ArticleNature communications2022
A common deletion at BAK1 reduces enhancer activity and confers risk of intracranial germ cell tumors.
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Article in Nature communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17citing papers in PubMed
4.4field-weighted citation impact, top 5% of its field
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Who cites it
17 citing papers in PubMed, 22 citations in OpenAlex.
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- Epidemiology of childhood cancer in Asia.EClinicalMedicine · 2025Review
- Genome-wide association study of childhood B-cell acute lymphoblastic leukemia reveals novel African ancestry-specific susceptibility loci.Nature communications · 2025Article
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- Germline variants and mosaic chromosomal alterations affect COVID-19 vaccine immunogenicity.Cell genomics · 2025Article
- Leveraging genome-wide association studies to better understand the etiology of cancers.Cancer science · 2025Review
- LcProt: Proteomics-based identification of plasma biomarkers for lung cancer multievent, a multicentre study.Clinical and translational medicine · 2025Article
- A deep learning model for differentiating paediatric intracranial germ cell tumour subtypes and predicting survival with MRI: a multicentre prospective study.BMC medicine · 2024Article
- Genome-wide association study on meningioma risk in Japan: a multicenter prospective study.Journal of neuro-oncology · 2024Article
- Common and rare genetic variants predisposing females to unexplained recurrent pregnancy loss.Nature communications · 2024Article
- Extracting immunological and clinical heterogeneity across autoimmune rheumatic diseases by cohort-wide immunophenotyping.Annals of the rheumatic diseases · 2024Article
- Advances in genetic abnormalities, epigenetic reprogramming, and immune landscape of intracranial germ cell tumors.Acta neuropathologica communications · 2023Review
- Cancer incidence and type of treatment hospital among children, adolescents, and young adults in Japan, 2016-2018.Cancer science · 2023Article
- Genome-wide association study identifies risk loci within the major histocompatibility complex region for Hunner-type interstitial cystitis.Cell reports. Medicine · 2023Article
Corrections and comments
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Authors and funding
28 authors at 15 institutions in 1 country.
Kyuto SoneharaDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, 565-0871, Japan.
Yui KimuraDivision of Neuro-Oncology, Children's Cancer Center, National Center for Child Health and Development, Tokyo, 157-8535, Japan.
Yoshiko NakanoDivision of Brain Tumor Translational Research, National Cancer Center Research Institute, Tokyo, 104-0045, Japan.
Tatsuya OzawaDivision of Brain Tumor Translational Research, National Cancer Center Research Institute, Tokyo, 104-0045, Japan.
Meiko TakahashiCenter for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, 606-8501, Japan.
Ken SuzukiDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, 565-0871, Japan.ORCID http://orcid.org/0000-0003-1065-3593
Takashi FujiiDepartment of Neurosurgery, National Defense Medical College, 3-2 Namiki, Tokorozawa, Saitama, 359-8513, Japan.ORCID http://orcid.org/0000-0002-2551-1144
Yuko MatsushitaDepartment of Neurosurgery, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan.
Arata TomiyamaDepartment of Neurosurgery, National Defense Medical College, 3-2 Namiki, Tokorozawa, Saitama, 359-8513, Japan.ORCID http://orcid.org/0000-0003-2944-6535
Toshihiro KishikawaDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, 565-0871, Japan.
Kenichi YamamotoDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, 565-0871, Japan.ORCID http://orcid.org/0000-0001-9594-7050
Tatsuhiko NaitoDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, 565-0871, Japan.ORCID http://orcid.org/0000-0002-2779-4600
Tomonari SuzukiDepartment of Neuro-Oncology/Neurosurgery, Saitama Medical University International Medical Center, Hidaka, 350-1298, Japan.
Shigeru YamaguchiDepartment of Neurosurgery, Faculty of Medicine, Hokkaido University, Sapporo, 060-8648, Japan.
Tomoru MiwaDepartment of Neurosurgery, Keio University School of Medicine, Tokyo, 160-8582, Japan.
Hikaru SasakiDepartment of Neurosurgery, Keio University School of Medicine, Tokyo, 160-8582, Japan.
Masashi KitagawaDepartment of Neurosurgery, Shizuoka Children's Hospital, Shizuoka, 420-8660, Japan.ORCID http://orcid.org/0000-0002-6982-1558
Naoyuki OheDepartment of Neurosurgery, Graduate School of Medicine, Gifu University, Gifu, 501-1194, Japan.ORCID http://orcid.org/0000-0002-9108-3184
Junya FukaiDepartment of Neurological Surgery, Wakayama Medical University School of Medicine, Kimiidera, 641-8509, Japan.ORCID http://orcid.org/0000-0001-7103-8493
Hideki OgiwaraDivision of Neurosurgery, National Center for Child Health and Development, Tokyo, 157-8535, Japan.
Atsufumi KawamuraDepartment of Neurosurgery, Hyogo Prefectural Kobe Children's Hospital, Kobe, 650-0047, Japan.
Satoru MiyawakiDepartment of Neurosurgery, Faculty of Medicine, the University of Tokyo, Tokyo, 113-8655, Japan.ORCID http://orcid.org/0000-0001-6369-3391
Fumihiko MatsudaCenter for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, 606-8501, Japan.
Nobutaka KiyokawaDepartment of Pediatric Hematology and Oncology Research, National Center for Child Health and Development, Tokyo, 157-8535, Japan.ORCID http://orcid.org/0000-0001-9310-2126
Koichi IchimuraDivision of Brain Tumor Translational Research, National Cancer Center Research Institute, Tokyo, 104-0045, Japan.
Ryo NishikawaDepartment of Neuro-Oncology/Neurosurgery, Saitama Medical University International Medical Center, Hidaka, 350-1298, Japan.
Yukinori OkadaDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, 565-0871, Japan. yokada@sg.med.osaka-u.ac.jp.ORCID http://orcid.org/0000-0002-0311-8472
Keita TerashimaDivision of Neuro-Oncology, Children's Cancer Center, National Center for Child Health and Development, Tokyo, 157-8535, Japan. terashima-k@ncchd.go.jp.ORCID http://orcid.org/0000-0002-1101-5924
Juntendo University · JPNational Center For Child Health and Development · JPThe University of Osaka · JPKeio University · JPKyoto University · JPSaitama Medical University · JPThe University of Tokyo · JPGifu University · JPHokkaido University · JPKobe Children's Hospital · JPOsaka Gakuin University · JPRIKEN Center for Integrative Medical Sciences · JPShizuoka Children's Hospital · JPUniversity of Tokyo Hospital · JPWakayama Medical University · JP
Funding
No grant is acknowledged in the PubMed record.
Abstract
Intracranial germ cell tumors (IGCTs) are rare brain neoplasms that mainly occur in children and adolescents with a particularly high incidence in East Asian populations. Here, we conduct a genome-wide association study (GWAS) of 133 patients with IGCTs and 762 controls of Japanese ancestry. A common 4-bp deletion polymorphism in an enhancer adjacent to BAK1 is significantly associated with the disease risk (rs3831846; P = 2.4 × 10
Indexed as
Brain NeoplasmsNeoplasms, Germ Cell and EmbryonalTesticular NeoplasmsAdolescentAllelesbcl-2 Homologous Antagonist-Killer ProteinChildGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMalePolymorphism, Single NucleotideBAK1 protein, humanbcl-2 Homologous Antagonist-Killer Protein
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What Socratic holds
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.