BRCA2 BRC missense variants disrupt RAD51-dependent DNA repair
Jimenez-Sainz J, Mathew J, Moore G, Lahiri S, Garbarino J, Eder JP, Rothenberg E, Jensen RB. BRCA2 BRC missense variants disrupt RAD51-dependent DNA repair. ELife 2022, 11: e79183. PMID: 36098506, PMCID: PMC9545528, DOI: 10.7554/elife.79183.Peer-Reviewed Original ResearchConceptsHomology-directed repairDNA double-strand breaksFork protectionReplication fork protectionRad51 nucleoprotein filamentsMissense mutationsSingle amino acid substitutionRad51-ssDNA complexesDouble-strand breaksUnknown functional consequencesBRCA2 VUSAmino acid substitutionsGenome stabilityNucleoprotein filamentDNA repairRepeat regionSpacer regionBRCA2 proteinBenign allelesCellular responsesAcid substitutionsFunctional consequencesFrameshift mutationGene predisposeBRC2Preserving genome integrity in human cells via DNA double-strand break repair
Jensen RB, Rothenberg E. Preserving genome integrity in human cells via DNA double-strand break repair. Molecular Biology Of The Cell 2020, 31: 859-865. PMID: 32286930, PMCID: PMC7185975, DOI: 10.1091/mbc.e18-10-0668.Peer-Reviewed Original ResearchConceptsGenome integrityHuman cellsHuman diseasesRepair pathwaysDNA DSB repair pathwaysDNA double-strand break repairDNA double-strand break repair pathwayDouble-strand break repair pathwayDouble-strand break repairDSB repair pathwaysCell cycle checkpointsBreak repair pathwayFull tumorigenic potentialDNA repair failureChromatin dynamicsGenome stabilityNuclear architectureCellular signalingDNA replicationBreak repairCellular stressCycle checkpointsDNA repairCellular activitiesHomologous recombination-deficient tumors