维普中文期刊产品整合服务

Characteristics of TP53 germline variants and their correlations with Li-Fraumeni syndrome or Li-Fraumeni-like syndrome in Chinese tumor patients

查看全文 作　　者：Panwen [1]Tian;Xiaoyan [1]Zhang;Sheng [3]Yang;Yu [2]Fang;Hongling [2]Yuan;Wei [2]Li;Honglin [2]Zhu;Fangping [2]Zhao;Jinlei [4]Ding;Yunshu [3]Zhu;Sizhen [5]Wang;Guochen [6]Sun;Hongbin [7]Ni;Tonghui [2]Ma;Ting [4]Lei 高影响力作者 机构地区：[1]Department of Respiratory and Critical Care Medicine,Lung Cancer Treatment Center,West China Hospital,Sichuan University,Chengdu,Sichuan 610041,China;[2]Department of Translational Medicine,Genetron Health(Beijing)Technology,Co.Ltd.,Beijing 102206,China;[3]National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing 100005,China;[4]Department of Thoracic Surgery,The Second Hospital of Dalian Medical University,Dalian,Liaoning 116023,China;[5]Genetron Health(Beijing)Technology,Co.Ltd.,Beijing 102206,China;[6]Department of Neurosurgery,The First Medical Center of PLA General Hospital,Beijing 100853,China;[7]Department of Neurosurgery,Nanjing Drum Tower Hospital(Nanjing Gulou Yi Yuan),The Affiliated Hospital of Nanjing University Medical School,Nanjing 210008,China高影响力机构 出　　处：《Journal of Genetics and Genomics》索引2022年第49卷第7期,共9页高影响力期刊 摘　　要：Li-Fraumeni syndrome(LFS),a rare autosomal-dominant inheritance condition,is associated with a family cancer history as well as pathogenic/likely-pathogenic TP53 germline variants(P/LP TP53 GV).The current clinical methods for detecting LFS are limited.Here,we retrospectively investigate P/LP TP53 GV among Chinese cancer patients by next-generation sequencing and evaluate its relationship with a family cancer history.A total of 270 out of 19,226 cancer patients have TP53 GV,including 53 patients with P/LP TP53 GV.Patients with P/LP TP53 GV are mainly found in male with glioma,lung cancer or sarcoma.The median age of diagnosis for P/LP TP53 GV patients is significantly lower than that of non-P/LP TP53 GV patients(31-years vs.53-years;P<0.01).One LFS patient and 3 Li-Fraumeni-like syndrome(LFL)patients are among the 26 followed-up P/LP TP53 GV patients.Among 25 types of P/LP TP53 GV,the highest variant frequencies occurred at codon 175 and 248.p.M237 I,p.R158 H,p.C238 Y and p.C275 R,are firstly identified among the Chinese LFS/LFL patients.This study reports the(P/LP)TP53 GV characteristics of Chinese pan-cancer patients.These findings suggest analyzing the P/LP TP53 GV in cancer patients is an effective strategy for identifying cancer predisposition syndrome. 关 键 词：Li-Fraumeni syndrome TP53 germline variants PATHOGENIC Likely-pathogenic Family cancer history
相关文献

参考文献(39)

引证文献(2)

耦合文献(27)

网站首页 | 关于我们 | 联系我们 | 产品服务 | 客服中心 | 广告服务 | 版权声明 | 网站联盟 | 友情链接 | 售卡网点

版权所有© 渝B2-20050021-1　渝公网安备 50019002500403号　违法和不良信息举报中心

互联网出版许可证 新出网证(渝)字10号 全国400电话 - 免长途话费