<b>Prevalence of low-penetrant germline </b><i><b>TP53</b></i><b> D49H mutation in Japanese cancer </b><b>patients </b>
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- YAMAGUCHI Ken
- Shizuoka Cancer Center Hospital Shizuoka Cancer Center Research Institute
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- URAKAMI Kenichi
- Cancer Diagnostics Research Di-vision, Shizuoka Cancer Center Research Institute
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- NAGASHIMA Takeshi
- Cancer Diagnostics Research Di-vision, Shizuoka Cancer Center Research Institute SRL Inc.
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- SHIMODA Yuji
- Cancer Diagnostics Research Di-vision, Shizuoka Cancer Center Research Institute SRL Inc.
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- OHNAMI Shumpei
- Cancer Diagnostics Research Di-vision, Shizuoka Cancer Center Research Institute
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- OHNAMI Sumiko
- Cancer Diagnostics Research Di-vision, Shizuoka Cancer Center Research Institute
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- OHSHIMA Keiichi
- Medical Genetics Division, Shizuoka Cancer Center Research Institute
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- MOCHIZUKI Tohru
- Medical Genetics Division, Shizuoka Cancer Center Research Institute
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- HATAKEYAMA Keiichi
- Medical Genetics Division, Shizuoka Cancer Center Research Institute
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- SERIZAWA Masakuni
- Drug Discovery and Development Division, Shizuoka Cancer Center Research Institute
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- AKIYAMA Yasuto
- Immunotherapy Division, Shizuoka Cancer Center Research Institute
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- MARUYAMA Kouji
- Experimental Animal Facility, Shizuoka Cancer Center Research Institute
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- KATAGIRI Hirohisa
- Division of Orthopedic Oncology, Shizuoka Cancer Center Hospital
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- ISHIDA Yuji
- Division of Pediatrics, Shizuoka Cancer Center Hospital
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- TAKAHASHI Kaoru
- Division of Breast Surgery, Shizuoka Cancer Center Hospital
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- NISHIMURA Seiichiro
- Division of Breast Surgery, Shizuoka Cancer Center Hospital
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- TERASHIMA Masanori
- Division of Gas-tric Surgery, Shizuoka Cancer Center Hospital
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- KAWAMURA Taiichi
- Division of Gas-tric Surgery, Shizuoka Cancer Center Hospital
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- KINUGASA Yusuke
- Division of Colon and Rectal Surgery, Shizuoka Cancer Center Hospital
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- YAMAKAWA Yushi
- Division of Colon and Rectal Surgery, Shizuoka Cancer Center Hospital
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- ONITSUKA Tetsuro
- Division of Head and Neck Surgery, Shizuoka Cancer Center Hospital
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- OHDE Yasuhisa
- Division of Thoracic Surgery, Shizuoka Cancer Center Hospital
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- SUGINO Takashi
- Division of Pathology, Shizuoka Cancer Center Hospital
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- ITO Ichiro
- Division of Pathology, Shizuoka Cancer Center Hospital
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- MATSUBAYASHI Hiroyuki
- Division of Endoscopy, Shizuoka Cancer Center Hospital
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- HORIUCHI Yasue
- Division of Genetic Counseling, Shizuoka Cancer Center Hospital
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- MIZUGUCHI Maki
- Office of the Project HOPE, Shizuoka Cancer Center
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- YAMAZAKI Mutsumi
- Medical library, Shizuoka Cancer Center
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- INOUE Kengo
- Pharma Valley Center
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- WAKAMATSU Kimiko
- Office for Patient’s Information Protection, Shizuoka Cancer Center Hospital
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- SUGIYAMA Misato
- Office for Patient’s Information Protection, Shizuoka Cancer Center Hospital
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- UESAKA Katsuhiko
- Office for Patient’s Information Protection, Shizuoka Cancer Center Hospital Division of Hepato-Biliary-Pancreatic Surgery, Shizuoka Cancer Center Hospital
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- KUSUHARA Masatoshi
- Drug Discovery and Development Division, Shizuoka Cancer Center Research Institute Regional Resources Division, Shizuoka Cancer Center Research Institute
Bibliographic Information
- Other Title
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- Prevalence of low-penetrant germline TP53 D49H mutation in Japanese cancer patients
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Abstract
<p>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 to the initial survey for family history of the proband with the germline TP53 D49H mutation, one osteosarcoma patient and his pedigree fulfill the criteria for Li-Fraumeni-like syndrome and the 2009 Chompret criteria for germline TP53 mutation screening. Since this patient possesses double germline mutations of TP53 D49H and A159D, further studies are required to evaluate contribution of the D49H mutation in this morbidity. The remaining 5 patients had family histories of cancer, but none fulfills the criteria either for the Li-Fraumeni/Li-Fraumeni-like syndromes or the 2009 Chompret criteria for germline TP53 mutation screening. It is possible to postulate that the germline TP53 D49H mutation is likely to be low-penetrant in some pedigrees. The present study also indicates that the survey for the germline TP53 mutation plays an important role in clinical practice as it will prevent mistaking cancer patients with unusual heredities for sporadic cases.</p>
Journal
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- Biomedical Research
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Biomedical Research 37 (4), 259-264, 2016
Biomedical Research Press
