Journal Article

Familial gastric cancer: clinicopathological characteristics, RER phenotype and germline <i>p53</i> and <i>E-cadherin</i> mutations

Kazuya Shinmura, Takashi Kohno, Mina Takahashi, Atsushi Sasaki, Atsushi Ochiai, Parry Guilford, Airlie Hunter, Anthony E. Reeve, Haruhiko Sugimura, Naohito Yamaguchi and Jun Yokota

in Carcinogenesis

Volume 20, issue 6, pages 1127-1131
Published in print June 1999 | ISSN: 0143-3334
Published online June 1999 | e-ISSN: 1460-2180 | DOI:
Familial gastric cancer: clinicopathological characteristics, RER phenotype and germline p53 and E-cadherin mutations

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Gastric cancer frequently occurs in family members with hereditary non-polyposis colorectal cancer (HNPCC) and Li–Fraumeni syndrome (LFS) and germline E-cadherin mutations were recently identified in a subset of familial gastric cancers. Thus, families with an aggregation of gastric cancers were recruited by reviewing the genealogical trees of 3632 patients with gastric cancer. The criteria for recruiting such families were the following: at least three relatives should have gastric cancer and one of them should be a first degree relative of the other two; at least two successive generations should be affected; in one of the relatives gastric cancer should be diagnosed before age 50. Thirty-one cases (0.9%) fitted all three of these criteria. There were only gastric cancer patients in 18 of the 31 families and there were no families that fitted clinical criteria of HNPCC or LFS. Paraffin-embedded tissues were available in 29 probands and DNA was successfully isolated for molecular analyses in 13 probands. RER phenotype was detected in three (23%) cases, whereas germline p53 mutations were detected in none of 13 cases. A germline E-cadherin mutation was detected in one of three diffuse types and none of 10 intestinal types, however, a mutation resulting in the replacement of Gly by Val was detected in the precursor sequence. Thus, although familial clustering of gastric cancer occurs in ~1% of gastric cancer patients, germline mutations of the DNA mismatch repair, p53 and E-cadherin genes do not significantly contribute to such a clustering.

Keywords: HNPCC, hereditary non-polyposis colorectal cancer; LFS, Li–Fraumeni syndrome; RER, replication error; SSCP, single-strand conformation polymorphism.

Journal Article.  3596 words.  Illustrated.

Subjects: Clinical Cytogenetics and Molecular Genetics

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