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儿童遗传性肿瘤易感综合征和TP53 基因种系突变

  • 唐月佳 ,
  • 高怡瑾
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  • 上海交通大学附属上海儿童医学中心血液与肿瘤科(上海 200127)

收稿日期: 2016-05-15

  网络出版日期: 2016-05-15

Pediatric inherited cancer predisposition syndromes and TP53 germ-line mutation

  • TANG Yuejia ,
  • GAO Yijin
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  • Department of Hematology/Oncology, Shanghai Children’s Medical Center Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200127, China

Received date: 2016-05-15

  Online published: 2016-05-15

摘要

儿童遗传性肿瘤易感综合征是由于肿瘤相关基因的种系突变所导致的一类遗传性疾病,患者具有明显的肿瘤易感倾向。TP53基因的种系突变占到所有遗传性肿瘤的20%~30%,是最常见的肿瘤突变基因。通过对TP53基因的检测,可以帮助临床医师更好的对遗传性肿瘤患者及家庭成员进行管理。

本文引用格式

唐月佳 , 高怡瑾 . 儿童遗传性肿瘤易感综合征和TP53 基因种系突变[J]. 临床儿科杂志, 2016 , 34(5) : 333 . DOI: 10.3969 j.issn.1000-3606.2016.05.004

Abstract

Pediatric inherited cancer predisposition syndromes are a group of diseases caused by germ-line mutation of cancer related genes. The patients are susceptible to cancers. TP53 germ-line mutation is the most commonly seen mutant gene in cancers that accounts for 20%-30% of all germ-line mutations of inherited cancers. TP53 gene mutation screening could help clinicians to better manage the patients and their family members.
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