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

Journal of Human Genetics
Il-Jin KimJae-Gahb Park

Abstract

Mutations 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 coding region of TP53 in probands from 23 Korean FGC families. We identified a nonsense (E287X) TP53 germline mutation in a family whose history is compatible with both HDGC and LFS. Two members of this family (SNU-G2) were afflicted with brain tumors, seven with gastric cancers, two with sarcomas, and one with both gastric cancer and a sarcoma. The E287X TP53 mutation segregated with the cancer phenotype in the family members from whom DNA samples were available. To our knowledge, this is the first report of a large family with both HDGC and LFS. Our results suggest that TP53 mutational screening in FGC families should be interpreted with caution because additional TP53 mutation-carrying HDGC families may also show LFS-related phenotypes.

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Citations

Nov 30, 2007·Familial Cancer·Kasmintan A SchraderDavid G Huntsman
May 10, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Serena MasciariSapna Syngal
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Nov 23, 2011·Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology·Han-Kwang Yang
Jul 5, 2016·Annals of Laboratory Medicine·Kyoung Jin ParkJong Won Kim
Aug 18, 2018·International Journal of Molecular Sciences·Shamshul AnsariYoshio Yamaoka
Apr 29, 2016·Oncology Letters·Junli MaShan Zeng
Jul 5, 2005·World Journal of Gastroenterology : WJG·Il-Jin KimJae-Gahb Park

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