Article
Characteristics of TP53 germline variants and their correlations with Li-Fraumeni syndrome or Li-Fraumeni-like syndrome in Chinese tumor patients.
Journal of genetics and genomics = Yi chuan xue bao - 1 Jul 2022
Tian Panwen, Zhang Xiaoyan, Yang Sheng, Fang Yu, Yuan Hongling, Li Wei, Zhu Honglin, Zhao Fangping, Ding Jinlei, Zhu Yunshu, Wang Sizhen, Sun Guochen, Ni Hongbin, Ma Tonghui, Lei Ting
Abstract excerpt
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...
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