Reviewed August 2007
What is the official name of the CDH1 gene?
The official name of this gene is “cadherin 1, type 1, E-cadherin (epithelial).”
CDH1 is the gene's official symbol. The CDH1 gene is also known by other names, listed below.
What is the normal function of the CDH1 gene?
The CDH1 gene provides instructions for making a protein called epithelial cadherin or E-cadherin. Cadherins are a group of proteins on the surface of cells that help neighboring cells stick to one another (cell adhesion). These proteins bind cells together to form organized tissues.
E-cadherin is one of the best-understood cadherin proteins. In addition to its role in cell adhesion, E-cadherin is involved in transmitting chemical signals within cells, controlling cell movement, and regulating the activity of certain genes. Researchers believe that E-cadherin also acts as a tumor suppressor gene, preventing cells from growing and dividing in an uncontrolled way to form a cancerous tumor. Because this protein helps cells stick together, it may keep cancer cells from detaching from a tumor, traveling through the bloodstream, and invading other tissues (metastasizing).
Does the CDH1 gene share characteristics with other genes?
The CDH1 gene belongs to a family of genes called CD (CD molecules). It also belongs to a family of genes called CDH (cadherin superfamily).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
How are changes in the CDH1 gene related to health conditions?
- breast cancer - increased risk from variations of the CDH1 gene
Inherited mutations in the CDH1 gene increase a woman's risk of developing a form of breast cancer that begins in the milk-producing glands (lobular breast cancer). In many cases, this increased risk occurs as part of a cancer syndrome called hereditary diffuse gastric cancer (HDGC). This condition is characterized by a very high risk of developing cancer of the stomach lining as well as an increased risk of lobular breast cancer.
Some gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes, which are called somatic mutations, are not inherited. Studies have shown that somatic CDH1 mutations occur commonly in cases of lobular breast cancer in women without a family history of the disease. Some of these genetic changes occur within the gene itself, while others inactivate a region of nearby DNA that controls the gene's activity. Researchers believe that the resulting loss of E-cadherin may allow cells to grow and divide unchecked. A lack of this protein, which is critical for cell adhesion, may also make it easier for cancer cells to detach from a primary tumor and metastasize to other parts of the body.
- other cancers - increased risk from variations of the CDH1 gene
More than 50 mutations in the CDH1 gene have been identified in people with an inherited cancer syndrome called hereditary diffuse gastric cancer. This disorder greatly increases the chance of developing cancer of the stomach lining, most often in a person's late thirties or early forties. This disorder also increases the risk of other forms of cancer, particularly lobular breast cancer in women. Most inherited CDH1 mutations lead to the production of an abnormally short, nonfunctional version of the E-cadherin protein. Researchers have not yet determined why a loss of E-cadherin is more likely to be associated with stomach cancer and lobular breast cancer than other types of tumors.
Where is the CDH1 gene located?
Cytogenetic Location: 16q22.1
Molecular Location on chromosome 16: base pairs 68,771,127 to 68,869,444
The CDH1 gene is located on the long (q) arm of chromosome 16 at position 22.1.
More precisely, the CDH1 gene is located from base pair 68,771,127 to base pair 68,869,444 on chromosome 16.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about CDH1?
You and your healthcare professional may find the following resources about CDH1 helpful.
Educational resources - Information pages
- Developmental Biology (sixth edition, 2000): Cadherins and cell adhesion (http://www.ncbi.nlm.nih.gov/books/NBK10021/)
- Molecular Biology of the Cell (fourth Edition, 2002): Cadherins Have Crucial Roles in Development (http://www.ncbi.nlm.nih.gov/books/NBK26937/)
- National Cancer Institute: Genetics of Breast and Ovarian Cancer (PDQ) (http://www.cancer.gov/cancertopics/pdq/genetics/breast-and-ovarian)
- National Cancer Institute: What You Need to Know About Stomach Cancer (http://www.cancer.gov/cancertopics/wyntk/stomach)
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1139/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for CDH1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=999%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((CDH1%5BTIAB%5D)%20OR%20(E-cadherin%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%20360%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/192090)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_CDH1.html)
- Cancer Genetics Web (http://www.cancerindex.org/geneweb/CDH1.htm)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=999)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=1748)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/999)
What other names do people use for the CDH1 gene or gene products?
- cadherin 1, E-cadherin (epithelial)
- cadherin 1, type 1
- calcium-dependent adhesion protein, epithelial
- CAM 120/80
- cell-CAM 120/80
- liver cell adhesion molecule
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding CDH1?
adhesion molecule ;
cell adhesion ;
family history ;
tumor suppressor gene
You may find definitions for these and many other terms in the Genetics Home Reference
- Bacani JT, Soares M, Zwingerman R, di Nicola N, Senz J, Riddell R, Huntsman DG, Gallinger S. CDH1/E-cadherin germline mutations in early-onset gastric cancer. J Med Genet. 2006 Nov;43(11):867-72. Epub 2006 Jun 26. (http://www.ncbi.nlm.nih.gov/pubmed/16801346?dopt=Abstract)
- Caldeira JR, Prando EC, Quevedo FC, Neto FA, Rainho CA, Rogatto SR. CDH1 promoter hypermethylation and E-cadherin protein expression in infiltrating breast cancer. BMC Cancer. 2006 Mar 2;6:48. (http://www.ncbi.nlm.nih.gov/pubmed/16512896?dopt=Abstract)
- Carneiro F, Oliveira C, Suriano G, Seruca R. Molecular pathology of familial gastric cancer, with an emphasis on hereditary diffuse gastric cancer. J Clin Pathol. 2008 Jan;61(1):25-30. Epub 2007 May 18. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17513507?dopt=Abstract)
- Chan AO. E-cadherin in gastric cancer. World J Gastroenterol. 2006 Jan 14;12(2):199-203. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16482618?dopt=Abstract)
- Gene Review: Hereditary Diffuse Gastric Cancer (http://www.ncbi.nlm.nih.gov/books/NBK1139/)
- Kaurah P, MacMillan A, Boyd N, Senz J, De Luca A, Chun N, Suriano G, Zaor S, Van Manen L, Gilpin C, Nikkel S, Connolly-Wilson M, Weissman S, Rubinstein WS, Sebold C, Greenstein R, Stroop J, Yim D, Panzini B, McKinnon W, Greenblatt M, Wirtzfeld D, Fontaine D, Coit D, Yoon S, Chung D, Lauwers G, Pizzuti A, Vaccaro C, Redal MA, Oliveira C, Tischkowitz M, Olschwang S, Gallinger S, Lynch H, Green J, Ford J, Pharoah P, Fernandez B, Huntsman D. Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. JAMA. 2007 Jun 6;297(21):2360-72. Epub 2007 Jun 3. (http://www.ncbi.nlm.nih.gov/pubmed/17545690?dopt=Abstract)
- More H, Humar B, Weber W, Ward R, Christian A, Lintott C, Graziano F, Ruzzo AM, Acosta E, Boman B, Harlan M, Ferreira P, Seruca R, Suriano G, Guilford P. Identification of seven novel germline mutations in the human E-cadherin (CDH1) gene. Hum Mutat. 2007 Feb;28(2):203. (http://www.ncbi.nlm.nih.gov/pubmed/17221870?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/999)
- Park D, Kåresen R, Axcrona U, Noren T, Sauer T. Expression pattern of adhesion molecules (E-cadherin, alpha-, beta-, gamma-catenin and claudin-7), their influence on survival in primary breast carcinoma, and their corresponding axillary lymph node metastasis. APMIS. 2007 Jan;115(1):52-65. (http://www.ncbi.nlm.nih.gov/pubmed/17223851?dopt=Abstract)
- Suriano G, Yew S, Ferreira P, Senz J, Kaurah P, Ford JM, Longacre TA, Norton JA, Chun N, Young S, Oliveira MJ, Macgillivray B, Rao A, Sears D, Jackson CE, Boyd J, Yee C, Deters C, Pai GS, Hammond LS, McGivern BJ, Medgyesy D, Sartz D, Arun B, Oelschlager BK, Upton MP, Neufeld-Kaiser W, Silva OE, Donenberg TR, Kooby DA, Sharma S, Jonsson BA, Gronberg H, Gallinger S, Seruca R, Lynch H, Huntsman DG. Characterization of a recurrent germ line mutation of the E-cadherin gene: implications for genetic testing and clinical management. Clin Cancer Res. 2005 Aug 1;11(15):5401-9. (http://www.ncbi.nlm.nih.gov/pubmed/16061854?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.