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

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.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Kim IJ,Kang HC,Shin Y,Park HW,Jang SG,Han SY,Lim SK,Lee MR,Chang HJ,Ku JL,Yang HK,Park JG

doi

10.1007/s10038-004-0193-9

keywords:

subject

Has Abstract

pub_date

2004-01-01 00:00:00

pages

591-595

issue

11

eissn

1434-5161

issn

1435-232X

pii

10.1007/s10038-004-0193-9

journal_volume

49

pub_type

杂志文章

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