A common deletion at BAK1 reduces enhancer activity and confers risk of intracranial germ cell tumors
Intracranial germ cell tumors (IGCTs) are rare brain tumors mainly diagnosed in children and young adults. Here, the authors conduct a genome-wide association study for IGCTs, identify a risk locus at BAK1, and characterize its functional consequences.
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2022-08-01
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| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/s41467-022-32005-9 |
| _version_ | 1798038007402463232 |
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| author | Kyuto Sonehara Yui Kimura Yoshiko Nakano Tatsuya Ozawa Meiko Takahashi Ken Suzuki Takashi Fujii Yuko Matsushita Arata Tomiyama Toshihiro Kishikawa Kenichi Yamamoto Tatsuhiko Naito Tomonari Suzuki Shigeru Yamaguchi Tomoru Miwa Hikaru Sasaki Masashi Kitagawa Naoyuki Ohe Junya Fukai Hideki Ogiwara Atsufumi Kawamura Satoru Miyawaki Fumihiko Matsuda Nobutaka Kiyokawa Koichi Ichimura Ryo Nishikawa Yukinori Okada Keita Terashima |
| author_facet | Kyuto Sonehara Yui Kimura Yoshiko Nakano Tatsuya Ozawa Meiko Takahashi Ken Suzuki Takashi Fujii Yuko Matsushita Arata Tomiyama Toshihiro Kishikawa Kenichi Yamamoto Tatsuhiko Naito Tomonari Suzuki Shigeru Yamaguchi Tomoru Miwa Hikaru Sasaki Masashi Kitagawa Naoyuki Ohe Junya Fukai Hideki Ogiwara Atsufumi Kawamura Satoru Miyawaki Fumihiko Matsuda Nobutaka Kiyokawa Koichi Ichimura Ryo Nishikawa Yukinori Okada Keita Terashima |
| author_sort | Kyuto Sonehara |
| collection | DOAJ |
| description | Intracranial germ cell tumors (IGCTs) are rare brain tumors mainly diagnosed in children and young adults. Here, the authors conduct a genome-wide association study for IGCTs, identify a risk locus at BAK1, and characterize its functional consequences. |
| first_indexed | 2024-04-11T21:34:20Z |
| format | Article |
| id | doaj.art-d33eb878505245bfb00afac3269b5f58 |
| institution | Directory Open Access Journal |
| issn | 2041-1723 |
| language | English |
| last_indexed | 2024-04-11T21:34:20Z |
| publishDate | 2022-08-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Nature Communications |
| spelling | doaj.art-d33eb878505245bfb00afac3269b5f582022-12-22T04:01:48ZengNature PortfolioNature Communications2041-17232022-08-011311910.1038/s41467-022-32005-9A common deletion at BAK1 reduces enhancer activity and confers risk of intracranial germ cell tumorsKyuto Sonehara0Yui Kimura1Yoshiko Nakano2Tatsuya Ozawa3Meiko Takahashi4Ken Suzuki5Takashi Fujii6Yuko Matsushita7Arata Tomiyama8Toshihiro Kishikawa9Kenichi Yamamoto10Tatsuhiko Naito11Tomonari Suzuki12Shigeru Yamaguchi13Tomoru Miwa14Hikaru Sasaki15Masashi Kitagawa16Naoyuki Ohe17Junya Fukai18Hideki Ogiwara19Atsufumi Kawamura20Satoru Miyawaki21Fumihiko Matsuda22Nobutaka Kiyokawa23Koichi Ichimura24Ryo Nishikawa25Yukinori Okada26Keita Terashima27Department of Statistical Genetics, Osaka University Graduate School of MedicineDivision of Neuro-Oncology, Children’s Cancer Center, National Center for Child Health and DevelopmentDivision of Brain Tumor Translational Research, National Cancer Center Research InstituteDivision of Brain Tumor Translational Research, National Cancer Center Research InstituteCenter for Genomic Medicine, Kyoto University Graduate School of MedicineDepartment of Statistical Genetics, Osaka University Graduate School of MedicineDepartment of Neurosurgery, National Defense Medical CollegeDepartment of Neurosurgery, Juntendo University School of MedicineDepartment of Neurosurgery, National Defense Medical CollegeDepartment of Statistical Genetics, Osaka University Graduate School of MedicineDepartment of Statistical Genetics, Osaka University Graduate School of MedicineDepartment of Statistical Genetics, Osaka University Graduate School of MedicineDepartment of Neuro-Oncology/Neurosurgery, Saitama Medical University International Medical CenterDepartment of Neurosurgery, Faculty of Medicine, Hokkaido UniversityDepartment of Neurosurgery, Keio University School of MedicineDepartment of Neurosurgery, Keio University School of MedicineDepartment of Neurosurgery, Shizuoka Children’s HospitalDepartment of Neurosurgery, Graduate School of Medicine, Gifu UniversityDepartment of Neurological Surgery, Wakayama Medical University School of MedicineDivision of Neurosurgery, National Center for Child Health and DevelopmentDepartment of Neurosurgery, Hyogo Prefectural Kobe Children’s HospitalDepartment of Neurosurgery, Faculty of Medicine, the University of TokyoCenter for Genomic Medicine, Kyoto University Graduate School of MedicineDepartment of Pediatric Hematology and Oncology Research, National Center for Child Health and DevelopmentDivision of Brain Tumor Translational Research, National Cancer Center Research InstituteDepartment of Neuro-Oncology/Neurosurgery, Saitama Medical University International Medical CenterDepartment of Statistical Genetics, Osaka University Graduate School of MedicineDivision of Neuro-Oncology, Children’s Cancer Center, National Center for Child Health and DevelopmentIntracranial germ cell tumors (IGCTs) are rare brain tumors mainly diagnosed in children and young adults. Here, the authors conduct a genome-wide association study for IGCTs, identify a risk locus at BAK1, and characterize its functional consequences.https://doi.org/10.1038/s41467-022-32005-9 |
| spellingShingle | Kyuto Sonehara Yui Kimura Yoshiko Nakano Tatsuya Ozawa Meiko Takahashi Ken Suzuki Takashi Fujii Yuko Matsushita Arata Tomiyama Toshihiro Kishikawa Kenichi Yamamoto Tatsuhiko Naito Tomonari Suzuki Shigeru Yamaguchi Tomoru Miwa Hikaru Sasaki Masashi Kitagawa Naoyuki Ohe Junya Fukai Hideki Ogiwara Atsufumi Kawamura Satoru Miyawaki Fumihiko Matsuda Nobutaka Kiyokawa Koichi Ichimura Ryo Nishikawa Yukinori Okada Keita Terashima A common deletion at BAK1 reduces enhancer activity and confers risk of intracranial germ cell tumors Nature Communications |
| title | A common deletion at BAK1 reduces enhancer activity and confers risk of intracranial germ cell tumors |
| title_full | A common deletion at BAK1 reduces enhancer activity and confers risk of intracranial germ cell tumors |
| title_fullStr | A common deletion at BAK1 reduces enhancer activity and confers risk of intracranial germ cell tumors |
| title_full_unstemmed | A common deletion at BAK1 reduces enhancer activity and confers risk of intracranial germ cell tumors |
| title_short | A common deletion at BAK1 reduces enhancer activity and confers risk of intracranial germ cell tumors |
| title_sort | common deletion at bak1 reduces enhancer activity and confers risk of intracranial germ cell tumors |
| url | https://doi.org/10.1038/s41467-022-32005-9 |
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