Nature Communications (Aug 2022)
A common deletion at BAK1 reduces enhancer activity and confers risk of intracranial germ cell tumors
- 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
Affiliations
- Kyuto Sonehara
- Department of Statistical Genetics, Osaka University Graduate School of Medicine
- Yui Kimura
- Division of Neuro-Oncology, Children’s Cancer Center, National Center for Child Health and Development
- Yoshiko Nakano
- Division of Brain Tumor Translational Research, National Cancer Center Research Institute
- Tatsuya Ozawa
- Division of Brain Tumor Translational Research, National Cancer Center Research Institute
- Meiko Takahashi
- Center for Genomic Medicine, Kyoto University Graduate School of Medicine
- Ken Suzuki
- Department of Statistical Genetics, Osaka University Graduate School of Medicine
- Takashi Fujii
- Department of Neurosurgery, National Defense Medical College
- Yuko Matsushita
- Department of Neurosurgery, Juntendo University School of Medicine
- Arata Tomiyama
- Department of Neurosurgery, National Defense Medical College
- Toshihiro Kishikawa
- Department of Statistical Genetics, Osaka University Graduate School of Medicine
- Kenichi Yamamoto
- Department of Statistical Genetics, Osaka University Graduate School of Medicine
- Tatsuhiko Naito
- Department of Statistical Genetics, Osaka University Graduate School of Medicine
- Tomonari Suzuki
- Department of Neuro-Oncology/Neurosurgery, Saitama Medical University International Medical Center
- Shigeru Yamaguchi
- Department of Neurosurgery, Faculty of Medicine, Hokkaido University
- Tomoru Miwa
- Department of Neurosurgery, Keio University School of Medicine
- Hikaru Sasaki
- Department of Neurosurgery, Keio University School of Medicine
- Masashi Kitagawa
- Department of Neurosurgery, Shizuoka Children’s Hospital
- Naoyuki Ohe
- Department of Neurosurgery, Graduate School of Medicine, Gifu University
- Junya Fukai
- Department of Neurological Surgery, Wakayama Medical University School of Medicine
- Hideki Ogiwara
- Division of Neurosurgery, National Center for Child Health and Development
- Atsufumi Kawamura
- Department of Neurosurgery, Hyogo Prefectural Kobe Children’s Hospital
- Satoru Miyawaki
- Department of Neurosurgery, Faculty of Medicine, the University of Tokyo
- Fumihiko Matsuda
- Center for Genomic Medicine, Kyoto University Graduate School of Medicine
- Nobutaka Kiyokawa
- Department of Pediatric Hematology and Oncology Research, National Center for Child Health and Development
- Koichi Ichimura
- Division of Brain Tumor Translational Research, National Cancer Center Research Institute
- Ryo Nishikawa
- Department of Neuro-Oncology/Neurosurgery, Saitama Medical University International Medical Center
- Yukinori Okada
- Department of Statistical Genetics, Osaka University Graduate School of Medicine
- Keita Terashima
- Division of Neuro-Oncology, Children’s Cancer Center, National Center for Child Health and Development
- DOI
- https://doi.org/10.1038/s41467-022-32005-9
- Journal volume & issue
-
Vol. 13,
no. 1
pp. 1 – 9
Abstract
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.
