A new mutation of E-cadherin gene in familial gastric linitis plastica cancer with extra-digestive dissemination
- PMID: 11434599
- DOI: 10.1097/00042737-200106000-00016
A new mutation of E-cadherin gene in familial gastric linitis plastica cancer with extra-digestive dissemination
Abstract
Over a 12-month period, we diagnosed poorly differentiated infiltrative independent-cell gastric adenocarcinoma in two brothers and one sister aged 41 to 47 years. Their father had died from antral cancer at the age of 34 years. These cancers had two characteristic clinical features: rapid course and distant malignant dissemination. In all three patients, polymerase chain reaction-sequencing of the E-cadherin (CDH1) gene of white blood cells identified a heterozygous nonsense mutation of exon 3, producing a stop codon at position 95 (Q95X), resulting in a truncated protein. The alteration of this protein, which plays a crucial role in epithelial cell adhesion, probably explains the clinical expression in this type of familial diffuse gastric cancer.
Similar articles
-
[Diagnostic image (48). Linitis plastica].Ned Tijdschr Geneeskd. 2001 Jul 28;145(30):1459. Ned Tijdschr Geneeskd. 2001. PMID: 11503315 Dutch.
-
Gastric cancer: new genetic developments.J Surg Oncol. 2005 Jun 1;90(3):114-33; discussion 133. doi: 10.1002/jso.20214. J Surg Oncol. 2005. PMID: 15895459
-
A novel truncating mutation in the E-cadherin gene in the first Iranian family with hereditary diffuse gastric cancer.Eur J Surg Oncol. 2010 Jun;36(6):559-62. doi: 10.1016/j.ejso.2010.04.001. Epub 2010 May 14. Eur J Surg Oncol. 2010. PMID: 20471195
-
[Linitis plastica].Presse Med. 2007 Dec;36(12 Pt 2):1782-6. doi: 10.1016/j.lpm.2007.03.004. Epub 2007 Jun 22. Presse Med. 2007. PMID: 17587539 Review. French.
-
The Genomic Signatures of Linitis Plastica Signal the Entrance into a New Era: Novel Approaches for Diagnosis and Treatment.Int J Mol Sci. 2023 Sep 28;24(19):14680. doi: 10.3390/ijms241914680. Int J Mol Sci. 2023. PMID: 37834127 Free PMC article. Review.
Cited by
-
A systematic review of the indications for genetic testing and prophylactic gastrectomy among patients with hereditary diffuse gastric cancer.Gastric Cancer. 2012 Sep;15 Suppl 1:S153-63. doi: 10.1007/s10120-011-0116-3. Epub 2011 Dec 10. Gastric Cancer. 2012. PMID: 22160243 Review.
-
Frequency of CDH1 germline mutations in gastric carcinoma coming from high- and low-risk areas: metanalysis and systematic review of the literature.BMC Cancer. 2012 Jan 6;12:8. doi: 10.1186/1471-2407-12-8. BMC Cancer. 2012. PMID: 22225527 Free PMC article. Review.
-
Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria.J Med Genet. 2004 Jul;41(7):508-17. doi: 10.1136/jmg.2004.018275. J Med Genet. 2004. PMID: 15235021 Free PMC article.
-
Geographical Distribution of E-cadherin Germline Mutations in the Context of Diffuse Gastric Cancer: A Systematic Review.Cancers (Basel). 2021 Mar 12;13(6):1269. doi: 10.3390/cancers13061269. Cancers (Basel). 2021. PMID: 33809393 Free PMC article. Review.
-
Hereditary diffuse gastric cancer: translation of CDH1 germline mutations into clinical practice.Gastric Cancer. 2010 Mar;13(1):1-10. doi: 10.1007/s10120-009-0531-x. Epub 2010 Apr 7. Gastric Cancer. 2010. PMID: 20373070 Review.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical
Molecular Biology Databases
Miscellaneous