2020
Persistent STAG2 mutation despite multimodal therapy in recurrent pediatric glioblastoma
Hong CS, Vasquez JC, Kundishora AJ, Elsamadicy AA, Beckta JM, Sule A, Marks AM, Leelatian N, Huttner A, Bindra RS, DiLuna ML, Kahle KT, Erson-Omay EZ. Persistent STAG2 mutation despite multimodal therapy in recurrent pediatric glioblastoma. Npj Genomic Medicine 2020, 5: 23. PMID: 32528726, PMCID: PMC7264170, DOI: 10.1038/s41525-020-0130-7.Peer-Reviewed Original ResearchPediatric patientsStandard chemoradiationSTAG2 mutationsTumor clonesPediatric glioblastomaGross total resectionMultiple surgical resectionsTime of recurrenceHigh-grade gliomasDNA damage repair defectsWhole-exome sequencingVariety of treatmentsSurgical resectionNovel deleterious mutationsStandard therapyTotal resectionVaccine therapyClinical evidencePreclinical dataTreatment optionsMultimodal therapyPreclinical studiesClinical settingTherapyAdult counterparts
2017
Bi‐allelic alterations in DNA repair genes underpin homologous recombination DNA repair defects in breast cancer
Mutter RW, Riaz N, Ng CK, Delsite R, Piscuoglio S, Edelweiss M, Martelotto LG, Sakr RA, King TA, Giri DD, Drobnjak M, Brogi E, Bindra R, Bernheim G, Lim RS, Blecua P, Desrichard A, Higginson D, Towers R, Jiang R, Lee W, Weigelt B, Reis‐Filho J, Powell SN. Bi‐allelic alterations in DNA repair genes underpin homologous recombination DNA repair defects in breast cancer. The Journal Of Pathology 2017, 242: 165-177. PMID: 28299801, PMCID: PMC5516531, DOI: 10.1002/path.4890.Peer-Reviewed Original ResearchConceptsBreast cancerGermline BRCA1/BRCA2 mutationsBRCA1/BRCA2 mutationsPrecision medicine-based approachPrimary breast cancerTumour-specific DNA repair defectsSporadic breast cancerGermline genetic alterationsBi-allelic lossWhole-exome sequencingSpecific mutational signaturesComprehensive genetic assessmentBRCA2 mutationsLarge-scale state transitionsBi-allelic alterationsCancerGenetic alterationsDNA repair defectsMutational signaturesTherapyAlterationsRepair defectsGene expressionGenetic assessmentHR genes