2019
Modification of the base excision repair enzyme MBD4 by the small ubiquitin-like molecule SUMO1
Sannai M, Doneddu V, Giri V, Seeholzer S, Nicolas E, Yip S, Bassi M, Mancuso P, Cortellino S, Cigliano A, Lurie R, Ding H, Chernoff J, Sobol R, Yen T, Bagella L, Bellacosa A. Modification of the base excision repair enzyme MBD4 by the small ubiquitin-like molecule SUMO1. DNA Repair 2019, 82: 102687. PMID: 31476572, PMCID: PMC6785017, DOI: 10.1016/j.dnarep.2019.102687.Peer-Reviewed Original ResearchConceptsTandem affinity purificationDNA damage responseSumoylation sitesDamage responseDNA mismatch repair protein MLH1Mismatch repair protein MLH1Main SUMOylation siteCalmodulin affinity columnTranscriptional regulationHEK-293 cellsGenomic stabilityNovel proteinCancer Genome AtlasGlycosylase activitySUMOylationProtein MLH1Affinity purificationMBD4CpG sitesU mismatchesUnmodified speciesRepair activityMissense mutationsGenome AtlasHEK-293
2018
Germline genetic testing for inherited prostate cancer in practice: Implications for genetic testing, precision therapy, and cascade testing
Giri V, Hegarty S, Hyatt C, O'Leary E, Garcia J, Knudsen K, Kelly W, Gomella L. Germline genetic testing for inherited prostate cancer in practice: Implications for genetic testing, precision therapy, and cascade testing. The Prostate 2018, 79: 333-339. PMID: 30450585, DOI: 10.1002/pros.23739.Peer-Reviewed Original ResearchConceptsBreast cancer family historyCancer family historyProstate cancerFamily historyMetastatic diseaseGleason scoreExact testGenetic testingRetrospective cross-sectional analysisDNA repair genesCurrent NCCN guidelinesInherited prostate cancerGermline genetic testingHigh Gleason scoreFisher's exact testIdentification of menRepair genesPathogenic variant spectrumCross-sectional analysisFamily history dataGenetic testing capabilitiesNCCN guidelinesTherapeutic managementMultigene testingPV rates
2015
Systematic evaluation of underlying defects in DNA repair as an approach to case-only assessment of familial prostate cancer
Nicolas E, Arora S, Zhou Y, Serebriiskii I, Andrake M, Handorf E, Bodian D, Vockley J, Dunbrack R, Ross E, Egleston B, Hall M, Golemis E, Giri V, Daly M. Systematic evaluation of underlying defects in DNA repair as an approach to case-only assessment of familial prostate cancer. Oncotarget 2015, 6: 39614-39633. PMID: 26485759, PMCID: PMC4741850, DOI: 10.18632/oncotarget.5554.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAntineoplastic Agents, PhytogenicCells, CulturedDNA Breaks, Double-StrandedDNA RepairEtoposideExomeFamily HealthGenetic Predisposition to DiseaseHistonesHumansINDEL MutationMaleMiddle AgedMutationPolymorphism, Single NucleotideProstatic NeoplasmsRisk AssessmentRisk FactorsSequence Analysis, DNAT-Lymphocytes