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A genome-wide association study on medulloblastoma
Umeå universitet, Medicinska fakulteten, Institutionen för strålningsvetenskaper, Onkologi.ORCID-id: 0000-0002-6754-2571
Umeå universitet, Medicinska fakulteten, Institutionen för strålningsvetenskaper, Onkologi.
Umeå universitet, Medicinska fakulteten, Institutionen för strålningsvetenskaper, Onkologi.
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2020 (Engelska)Ingår i: Journal of Neuro-Oncology, ISSN 0167-594X, E-ISSN 1573-7373Artikel i tidskrift (Refereegranskat) Epub ahead of print
Abstract [en]

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: APCBRCA2PALB2PTCH1SUFUTP53, 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.

Ort, förlag, år, upplaga, sidor
Springer, 2020.
Nyckelord [en]
Pediatric cancers, CNS cancers, Adolescents and young adults (AYA), Epidemiology, Genetics of risk, outcome, and prevention
Nationell ämneskategori
Cancer och onkologi Neurologi
Identifikatorer
URN: urn:nbn:se:umu:diva-168914DOI: 10.1007/s11060-020-03424-9ISI: 000516094000001PubMedID: 32056145OAI: oai:DiVA.org:umu-168914DiVA, id: diva2:1415032
Forskningsfinansiär
Barncancerfonden, NCS2009-0001Barncancerfonden, PR2017-0157Barncancerfonden, NC2011-0004Barncancerfonden, TJ2015-0044Cancerfonden, CAN 2018/390Vetenskapsrådet, 2016-01159_ 3NIH (National Institute of Health), P30ES007033NIH (National Institute of Health), R01CA116724NIH (National Institute of Health), R03CA106011Novo NordiskTillgänglig från: 2020-03-17 Skapad: 2020-03-17 Senast uppdaterad: 2020-03-17

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Dahlin, Anna M.Wibom, CarlAndersson, UlrikaHjalmars, UlfMelin, Beatrice S.

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