{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"contact_person":["Philipp Euskirchen"],"full_dataset_link":["https://ega-archive.org/dacs/EGAC00001000354"],"host":["EGA"],"description":["EGA DAC EGAC00001000354"],"repository":["EGA"],"email":["philipp.euskirchen@charite.de"],"pubmed_abstract":["Promoter methylation status of O-6-methylguanine-DNA methyltransferase (MGMT), a DNA repair enzyme, is a critical biomarker in glioblastoma (GBM), as treatment decisions and clinical trial inclusion rely on its accurate assessment. However, interpretation of results is complicated by poor interassay reproducibility as well as a weak correlation between methylation status and expression levels of MGMT. This study systematically investigates the influence of tumor purity on tissue subjected to MGMT analysis. A quantitative, allele-specific real-time PCR (qAS-PCR) assay was developed to determine genotype and mutant allele frequency of telomerase promoter (pTERT) mutations as a direct measure of tumor purity. We studied tumor purity, pTERT mutation by Sanger sequencing, MGMT methylation by pyrosequencing, IDH1 mutation status, and clinical parameters in a cohort of high-grade gliomas (<i>n</i> = 97). The qAS-PCR reliably predicted pTERT genotype and tumor purity compared with independent methods. Tumor purity positively and significantly correlated with the extent of methylation in MGMT methylated GBMs. Extent of MGMT methylation differed significantly with respect to pTERT mutation hotspot (C228T vs. C250T). Interestingly, frontal lobe tumors showed greater tumor purity than those in other locations. Above all, tumor purity was identified as an independent prognostic factor in GBM. In conclusion, we determined mutual associations of tumor purity with MGMT methylation and pTERT mutations and found that the extent of MGMT methylation reflects tumor purity. In turn, tumor purity is prognostic in IDH1 wild-type GBM.<b>Implications:</b> Tumor purity is an independent prognostic marker in glioblastoma and is associated with the extent of MGMT methylation. <i>Mol Cancer Res; 15(5); 532-40. ©2017 AACR</i>."],"pubmed_title":["Prognostic Relevance of Tumor Purity and Interaction with MGMT Methylation in Glioblastoma."],"pubmed_authors":["Schulze Heuling Eva E, Knab Felix F, Radke Josefine J, Eskilsson Eskil E, Martinez-Ledesma Emmanuel E, Koch Arend A, Czabanka Marcus M, Dieterich Christoph C, Verhaak Roel G RG, Harms Christoph C, Euskirchen Philipp P"],"pubmed_title_synonyms":["grade IV adult astrocytic tumour, Malignant Neoplasm, O6-alkylguanine-DNA alkyltransferase, Neoplasms, Benign Neoplasm, Tumor, methylated-DNA-protein-cysteine S-methyltransferase activity, Giant Cell, Grade IV, Malignant, Astrocytomas, DNA-6-O-methylguanine:protein-L-cysteine S-methyltransferase activity, DNA-6-O-methylguanine - [protein]-L-cysteine S-methyltransferase activity, adult glioblastoma multiforme, Benign, 6-O-methylguanine-DNA methyltransferase activity, primary glioblastoma multiforme, Neoplasm, DNA-6-O-methylguanine:[protein]-L-cysteine S-methyltransferase activity, glioblastoma, methylation, Giant Cell Glioblastomas, 6-O-methylguanine-DNA methyltransferase, DNA-6-O-methylguanine - protein-L-cysteine S-methyltransferase activity, glioblastoma multiforme, O-6-methylguanine-DNA-alkyltransferase, Glioblastoma, grade IV adult astrocytic tumor, O-6-methylguanine-DNA-alkyltransferase activity, Malignancy, spongioblastoma multiforme, Glioblastomas, GBM, Benign Neoplasms, Cancers, Giant Cell Glioblastoma, Astrocytoma, Malignant Neoplasms, Neoplasias, Glioblastoma Multiforme, 2.1.1.63, MGMT, Agat, Grade IV Astrocytomas, grade IV adult Astrocytic tumor, AGT, Malignancies, Grade IV Astrocytoma, Grade IV., other neoplasm, Methylations, Neoplasia, Cancer, Tumors, AI267024"],"name_synonyms":["zfhep, nil2a., glioblastoma multiforme, grade IV adult astrocytic tumour, Nil2, nil-2a, TCF8, Tcf8, grade IV adult astrocytic tumor, spongioblastoma multiforme, Zfhx1a, 3110032K11Rik, Tcf18, AREB6, ZFHEP, zfhx1, GBM, DELTAEF1, zeb, Zfx1ha, Zfx1a, bzp, fecd6, TCF-8, deltaef1, adult glioblastoma multiforme, MEB1, Tw, Zfhep, areb6, grade IV adult Astrocytic tumor, primary glioblastoma multiforme, FECD6, NIL2A, [delta]EF1, ZEB, tcf8, BZP, ZFHX1A, PPCD3"],"pubmed_abstract_synonyms":["extent, MGC130048, Biological Markers, Viral Marker, Surrogate Endpoints, O6-alkylguanine-DNA alkyltransferase, Nucleotide Sequencing, determination, Laboratory, Massively-Parallel, Biochemical, A4, Endpoint, nip, Serum, Tumor, Astrocytomas, Lobus Frontalis, Long Term, DNA-6-O-methylguanine:protein-L-cysteine S-methyltransferase activity, Mutations, Laboratory Markers, Techniques, Personal, High-Throughput RNA Sequencing, Biological, Method, Telomerase Catalytic, Associations, AI314845, B1, l(2)SH1330, DNA-6-O-methylguanine:[protein]-L-cysteine S-methyltransferase activity, Polymerase Chain, Frontal, Effect, Id-1, Deep Sequencing, PICD, treatment, gamma sarcoglycan, thymus nucleic acid, Frontal Cortex, Subunit, Illumina Sequencing, Idpc, Intervention Study, Tissue, Inverse Polymerase Chain Reaction, 35Bb, procedures, Giant Cell Glioblastoma, Frontal Cortices, Astrocytoma, Brodmann Area 8, Immune, Markers, High Throughput RNA Sequencing, Methodological Studies, malignant neoplasm, scientific observation, Viral Markers, grade IV adult Astrocytic tumor, Reaction, Telomerase Reverse Transcriptase Catalytic Subunit, IDPC, disease management, Therapies, gamma-sarcoglycan, Double-Stranded DNA, Malignancies, deoxyribonucleic acids, DNAn, Long-Term Effects, Tumors, High-Throughput RNA, Therapy, Brodmann's, Anchored Polymerase Chain Reaction, Viral, Surrogate Endpoint, completeness, IDH, frequency, SG-gamma, Longterm Effect, Telomerase Reverse, High-Throughput DNA Sequencing, IDP, Biochemical Markers, Double-Stranded, Giant Cell, Procedure, Biologic Marker, Frontal Eye Fields, results, Telomerase, IDCD, predicted, (Deoxyribonucleotide)n+m, DNA-6-O-methylguanine - [protein]-L-cysteine S-methyltransferase activity, Ion Torrent Sequencing, Benign, l(2)br3, l35Bb, Marker, 6-O-methylguanine-DNA methyltransferase activity, primary glioblastoma multiforme, Massively-Parallel Sequencing, Next-Generation, sarcoglycan, simple tissue, Ion Torrent, desoxyribose nucleic acid, PCR, 6-O-methylguanine-DNA methyltransferase, DNA-6-O-methylguanine - protein-L-cysteine S-methyltransferase activity, Idh-1, Glioblastoma, O-6-methylguanine-DNA-alkyltransferase activity, End Points, Nested Polymerase Chain Reaction, spongioblastoma multiforme, Dignity, Brodmanns Area 8, GBM, Benign Neoplasms, Immunologic, Methodological, Laboratory Marker, DNA repair enzyme, Supplementary, gamma (35kDa dystrophin-associated glycoprotein), surveillance, Methodological Study, Treatments, morbidity, polymerase chain reaction, Malignant Neoplasms, l(2)SH2 1330, High Throughput Sequencing, MGMT, Area 8, Agat, DMDA, Grade IV Astrocytomas, Supplementary Eye Fields, Biochemical Marker, 35kD dystrophin-associated glycoprotein, ds DNA, AGT, BG:DS01219.1, DNA, other neoplasm, Malignant Neoplasms., Lobe, High Throughput DNA Sequencing, Respect, DNS, SGCG_HUMAN, Procedures, (Deoxyribonucleotide)n, Clinical Markers, Effects, mol, Clinical Marker, Neoplasms, Benign Neoplasm, number, Polymerase Chain Reactions, High-Throughput DNA, DNA repair protein, Grade IV, Inverse, Malignant, presence, DmelCG4482, Illumina, TYPE, Deoxyribonucleic acids, Next-Generation Sequencing, Surrogate End Points, DAGA4, Surrogate Markers, Inverse PCR, Repair Enzyme, Deoxyribonucleic Acid, Deep, Repair Enzymes, Brodmann's Area 8, 35DAG, Studies, glioblastoma, Massively Parallel Sequencing, MAM, gamma-SG, Giant Cell Glioblastomas, HEL-216, AI788952, SCG3, Sanger sequencing, Technique, l(2)br23, Biomarker, study, Methyltransferase, Ion Proton Sequencing, Clinical, grade IV adult astrocytic tumor, Malignancy, Longterm, occurrence, Biological Marker, weak, prevalence, frontal cortex, Double Stranded, Frontal Eye Field, Deoxyribonucleic acid, Pyrosequencing, Eye Field, Long-Term, E030024J03Rik, Sequencing, Genotypes, dye terminator sequencing, Neoplasias, Study, Glioblastoma Multiforme, Reverse Transcriptase, Enzyme, Immunologic Markers, Catalytic Subunit, Telomerase Catalytic Subunit, Personal Respect, High-Throughput, RNA Sequencing, Long-Term Effect, (Deoxyribonucleotide)m, Grade IV Astrocytoma, Anchored PCR, Immunologic Marker, Methylations, Supplementary Eye Field, Biologic, incidence, AI267024, Cancer, measuring, grade IV adult astrocytic tumour, Telomerase Reverse Transcriptase, Malignant Neoplasm, 35 kDa dystrophin-associated glycoprotein, CG4482, DNAn+1, Serum Markers, l(2)35Bb, End Point, methylated-DNA-protein-cysteine S-methyltransferase activity, SGCG, Immune Marker, LGMD2C, Enzymes, adult glioblastoma multiforme, count in organism, Cortex, MT, Genogroup, pyrosequencing, Surrogate End Point, Brodmann, DNA Sequencing, chemical analysis, Long Term Effects, HEL-S-26, Neoplasm, methylation, techniques, ds-DNA, outbreaks, INSDC_feature:regulatory, Next Generation Sequencing, Biologic Markers, glioblastoma multiforme, O-6-methylguanine-DNA-alkyltransferase, Anchored, Serum Marker, primary cancer, Reactions, Nested, DMDA1, Surrogate, Endpoints, Glioblastomas, Cancers, CG15268, malignant tumor, Surrogate Marker, endemics, DNA Repair Enzyme, Longterm Effects, br3, Genogroups, Eye Fields, 2.1.1.63, Therapeutic, High-Throughput Sequencing, Transcriptase, SCARMD2, Desoxyribonukleinsaeure, Nested PCR, High Throughput Nucleotide Sequencing, Treatment, epidemics, NIP, assay, DNA Repair, Ion Proton, Frontal Lobes, Neoplasia, High-Throughput Nucleotide, methodology, Immune Markers"],"additional_accession":[]},"is_claimable":false,"name":"GBM-ZEB1 Data Access Committee","description":"Data Access Committee EGAC00001000354","dates":{"output":"2025-1-9"},"accession":"EGAC00001000354","cross_references":{"TAXONOMY":["9606"],"pubmed":["28148826"],"EGA":["EGAS00001006540","EGAS00001001167","EGAD00001009663","EGAD00001001627","EGAD00001002893"]}}