Article
A common deletion at BAK1 reduces enhancer activity and confers risk of intracranial germ cell tumors.
Nature communications - 2 Aug 2022
Sonehara Kyuto, Kimura Yui, Nakano Yoshiko, Ozawa Tatsuya, Takahashi Meiko, Suzuki Ken, Fujii Takashi, Matsushita Yuko, Tomiyama Arata, Kishikawa Toshihiro, Yamamoto Kenichi, Naito Tatsuhiko, Suzuki Tomonari, Yamaguchi Shigeru, Miwa Tomoru, Sasaki Hikaru, Kitagawa Masashi, Ohe Naoyuki, Fukai Junya, Ogiwara Hideki, Kawamura Atsufumi, Miyawaki Satoru, Matsuda Fumihiko, Kiyokawa Nobutaka, Ichimura Koichi, Nishikawa Ryo, Okada Yukinori, Terashima Keita
Abstract excerpt
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...
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