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A genome-wide assoc...
A genome-wide association study on medulloblastoma
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- Dahlin, Anna M., 1979- (author)
- Umeå universitet,Onkologi
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- Wibom, Carl (author)
- Umeå universitet,Onkologi
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- Andersson, Ulrika (author)
- Umeå universitet,Onkologi
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Bybjerg-Grauholm, Jonas (author)
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Deltour, Isabelle (author)
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Hougaard, David M. (author)
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Scheurer, Michael E. (author)
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Lau, Ching C. (author)
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McKean-Cowdin, Roberta (author)
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Kennedy, Rebekah J. (author)
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Hung, Long T. (author)
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Yee, Janis (author)
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Margol, Ashley S. (author)
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Barrington-Trimis, Jessica (author)
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Gauderman, W. James (author)
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- Feychting, Maria (author)
- Karolinska Institutet
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Schüz, Joachim (author)
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Röösli, Martin (author)
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Kjaerheim, Kristina (author)
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Prochazka, Michaela (author)
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Adel Fahmideh, Maral (author)
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Lannering, Birgitta (author)
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Schmidt, Lisbeth S. (author)
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Johansen, Christoffer (author)
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Sehested, Astrid (author)
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Kuehni, Claudia (author)
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Grotzer, Michael (author)
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Tynes, Tore (author)
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Eggen, Tone (author)
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Klaeboe, Lars (author)
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Januszkiewicz-Lewandowska, Danuta (author)
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Fichna, Marta (author)
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Nowak, Jerzy (author)
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Searles Nielsen, Susan (author)
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Asgharzadeh, Shahab (author)
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Mirabello, Lisa (author)
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- Hjalmars, Ulf (author)
- Umeå universitet,Onkologi
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- Melin, Beatrice S. (author)
- Umeå universitet,Onkologi
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(creator_code:org_t)
- 2020-02-13
- 2020
- English.
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In: Journal of Neuro-Oncology. - : Springer. - 0167-594X .- 1573-7373. ; 147:2, s. 309-315
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Abstract
Subject headings
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- Introduction: Medulloblastoma is a malignant embryonal tumor of the cerebellum that occurs predominantly in children. To find germline genetic variants associated with medulloblastoma risk, we conducted a genome-wide association study (GWAS) including 244 medulloblastoma cases and 247 control subjects from Sweden and Denmark.Methods: Genotyping was performed using Illumina BeadChips, and untyped variants were imputed using IMPUTE2.Results: Fifty-nine variants in 11 loci were associated with increased medulloblastoma risk (p < 1 × 10–5), but none were statistically significant after adjusting for multiple testing (p < 5 × 10–8). Thirteen of these variants were genotyped, whereas 46 were imputed. Genotyped variants were further investigated in a validation study comprising 249 medulloblastoma cases and 629 control subjects. In the validation study, rs78021424 (18p11.23, PTPRM) was associated with medulloblastoma risk with OR in the same direction as in the discovery cohort (ORT = 1.59, pvalidation = 0.02). We also selected seven medulloblastoma predisposition genes for investigation using a candidate gene approach: APC, BRCA2, PALB2, PTCH1, SUFU, TP53, and GPR161. The strongest evidence for association was found for rs201458864 (PALB2, ORT = 3.76, p = 3.2 × 10–4) and rs79036813 (PTCH1, ORA = 0.42, p = 2.6 × 10–3).Conclusion: The results of this study, including a novel potential medulloblastoma risk loci at 18p11.23, are suggestive but need further validation in independent cohorts.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
Keyword
- Pediatric cancers
- CNS cancers
- Adolescents and young adults (AYA)
- Epidemiology
- Genetics of risk
- outcome
- and prevention
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Dahlin, Anna M., ...
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Wibom, Carl
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Andersson, Ulrik ...
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Bybjerg-Grauholm ...
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Deltour, Isabell ...
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Hougaard, David ...
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show more...
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Scheurer, Michae ...
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Lau, Ching C.
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McKean-Cowdin, R ...
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Kennedy, Rebekah ...
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Hung, Long T.
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Yee, Janis
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Margol, Ashley S ...
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Barrington-Trimi ...
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Gauderman, W. Ja ...
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Feychting, Maria
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Schüz, Joachim
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Röösli, Martin
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Kjaerheim, Krist ...
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Prochazka, Micha ...
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Adel Fahmideh, M ...
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Lannering, Birgi ...
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Schmidt, Lisbeth ...
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Johansen, Christ ...
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Sehested, Astrid
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Kuehni, Claudia
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Grotzer, Michael
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Tynes, Tore
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Eggen, Tone
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Klaeboe, Lars
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Januszkiewicz-Le ...
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Fichna, Marta
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Nowak, Jerzy
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Searles Nielsen, ...
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Asgharzadeh, Sha ...
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Mirabello, Lisa
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Hjalmars, Ulf
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Melin, Beatrice ...
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- 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 ...
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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 Neurology
- Articles in the publication
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Journal of Neuro ...
- By the university
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Umeå University
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Karolinska Institutet