	[DatabaseIdentifier:12020745] Mondo:0004992
dbId	9699150
disease	[Disease:1500689] cancer
displayName	Defective DNA double strand break response due to BARD1 loss of function
doi	10.3180/R-HSA-9699150.1
edited	[InstanceEdit:9706872] Orlic-Milacic, Marija, 2020-11-09
eventOf	[Pathway:R-HSA-9675136] Diseases of DNA Double-Strand Break Repair - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[FailedReaction:R-HSA-9699163] Defective BARD1 does not bind BRCA1 - Homo sapiens
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:9699157] Functional Analysis of BARD1 Missense Variants in Homology-Directed Repair of DNA Double Strand Breaks [LiteratureReference:9699159] Enhancement of BRCA1 E3 ubiquitin ligase activity through direct interaction with the BARD1 protein [LiteratureReference:5659798] Loss of Bard1, the heterodimeric partner of the Brca1 tumor suppressor, results in early embryonic lethality and chromosomal instability [LiteratureReference:9707078] Literature Review of BARD1 as a Cancer Predisposing Gene with a Focus on Breast and Ovarian Cancers [LiteratureReference:9707083] Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families
maxDepth	2
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective DNA double strand break response due to BARD1 loss of function
normalPathway	[Pathway:R-HSA-5693606] DNA Double Strand Break Response
releaseDate	2020-12-08
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:9706944] Baer, Richard J, 2020-11-04
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-9699150
summation	[Summation:9700830] Although germline mutations of BARD1 are implicated in some ...

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[Pathway:R-HSA-9675136] Diseases of DNA Double-Strand Break Repair

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