<b>Prevalence of low-penetrant germline </b><i><b>TP53</b></i><b> D49H mutation in Japanese cancer </b><b>patients </b>

DOI Web Site PubMed 2 Citations 21 References Open Access
  • YAMAGUCHI Ken
    Shizuoka Cancer Center Hospital 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 SRL Inc.
  • SHIMODA Yuji
    Cancer Diagnostics Research Di-vision, Shizuoka Cancer Center Research Institute 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 Division of Hepato-Biliary-Pancreatic Surgery, Shizuoka Cancer Center Hospital
  • KUSUHARA Masatoshi
    Drug Discovery and Development Division, Shizuoka Cancer Center Research Institute Regional Resources Division, Shizuoka Cancer Center Research Institute

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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>

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