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Further Confirmation of Germline Glioma Risk Variant rs78378222 in TP53 and Its Implication in Tumor Tissues via Integrative Analysis of TCGA Data
Umeå University, Faculty of Medicine, Department of Radiation Sciences, Oncology.
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2015 (English)In: Human Mutation, ISSN 1059-7794, E-ISSN 1098-1004, Vol. 36, no 7, 684-688 p.Article in journal (Refereed) Published
Abstract [en]

We confirmed strong association of rs78378222:A>C (per allele odds ratio [OR] = 3.14; P = 6.48 x 10(-11)), a germline rare single-nucleotide polymorphism (SNP) in TP53, via imputation of a genome-wide association study of glioma (1,856 cases and 4,955 controls). We subsequently performed integrative analyses on the Cancer Genome Atlas (TCGA) data for GBM (glioblastoma multiforme) and LUAD (lung adenocarcinoma). Based on SNP data, we imputed genotypes for rs78378222 and selected individuals carrying rare risk allele (C). Using RNA sequencing data, we observed aberrant transcripts with approximate to 3 kb longer than normal for those individuals. Using exome sequencing data, we further showed that loss of haplotype carrying common protective allele (A) occurred somatically in GBM but not in LUAD. Our bioinformatic analysis suggests rare risk allele (C) disrupts mRNA termination, and an allelic loss of a genomic region harboring common protective allele (A) occurs during tumor initiation or progression for glioma.

Place, publisher, year, edition, pages
2015. Vol. 36, no 7, 684-688 p.
Keyword [en]
glioma, TP53, rare SNP, TCGA
National Category
Cancer and Oncology
URN: urn:nbn:se:umu:diva-106312DOI: 10.1002/humu.22799ISI: 000356495700005PubMedID: 25907361OAI: diva2:842289
Available from: 2015-07-17 Created: 2015-07-10 Last updated: 2015-07-17Bibliographically approved

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Melin, Beatrice S.Andersson, UlrikaHallmans, GöranHenriksson, Roger
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