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Entries
Defective DNA double strand break response due to BRCA1 loss of function
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authored
[InstanceEdit:9702562] Orlic-Milacic, Marija, 2020-09-30
created
[InstanceEdit:9663197] Orlic-Milacic, Marija, 2019-09-27
dbId
9663199
disease
[Disease:1500689] cancer
displayName
Defective DNA double strand break response due to BRCA1 loss of function
doi
10.3180/R-HSA-9663199.1
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-9663194] Some pathogenic BRCA1 mutants do not bind BARD1 - Homo sapiens
isInDisease
true
isInferred
false
literatureReference
[LiteratureReference:9663191] Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination
[LiteratureReference:5659810] Identification of a RING protein that can interact in vivo with the BRCA1 gene product
[LiteratureReference:9700984] BRCA1 and BRCA2: different roles in a common pathway of genome protection
[LiteratureReference:9700977] BRCA1 RING domain cancer-predisposing mutations. Structural consequences and effects on protein-protein interactions
[LiteratureReference:9706961] BRCA1 tumor suppression depends on BRCT phosphoprotein binding, but not its E3 ligase activity
modified
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name
Defective DNA double strand break response due to BRCA1 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-9663199
summation
[Summation:9700991] Germline mutations in the BRCA1 or BRCA2 tumor suppressor ge...
Referrals
(hasEvent)
[Pathway:R-HSA-9675136] Diseases of DNA Double-Strand Break Repair
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