Reactome | Defective D-loop formation mediated by PALB2, BRCA2 and RAD51 due to loss-of-function of PALB2 in binding to BRCA2/RAD51/RAD51C

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Defective D-loop formation mediated by PALB2, BRCA2 and RAD51 due to loss-of-function of PALB2 in binding to BRCA2/RAD51/RAD51C Show undefined attributes

authored	[InstanceEdit:9704652] Orlic-Milacic, Marija, 2020-10-09
category	transition
compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9704405] Orlic-Milacic, Marija, 2020-10-09
dbId	9704408
disease	[Disease:1500689] cancer
displayName	Defective D-loop formation mediated by PALB2, BRCA2 and RAD51 due to loss-of-function of PALB2 in binding to BRCA2/RAD51/RAD51C
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]
eventOf	[Pathway:R-HSA-9704646] Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function - Homo sapiens
input	[Complex:R-HSA-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] [CandidateSet:R-HSA-9704406] PALB2 mutants (BRCA2/RAD51/RAD51C binding) [nucleoplasm] [EntityWithAccessionedSequence:R-HSA-5685301] RAD51AP1 [nucleoplasm] [OtherEntity:R-ALL-1638790] Sister Chromatid [chromosome]
isChimeric	false
isInDisease	true
isInferred	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: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:R-HSA-5693620] D-loop formation mediated by PALB2, BRCA2 and RAD51
releaseDate	2021-06-09
reviewStatus	[ReviewStatus:9821382] five stars
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
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-9704408
summation	[Summation:9704412] The WD40 domain located in the C-terminus of PALB2, between ...

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[Pathway:R-HSA-9704646] Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function

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