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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 binding to BRCA2/RAD51/RAD51C

Class:Id	FailedReaction:9704408
_displayName	Defective D-loop formation mediated by PALB2, BRCA2 and RAD51 due to loss-of-function of PALB2 in binding to BRCA2/RAD51/RAD51C
_doRelease	TRUE
_timestamp	2021-08-05 04:43:10
authored	[InstanceEdit:9704652] Orlic-Milacic, Marija, 2020-10-09
compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9704405] Orlic-Milacic, Marija, 2020-10-09
disease	[Disease:1500689] cancer
edited	[InstanceEdit:9724778] Orlic-Milacic, Marija, 2021-03-25 [InstanceEdit:9749771] Orlic-Milacic, Marija, 2021-08-05
entityFunctionalStatus	[EntityFunctionalStatus:9704404] loss_of_function of PALB2 mutants (BRCA2/RAD51/RAD51C 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] [EntityWithAccessionedSequence:5685301] RAD51AP1 [nucleoplasm] [Homo sapiens] [OtherEntity:1638790] Sister Chromatid [chromosome] [CandidateSet:9704406] PALB2 mutants (BRCA2/RAD51/RAD51C binding) [nucleoplasm] [Homo sapiens]
isChimeric	FALSE
literatureReference	[LiteratureReference:5685831] Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair [LiteratureReference:9704742] Analysis of PALB2/FANCN-associated breast cancer families [LiteratureReference:9704762] Fanconi anemia is associated with a defect in the BRCA2 partner PALB2 [LiteratureReference:9704776] Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer [LiteratureReference:9646518] COSMIC: somatic cancer genetics at high-resolution [LiteratureReference:9704791] PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene [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:9724060] Functional Characterization of PALB2 Variants of Uncertain Significance: Toward Cancer Risk and Therapy Response Prediction [LiteratureReference:9724157] Functional characterization of 84 PALB2 variants of uncertain significance [URL:9724151] https://databases.lovd.nl/shared/genes/PALB2 [LiteratureReference:9724154] LOVD v.2.0: the next generation in gene variant databases [LiteratureReference:9749754] A PALB2-interacting domain in RNF168 couples homologous recombination to DNA break-induced chromatin ubiquitylation [LiteratureReference:5686083] Breast cancer proteins PALB2 and BRCA2 stimulate polymerase ? in recombination-associated DNA synthesis at blocked replication forks [LiteratureReference:9749758] Structural basis for recruitment of BRCA2 by PALB2 [LiteratureReference:9749727] Cancer-causing mutations in the tumor suppressor PALB2 reveal a novel cancer mechanism using a hidden nuclear export signal in the WD40 repeat motif
modified	[InstanceEdit:9704414] Orlic-Milacic, Marija, 2020-10-09 [InstanceEdit:9704757] Orlic-Milacic, Marija, 2020-10-13 [InstanceEdit:9704767] Orlic-Milacic, Marija, 2020-10-13 [InstanceEdit:9704782] Orlic-Milacic, Marija, 2020-10-14 [InstanceEdit:9704797] Orlic-Milacic, Marija, 2020-10-14 [InstanceEdit:9704852] Orlic-Milacic, Marija, 2020-10-14 [InstanceEdit:9704853] Orlic-Milacic, Marija, 2020-10-14 [InstanceEdit:9724326] Orlic-Milacic, Marija, 2021-03-23 [InstanceEdit:9724725] Orlic-Milacic, Marija, 2021-03-25 [InstanceEdit:9724777] Orlic-Milacic, Marija, 2021-03-25 [InstanceEdit:9724778] Orlic-Milacic, Marija, 2021-03-25 [InstanceEdit:9724779] Orlic-Milacic, Marija, 2021-03-25 [InstanceEdit:9749757] Orlic-Milacic, Marija, 2021-08-05 [InstanceEdit:9749763] 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 binding to BRCA2/RAD51/RAD51C
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:9704410] R-HSA-9704408.3
summation	[Summation:9704412] The WD40 domain located in the C-terminus of PALB2, between ...
(hasEvent)	[Pathway:9704646] Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function [Homo sapiens]
(updatedInstance)	[_UpdateTracker:9775497] Update Tracker - [FailedReaction:9704408] Defective D-loop formation mediated by PALB2, BRCA2 and RAD51 due to loss-of-function of PALB2 in binding to BRCA2/RAD51/RAD51C - v78:[addLiteratureReference, modifyText]
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