A TP53-truncating germline mutation (E287X) in a family with characteristics of both hereditary diffuse gastric cancer and Li-Fraumeni syndrome

@article{Kim2004ATG,
  title={A TP53-truncating germline mutation (E287X) in a family with characteristics of both hereditary diffuse gastric cancer and Li-Fraumeni syndrome},
  author={Il-Jin Kim and Hio Chung Kang and Yong Shin and Hye-won Park and Sang-Geun Jang and S Han and Sun-Kyung Lim and Min Ro Lee and Hee Jin Chang and Ja-Lok Ku and H. R. Yang and J L Park},
  journal={Journal of Human Genetics},
  year={2004},
  volume={49},
  pages={591-595}
}
AbstractMutations in CDH1, which encodes E-cadherin, have been associated with hereditary diffuse gastric cancer (HDGC) in Western populations but have not been shown to play a major role in Asians. Recently, a patient with familial gastric cancer (FGC) was shown to harbor a germline mutation in the TP53 gene, which encodes p53 and has been previously associated with Li-Fraumeni Syndrome (LFS). To determine whether mutations in TP53 are associated with FGC in Asians, we screened the entire… CONTINUE READING