Reactome | Defective homologous recombination repair (HRR) due to PALB2 loss of function

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Defective homologous recombination repair (HRR) due to PALB2 loss of function Show undefined attributes

authored	[InstanceEdit:9704652] Orlic-Milacic, Marija, 2020-10-09
compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9701191] Orlic-Milacic, Marija, 2020-09-24
dbId	9701193
disease	[Disease:1500689] cancer
displayName	Defective homologous recombination repair (HRR) due to PALB2 loss of function
doi	10.3180/R-HSA-9701193.2
edited	[InstanceEdit:9724778] Orlic-Milacic, Marija, 2021-03-25 [InstanceEdit:9749757] Orlic-Milacic, Marija, 2021-08-05
eventOf	[Pathway:R-HSA-9675136] Diseases of DNA Double-Strand Break Repair - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[Pathway:R-HSA-9704331] Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function - Homo sapiens [Pathway:R-HSA-9704646] Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function - Homo sapiens
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:517915] PALB2 is an integral component of the BRCA complex required for homologous recombination repair [LiteratureReference:5685831] Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair [LiteratureReference:9704369] A recurrent mutation in PALB2 in Finnish cancer families [LiteratureReference:9704832] Exploring the roles of PALB2 at the crossroads of DNA repair and cancer [LiteratureReference:9704828] The Role of PALB2 in the DNA Damage Response and Cancer Predisposition [LiteratureReference:9704847] PALB2: the hub of a network of tumor suppressors involved in DNA damage responses [LiteratureReference:9704846] PALB2/FANCN: recombining cancer and Fanconi anemia [LiteratureReference:9704840] Molecular Mechanisms of PALB2 Function and Its Role in Breast Cancer Management [LiteratureReference:9704776] Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer [LiteratureReference:9724009] Penetrance analysis of the PALB2 c.1592delT founder mutation [LiteratureReference:9724005] Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families [LiteratureReference:9724030] Compromised BRCA1-PALB2 interaction is associated with breast cancer risk [LiteratureReference:9724045] PALB2 connects BRCA1 and BRCA2 in the G2/M checkpoint response [LiteratureReference:9724038] The Tumor Suppressor PALB2: Inside Out [LiteratureReference:9724035] Breast-cancer risk in families with mutations in PALB2 [LiteratureReference:9749719] PALB2 Variants: Protein Domains and Cancer Susceptibility [LiteratureReference:5685664] Cooperation of breast cancer proteins PALB2 and piccolo BRCA2 in stimulating homologous recombination [LiteratureReference:5685672] Enhancement of RAD51 recombinase activity by the tumor suppressor PALB2 [LiteratureReference:9749724] PALB2 self-interaction controls homologous recombination [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:9847082] Weiser, Joel, 2023-10-12
name	Defective homologous recombination repair (HRR) due to PALB2 loss of function
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	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-9701193
summation	[Summation:9704360] Biallelic loss-of-function mutations in PALB2 results...

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

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