文献

J-GLOBAL ID：201602284264637351   整理番号：16A1395451

日本人癌患者における低浸透性生殖系列TP53 D49H変異の保有率

Prevalence of low-penetrant germline TP53 D49H mutation in Japanese cancer patients

著者 (38件)： YAMAGUCHI Ken (Shizuoka Cancer Center Hospital) ,  YAMAGUCHI Ken (Shizuoka Cancer Center Research Institute) ,  URAKAMI Kenichi (Cancer Diagnostics Research Di-vision, Shizuoka Cancer Center Research Institute) ,  NAGASHIMA Takeshi (Cancer Diagnostics Research Di-vision, Shizuoka Cancer Center Research Institute) ,  NAGASHIMA Takeshi (SRL Inc.) ,  SHIMODA Yuji (Cancer Diagnostics Research Di-vision, Shizuoka Cancer Center Research Institute) ,  SHIMODA Yuji (SRL Inc.) ,  OHNAMI Shumpei (Cancer Diagnostics Research Di-vision, Shizuoka Cancer Center Research Institute) ,  OHNAMI Sumiko (Cancer Diagnostics Research Di-vision, Shizuoka Cancer Center Research Institute) ,  OHSHIMA Keiichi (Medical Genetics Division, Shizuoka Cancer Center Research Institute) ,  MOCHIZUKI Tohru (Medical Genetics Division, Shizuoka Cancer Center Research Institute) ,  HATAKEYAMA Keiichi (Medical Genetics Division, Shizuoka Cancer Center Research Institute) ,  SERIZAWA Masakuni (Drug Discovery and Development Division, Shizuoka Cancer Center Research Institute) ,  AKIYAMA Yasuto (Immunotherapy Division, Shizuoka Cancer Center Research Institute) ,  MARUYAMA Kouji (Experimental Animal Facility, Shizuoka Cancer Center Research Institute) ,  KATAGIRI Hirohisa (Division of Orthopedic Oncology, Shizuoka Cancer Center Hospital) ,  ISHIDA Yuji (Division of Pediatrics, Shizuoka Cancer Center Hospital) ,  TAKAHASHI Kaoru (Division of Breast Surgery, Shizuoka Cancer Center Hospital) ,  NISHIMURA Seiichiro (Division of Breast Surgery, Shizuoka Cancer Center Hospital) ,  TERASHIMA Masanori (Division of Gas-tric Surgery, Shizuoka Cancer Center Hospital) ,  KAWAMURA Taiichi (Division of Gas-tric Surgery, Shizuoka Cancer Center Hospital) ,  KINUGASA Yusuke (Division of Colon and Rectal Surgery, Shizuoka Cancer Center Hospital) ,  YAMAKAWA Yushi (Division of Colon and Rectal Surgery, Shizuoka Cancer Center Hospital) ,  ONITSUKA Tetsuro (Division of Head and Neck Surgery, Shizuoka Cancer Center Hospital) ,  OHDE Yasuhisa (Division of Thoracic Surgery, Shizuoka Cancer Center Hospital) ,  SUGINO Takashi (Division of Pathology, Shizuoka Cancer Center Hospital) ,  ITO Ichiro (Division of Pathology, Shizuoka Cancer Center Hospital) ,  MATSUBAYASHI Hiroyuki (Division of Endoscopy, Shizuoka Cancer Center Hospital) ,  HORIUCHI Yasue (Division of Genetic Counseling, Shizuoka Cancer Center Hospital) ,  MIZUGUCHI Maki (Office of the Project HOPE, Shizuoka Cancer Center) ,  YAMAZAKI Mutsumi (Medical library, Shizuoka Cancer Center) ,  INOUE Kengo (Pharma Valley Center) ,  WAKAMATSU Kimiko (Office for Patient’s Information Protection, Shizuoka Cancer Center Hospital) ,  SUGIYAMA Misato (Office for Patient’s Information Protection, Shizuoka Cancer Center Hospital) ,  UESAKA Katsuhiko (Office for Patient’s Information Protection, Shizuoka Cancer Center Hospital) ,  UESAKA Katsuhiko (Division of Hepato-Biliary-Pancreatic Surgery, Shizuoka Cancer Center Hospital) ,  KUSUHARA Masatoshi (Regional Resources Division, Shizuoka Cancer Center Research Institute) ,  KUSUHARA Masatoshi (Drug Discovery and Development Division, Shizuoka Cancer Center Research Institute)
資料名： Biomedical Research  (Biomedical Research)
巻： 37  号： 4  ページ： 259-264(J-STAGE)  発行年： 2016年 
JST資料番号： Z0236B  ISSN： 0388-6107  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： 日本 (JPN)  言語： 英語 (EN)

抄録/ポイント： 1685人の日本人癌患者から得られた全エキソームシークエンシ...

シソーラス用語： *塩基対置換 ,...
準シソーラス用語： *非同義置換 ,...

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分類 (2件)： 腫ようの診断  (GE03020J) ,  分子遺伝学一般  (EC02010J)

引用文献 (25件)：

• 1 Bieging KT, Mello SS and Attardi LD (2014) Unravelling mechanisms of p53-mediated tumour suppression. Nat Rev Cancer 14, 359-370.
• 2 Enciso-Mora V, Hosking FJ, Di Stefano AL, Zelenika D, Shete S, et al. (2013) Low penetrance susceptibility to glioma is caused by the TP53 variant rs78378222. Br J Cancer 108, 2178-2185.
• 3 Exome Aggregation Consortium (ExAC) (URL: http://exac. broadinstitute.org) (Version 0.3.1).
• 4 Forbes SA, Beare D, Gunasekaran P, Leung K, Bindal N, et al. (2015) COSMIC: exploring the world’s knowledge of somatic mutations in human cancer. Nucleic Acids Res 43, D805-811 (URL:http://cancer.sanger.ac.uk/cosmic). 17.
• 5 Gonzalez KD, Buzin CH, Noltner KA, Gu D, Li W, et al. (2009) High frequency of de novo mutations in Li-Fraumeni syndrome. J Med Genet 46, 689-693.

タイトルに関連する用語 (7件)： 日本人 ,  癌患者 ,  浸透性 ,  生殖系列 ,  TP53 ,  変異 ,  保有率