Interplay between Fanconi anemia and homologous recombination pathways in genome integrity

The Fanconi anemia (FA) pathway plays a central role in the repair of DNA interstrand crosslinks (ICLs) and regulates cellular responses to replication stress. Homologous recombination (HR), the error-free pathway for double-strand break (DSB) repair, is required during physiological cell cycle progression for the repair of replication-associated DNA damage and protection of stalled replication forks. Substantial crosstalk between the two pathways has recently been unravelled, in that key HR proteins such as the RAD51 recombinase and the tumour suppressors BRCA1 and BRCA2 also play important roles in ICL repair. Consistent with this, rare patient mutations in these HR genes cause FA pathologies and have been assigned FA complementation groups. Here, we focus on the clinical and mechanistic implications of the connection between these two cancer susceptibility syndromes and on how these two molecular pathways of DNA replication and repair interact functionally to prevent genomic instability.
Source: EMBO Journal - Category: Molecular Biology Authors: Tags: Cancer, DNA Replication, Repair & Recombination, Molecular Biology of Disease Reviews Source Type: research

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Source: Translational Research : the journal of laboratory and clinical medicine - Category: Laboratory Medicine Authors: Tags: Transl Res Source Type: research
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Source: PLoS Genetics - Category: Genetics & Stem Cells Authors: Source Type: research
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Source: Haematologica - Category: Hematology Authors: Tags: Haematologica Source Type: research
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Source: Journal of Biological Chemistry - Category: Chemistry Authors: Tags: Additions and Corrections Source Type: research
Conditions:   ARID1A Gene Mutation;   ATM Gene Mutation;   ATR Gene Mutation;   Bile Duct Adenocarcinoma;   BRCA1 Gene Mutation;   BRCA2 Gene Mutation;   BRIP1 Gene Mutation;   CHEK2 Gene Mutation;   EMSY Gene Mutation;   Fanconi Anemia Complementation Group Gene Mutation;   Metast atic Bile Duct Carcinoma;   MRE11 Gene Mutation;   NBN Gene Mutation;   PALB2 Gene Mutation;   PTEN Gene Deletion;   RAD51...
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
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Source: BMC Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Case report Source Type: research
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Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
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Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
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Source: Best Practice and Research Clinical Haematology - Category: Hematology Source Type: research
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