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.M2371,p.R158H,p.C238Y and p.C275R,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.

Panwen Tian;Xiaoyan Zhang;Sheng Yang;Yu Fang;Hongling Yuan;Wei Li;Honglin Zhu;Fangping Zhao;Jinlei Ding;Yunshu Zhu;Sizhen Wang;Guochen Sun;Hongbin Ni;Tonghui Ma;Ting Lei

Department of Respiratory and Critical Care Medicine,Lung Cancer Treatment Center,West China Hospital,Sichuan University,Chengdu,Sichuan 610041,China;Department of Translational Medicine,Genetron Health(Beijing)Technology,Co.Ltd.,Beijing 102206,China;National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing 100005,China;Department of Thoracic Surgery,The Second Hospital of Dalian Medical University,Dalian,Liaoning 116023,China;Genetron Health(Beijing)Technology,Co.Ltd.,Beijing 102206,China;Department of Neurosurgery,The First Medical Center of PLA General Hospital,Beijing 100853,China;Department of Neurosurgery,Nanjing Drum Tower Hospital(Nanjing Gulou Yi Yuan),The Affiliated Hospital of Nanjing University Medical School,Nanjing 210008,China

遗传学报

[1]Panwen Tian;Xiaoyan Zhang;Sheng Yang;Yu Fang;Hongling Yuan;Wei Li;Honglin Zhu;Fangping Zhao;Jinlei Ding;Yunshu Zhu;Sizhen Wang;Guochen Sun;Hongbin Ni;Tonghui Ma;Ting Lei-.Characteristics of TP53 germline variants and their correlations with Li-Fraumeni syndrome or Li-Fraumeni-like syndrome in Chinese tumor patients)[J].遗传学报,2022(07):645-653

M2371,R158H,C238Y,C275R

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