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Details on Person Defective D-loop formation mediated by PALB2, BRCA2 and RAD51 due to loss-of-function of PALB2 in BRCA1 binding

Class:Id	FailedReaction:9704330
_displayName	Defective D-loop formation mediated by PALB2, BRCA2 and RAD51 due to loss-of-function of PALB2 in BRCA1 binding
_doRelease	TRUE
_timestamp	2021-08-05 04:43:07
authored	[InstanceEdit:9704652] Orlic-Milacic, Marija, 2020-10-09
compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9704329] Orlic-Milacic, Marija, 2020-10-07
disease	[Disease:1500689] cancer
edited	[InstanceEdit:9724778] Orlic-Milacic, Marija, 2021-03-25 [InstanceEdit:9749756] Orlic-Milacic, Marija, 2021-08-05
entityFunctionalStatus	[EntityFunctionalStatus:9704407] loss_of_function of PALB2 mutants (BRCA1 binding) [nucleoplasm]
input	[Complex:5685343] 3' overhanging ssDNA-DSBs:p-MRN:p-S1981,Ac-K3016-ATM:KAT5:BRCA1-C complex:EXO1,DNA2:BLM,WRN:p-S990,Ac-K1249-BRIP1:p-T309-RAD51:p-T3387-BRCA2:SEM1:BCDX2 complex [nucleoplasm] [Homo sapiens] [CandidateSet:9704332] PALB2 mutants (BRCA1 binding) [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:5685301] RAD51AP1 [nucleoplasm] [Homo sapiens] [OtherEntity:1638790] Sister Chromatid [chromosome]
isChimeric	FALSE
literatureReference	[LiteratureReference:517915] PALB2 is an integral component of the BRCA complex required for homologous recombination repair [LiteratureReference:9663864] ClinGen Allele Registry links information about genetic variants [LiteratureReference:9724063] Antiparallel Coiled-Coil Interactions Mediate the Homodimerization of the DNA Damage-Repair Protein PALB2 [LiteratureReference:9724154] LOVD v.2.0: the next generation in gene variant databases [URL:9724151] https://databases.lovd.nl/shared/genes/PALB2 [LiteratureReference:9724030] Compromised BRCA1-PALB2 interaction is associated with breast cancer risk [LiteratureReference:9724146] A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor [LiteratureReference:9724158] Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2 [LiteratureReference:9724157] Functional characterization of 84 PALB2 variants of uncertain significance [LiteratureReference:9724060] Functional Characterization of PALB2 Variants of Uncertain Significance: Toward Cancer Risk and Therapy Response Prediction [LiteratureReference:9749749] PALB2 functionally connects the breast cancer susceptibility proteins BRCA1 and BRCA2
modified	[InstanceEdit:9704386] Orlic-Milacic, Marija, 2020-10-07 [InstanceEdit:9704411] Orlic-Milacic, Marija, 2020-10-09 [InstanceEdit:9724069] Orlic-Milacic, Marija, 2021-03-19 [InstanceEdit:9724161] Orlic-Milacic, Marija, 2021-03-22 [InstanceEdit:9724162] Orlic-Milacic, Marija, 2021-03-22 [InstanceEdit:9724725] Orlic-Milacic, Marija, 2021-03-25 [InstanceEdit:9724779] Orlic-Milacic, Marija, 2021-03-25 [InstanceEdit:9749750] Orlic-Milacic, Marija, 2021-08-05 [InstanceEdit:9749770] Orlic-Milacic, Marija, 2021-08-05 [InstanceEdit:9749772] Orlic-Milacic, Marija, 2021-08-05 [InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective D-loop formation mediated by PALB2, BRCA2 and RAD51 due to loss-of-function of PALB2 in BRCA1 binding
normalReaction	[Reaction:5693620] D-loop formation mediated by PALB2, BRCA2 and RAD51 [Homo sapiens]
releaseDate	2021-06-09
reviewed	[InstanceEdit:9724719] Winqvist, Robert, 2021-02-25 [InstanceEdit:9724724] Pospiech, Helmut, 2021-02-25 [InstanceEdit:9749768] Milano de Souza, Larissa, 2021-07-25 [InstanceEdit:9749767] Masson, Jean-Yves, 2021-07-25
reviewStatus	[ReviewStatus:9821382] five stars
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9704333] R-HSA-9704330.3
summation	[Summation:9704385] The coiled-coil domain at the N-terminus of PALB2 represents...
(hasEvent)	[Pathway:9704331] Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function [Homo sapiens]
(updatedInstance)	[_UpdateTracker:9775499] Update Tracker - [FailedReaction:9704330] Defective D-loop formation mediated by PALB2, BRCA2 and RAD51 due to loss-of-function of PALB2 in BRCA1 binding - v78:[addLiteratureReference, modifyText]
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