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Further Confirmatio...
Further Confirmation of Germline Glioma Risk Variant rs78378222 in TP53 and Its Implication in Tumor Tissues via Integrative Analysis of TCGA Data
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Wang, Zhaoming (author)
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Rajaraman, Preetha (author)
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- Melin, Beatrice S. (author)
- Umeå universitet,Onkologi
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Chung, Charles C. (author)
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Zhang, Weijia (author)
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McKean-Cowdin, Roberta (author)
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Michaud, Dominique (author)
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Yeager, Meredith (author)
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- Ahlbom, Anders (author)
- Karolinska Institutet
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Albanes, Demetrius (author)
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- Andersson, Ulrika (author)
- Umeå universitet,Onkologi
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Freeman, Laura E. Beane (author)
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Buring, Julie E. (author)
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Butler, Mary Ann (author)
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Carreon, Tania (author)
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- Feychting, Maria (author)
- Karolinska Institutet
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Gapstur, Susan M. (author)
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Gaziano, J. Michael (author)
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Giles, Graham G. (author)
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- Hallmans, Göran (author)
- Umeå universitet,Enheten för biobanksforskning,Näringsforskning
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- Henriksson, Roger (author)
- Umeå universitet,Onkologi
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Hoffman-Bolton, Judith (author)
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Inskip, Peter D. (author)
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Kitahara, Cari M. (author)
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Marchand, Loic Le (author)
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Linet, Martha S. (author)
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Li, Shengchao (author)
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Peters, Ulrike (author)
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Purdue, Mark P. (author)
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Rothman, Nathaniel (author)
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Ruder, Avima M. (author)
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Sesso, Howard D. (author)
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Severi, Gianluca (author)
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Stampfer, Meir (author)
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Stevens, Victoria L. (author)
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Visvanathan, Kala (author)
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Wang, Sophia S. (author)
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White, Emily (author)
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Zeleniuch-Jacquotte, Anne (author)
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Hoover, Robert (author)
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Fraumeni, Joseph F. (author)
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Chatterjee, Nilanjan (author)
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Hartge, Patricia (author)
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Chanock, Stephen J. (author)
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(creator_code:org_t)
- 2015-05-18
- 2015
- English.
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In: Human Mutation. - : Hindawi Limited. - 1059-7794 .- 1098-1004. ; 36:7, s. 684-688
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https://europepmc.or...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Subject headings
Close
- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Keyword
- glioma
- TP53
- rare SNP
- TCGA
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
To the university's database
- By the author/editor
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Wang, Zhaoming
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Rajaraman, Preet ...
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Melin, Beatrice ...
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Chung, Charles C ...
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Zhang, Weijia
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McKean-Cowdin, R ...
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show more...
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Michaud, Dominiq ...
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Yeager, Meredith
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Ahlbom, Anders
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Albanes, Demetri ...
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Andersson, Ulrik ...
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Freeman, Laura E ...
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Buring, Julie E.
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Butler, Mary Ann
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Carreon, Tania
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Feychting, Maria
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Gapstur, Susan M ...
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Gaziano, J. Mich ...
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Giles, Graham G.
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Hallmans, Göran
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Henriksson, Roge ...
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Hoffman-Bolton, ...
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Inskip, Peter D.
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Kitahara, Cari M ...
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Marchand, Loic L ...
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Linet, Martha S.
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Li, Shengchao
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Peters, Ulrike
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Purdue, Mark P.
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Rothman, Nathani ...
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Ruder, Avima M.
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Sesso, Howard D.
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Severi, Gianluca
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Stampfer, Meir
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Stevens, Victori ...
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Visvanathan, Kal ...
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Wang, Sophia S.
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White, Emily
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Zeleniuch-Jacquo ...
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Hoover, Robert
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Fraumeni, Joseph ...
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Chatterjee, Nila ...
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Hartge, Patricia
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Chanock, Stephen ...
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cancer and Oncol ...
- Articles in the publication
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Human Mutation
- By the university
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Umeå University
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Karolinska Institutet