CDH1 (E-cadherin) Gene Mutation Analysis

Hereditary Diffuse Gastric Cancer
Early Onset Sporadic Diffuse Gastric Cancer
Lobular Breast Cancer
Signet Ring Colon Cancer

E-cadherin (epithelial cadherin, CDH1, OMIM# 192090) is a member of the cadherin family of adhesion molecules, which are transmembrane glycoproteins mediating calcium-dependent cell-cell adhesion1. Germline mutations in the CDH1 gene have been demonstrated to underlie in diffuse gastric cancer (DGC) in various ethnic backgrounds 2, 3, 4. CDH1 germ line mutations have also been identified in a small portion of early onset DGC patients without a family history 5, 6, 12. Associations between CDH1 germ line mutations and both lobular breast cancer and signet ring carcinoma of the colon have been reported in DGC families 7, 8, 9. DGC is a highly penetrant autosomal dominant disorder that has been reported to occur in many ethnicities. The offspring of an affected individual has a 50% risk of also being affected. The estimated cumulative risk of gastric cancer by age 80 years is 67% (95% CI: 39-99) for men and 83% (95% CI: 58-99) for women10. Women also have a 39% risk for lobular breast cancer10. Germline truncating CDH1 mutations are found in 48% of families with multiple cases of diffuse gastric cancer7.

To open a presentation of the spectrum of CDH1 gene mutations and related cancers or a printable assay summary, click the links below.

CDH1 Gene Mutation and Related Cancer Spectrum
CDH1 Gene Mutation Analysis Assay Summary
(in portable document format (pdf) which requires Adobe® Acrobat® Reader™ to view or print; download latest version free)

Please submit the Test Request Form (TRF) and the CDH1 Patient Information Form when ordering this test.

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  3. Gayther, S.A. et al. Cancer Res 1998; 58:4086–89
  4. Oliveira, C. et al. Hum Mutat 2002;19:510–17
  5. Suriano, G. et al. Hum Mol Genet 2003;12:575–82.
  6. Keller, G.J. et al. Med Genet 2004;41:e89
  7. Brooks-Wilson, A.R. et al. (2004) J Med Genet 41:508-17
  8. Keller, G. et al. Am J Pathol 1999;155:337–42
  9. Yoon, K.A. et al. J Hum Genet 1999;44:177–80
  10. Pharoah, P.D. et al. Gastroenterology 2001;121:1348-53
  12. Bacani, J.T. et al. J Med Genet. 2006; 43:867-72.
  13. Oliveira C. et al. Hum Mol Genet 2009 Jan 24. [Epub ahead of print]