1. ATP53-truncating germline mutation (E287X) in a family with characteristics of both hereditary diffuse gastric cancer and Li-Fraumeni syndrome.
- Author
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Kim, Il-Jin, Kang, Hio, Shin, Yong, Park, Hye-Won, Jang, Sang-Geun, Han, Song-Yee, Lim, Sun-Kyung, Lee, Min, Chang, Hee, Ku, Ja-Lok, Yang, Han-Kwang, and Park, Jae-Gahb
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GASTROINTESTINAL diseases , *GENETIC mutation , *P53 antioncogene , *BRAIN tumors , *SARCOMA , *PHENOTYPES - Abstract
Mutations inCDH1, 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 theTP53gene, which encodes p53 and has been previously associated with Li-Fraumeni Syndrome (LFS). To determine whether mutations inTP53are associated with FGC in Asians, we screened the entire coding region ofTP53in probands from 23 Korean FGC families. We identified a nonsense (E287X)TP53germline 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 E287XTP53mutation 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 thatTP53mutational screening in FGC families should be interpreted with caution because additionalTP53mutation-carrying HDGC families may also show LFS-related phenotypes. [ABSTRACT FROM AUTHOR]
- Published
- 2004
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