Article
Prevalence of low-penetrant germline TP53 D49H mutation in Japanese cancer patients.
Biomedical research (Tokyo, Japan) - 1 Jan 2016
Yamaguchi Ken, Urakami Kenichi, Nagashima Takeshi, Shimoda Yuji, Ohnami Shumpei, Ohnami Sumiko, Ohshima Keiichi, Mochizuki Tohru, Hatakeyama Keiichi, Serizawa Masakuni, Akiyama Yasuto, Maruyama Kouji, Katagiri Hirohisa, Ishida Yuji, Takahashi Kaoru, Nishimura Seiichiro, Terashima Masanori, Kawamura Taiichi, Kinugasa Yusuke, Yamakawa Yushi, Onitsuka Tetsuro, Ohde Yasuhisa, Sugino Takashi, Ito Ichiro, Matsubayashi Hiroyuki, Horiuchi Yasue, Mizuguchi Maki, Yamazaki Mutsumi, Inoue Kengo, Wakamatsu Kimiko, Sugiyama Misato, Uesaka Katsuhiko, Kusuhara Masatoshi
Abstract excerpt
Using whole exome sequencing data obtained from 1,685 Japanese cancer patients, we examined genetic variations of germline TP53 and found 10 types of non-synonymous single nucleotide variants. In the present study, we focused on 6 patients with germline D49H mutation located in the transactivation domain 2 of p53 protein, since the mutation seemed to be prevalent in cancer patients and to be pathogenic. According...
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