2021
Interplay between copy number alterations and immune profiles in the early breast cancer Scandinavian Breast Group 2004-1 randomized phase II trial: results from a feasibility study
Zerdes I, Simonetti M, Matikas A, Harbers L, Acs B, Boyaci C, Zhang N, Salgkamis D, Agartz S, Moreno-Ruiz P, Bai Y, Rimm DL, Hartman J, Mezheyeuski A, Bergh J, Crosetto N, Foukakis T. Interplay between copy number alterations and immune profiles in the early breast cancer Scandinavian Breast Group 2004-1 randomized phase II trial: results from a feasibility study. Npj Breast Cancer 2021, 7: 144. PMID: 34799582, PMCID: PMC8604966, DOI: 10.1038/s41523-021-00352-3.Peer-Reviewed Original ResearchMultiplexed fluorescent immunohistochemistryPhase II trialII trialEarly breast cancer patientsSomatic copy number alterationsCopy number alterationsEarly breast cancerBreast cancer patientsAbundant immune cellsImmune cell compositionParaffin-embedded tissue samplesNumber alterationsImmune profilePD-1PD-L1Immune profilingLymphocytic infiltrationCancer patientsImmune cellsBreast cancerT cellsLarge cohortFluorescent immunohistochemistryTissue samplesPathological samples
2014
Whole-Exome Sequencing Characterizes the Landscape of Somatic Mutations and Copy Number Alterations in Adrenocortical Carcinoma
Juhlin CC, Goh G, Healy JM, Fonseca AL, Scholl UI, Stenman A, Kunstman JW, Brown TC, Overton JD, Mane SM, Nelson-Williams C, Bäckdahl M, Suttorp AC, Haase M, Choi M, Schlessinger J, Rimm DL, Höög A, Prasad ML, Korah R, Larsson C, Lifton RP, Carling T. Whole-Exome Sequencing Characterizes the Landscape of Somatic Mutations and Copy Number Alterations in Adrenocortical Carcinoma. The Journal Of Clinical Endocrinology & Metabolism 2014, 100: e493-e502. PMID: 25490274, PMCID: PMC5393505, DOI: 10.1210/jc.2014-3282.Peer-Reviewed Original ResearchConceptsAdrenocortical carcinomaSomatic mutationsCopy number alterationsNumber alterationsNonsynonymous somatic mutationsWnt pathway dysregulationHomozygous deletionMajority of casesPotential disease-causing mutationsWhole-exome sequencingUnderlying somatic mutationsLethal malignancyPathway dysregulationTumorsExome sequencingFocal CNAsDisease-causing mutationsCarcinomaTERT locusZNRF3Recurrent CNAsAlterationsNormal samplesTP53Unknown role