Characterizing the Genomic Heterogeneity of Pediatric Glioblastoma

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dc.contributor.advisorGallo, Marco
dc.contributor.advisorChan, Jennifer A. W.
dc.contributor.authorHoffman, Mary
dc.contributor.committeememberGrewal, Savraj S.
dc.contributor.committeememberCobb, Jennifer A.
dc.date2018-11
dc.date.accessioned2018-09-14T19:52:52Z
dc.date.available2018-09-14T19:52:52Z
dc.date.issued2018-09-05
dc.description.abstractBrain tumors are currently the most common cause of cancer-related deaths among children. With a 5-year survival rate of 20%, pediatric glioblastoma (pGBM) is a lethal brain tumor with no effective treatment options. Although pathologically indistinct from its adult counterpart, recent work has shown that pGBMs diverge at both the genetic and transcriptional level from the adult malignancy. Genomic analyses have identified a recurrent mutation in H3F3A, but this lesion is only present in a fraction of patients and has not contributed to the advancement of effective therapies. Using a longitudinal collection of primary and recurrent pGBMs with matched germlines, I have described a molecularly heterogeneous disease with extreme tumoral evolution. Perhaps my most striking finding is the presence of potentially deleterious structural variants in the patient germlines. Together, these findings suggest a novel hereditary component to tumor etiology which has not been previously described in this malignancy.en_US
dc.identifier.citationHoffman, Mary (2018). Characterizing the Genomic Heterogeneity of Pediatric Glioblastoma (Master's thesis, University of Calgary, Calgary, Canada). Retrieved from https://prism.ucalgary.ca. doi:10.11575/PRISM/32913en_US
dc.identifier.doihttp://dx.doi.org/10.11575/PRISM/32913
dc.identifier.urihttp://hdl.handle.net/1880/107737
dc.language.isoeng
dc.publisher.facultyCumming School of Medicine
dc.publisher.facultyGraduate Studies
dc.publisher.institutionUniversity of Calgaryen
dc.publisher.placeCalgaryen
dc.rightsUniversity of Calgary graduate students retain copyright ownership and moral rights for their thesis. You may use this material in any way that is permitted by the Copyright Act or through licensing that has been assigned to the document. For uses that are not allowable under copyright legislation or licensing, you are required to seek permission.
dc.subjectCancer
dc.subjectbrain cancer
dc.subjectpediatric glioblastoma
dc.subjectgenomic heterogeneity
dc.subjectwhole-genome sequencing
dc.subject.classificationBiology--Cellen_US
dc.subject.classificationGeneticsen_US
dc.subject.classificationBiology--Molecularen_US
dc.subject.classificationBiochemistryen_US
dc.titleCharacterizing the Genomic Heterogeneity of Pediatric Glioblastoma
dc.typemaster thesis
thesis.degree.disciplineBiochemistry and Molecular Biology
thesis.degree.grantorUniversity of Calgary
thesis.degree.nameMaster of Science (MSc)
ucalgary.item.requestcopytrue
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