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| Mutations of the human E-cadherin (CDH1) gene |
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| Author(s): Berx G, Becker KF, Hofler H, van Roy F |
| Source: HUMAN MUTATION Volume: 12 Issue: 4 Pages: 226-237 Published: 1998 |
| Times Cited: 290 References: 71 |
| Abstract: The cell-cell adhesion molecule E-cadherin is well known to act as a strong invasion suppressor in experimental tumor cell systems. Frequent inactivating mutations have been identified for the E-cadherin gene (CDH1) in diffuse gastric cancers and lobular breast cancers. To date, 69 somatic mutations have been reported comprising, in addition to few missense mutations, mainly splice site mutations and truncation mutations caused by insertions, deletions, and nonsense mutations. Interestingly, there is a major difference in mutation type between diffuse gastric and infiltrative lobular breast cancers. In diffuse gastric tumors, the predominant defects are exon skippings, which cause in frame deletions, By contrast, most mutations found in infiltrating lobular breast cancers are out of-frame mutations, which are predicted to yield secreted truncated E-cadherin fragments. In most cases, these mutations do occur in combination with loss of heterozygosity (LOH) of the wild type allele. Inactivating germline mutations of E-cadherin were recently reported for families with early onset diffuse gastric cancer. Also, at the early stages of sporadic lobular breast and diffuse gastric cancers, E-cadherin mutations were detected, suggesting loss of growth control by such mutations and defining E-cadherin as a true tumor suppressor for these particular tumor types. Hum Mutat 12:226-237, 1998. (C) 1998 Wiley-Liss, Inc. |
| Document Type: Article |
| Language: English |
| Reprint Address: Berx, G (reprint author), State Univ Ghent VIB, Dept Mol Biol, Mol Cell Biol Unit, Ledeganckstr 35, B-9000 Ghent, Belgium |
Addresses:
1. State Univ Ghent VIB, Dept Mol Biol, Mol Cell Biol Unit, B-9000 Ghent, Belgium
2. Tech Univ Munich, Klinikum Rechts Isar, Inst Pathol, D-81675 Munich, Germany
3. CSF Natl Res Ctr Environm & Hlth, Inst Pathol, D-85764 Neuherberg, Germany |
| Publisher: WILEY-LISS, DIV JOHN WILEY & SONS INC, 605 THIRD AVE, NEW YORK, NY 10158-0012 USA |
| Subject Category: Genetics & Heredity |
| IDS Number: 114XL |
| ISSN: 1059-7794 |
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