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Genetics Home Reference: your guide to understanding genetic conditions
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CDH1

Reviewed January 2014

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. This protein is found within the membrane that surrounds epithelial cells, which are the cells that line the surfaces and cavities of the body. E-cadherin belongs to a family of proteins called cadherins whose function is to help neighboring cells stick to one another (cell adhesion) 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 maturation and movement, and regulating the activity of certain genes. E-cadherin also acts as a tumor suppressor protein, which means it prevents cells from growing and dividing too rapidly or in an uncontrolled way.

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 an inherited cancer disorder called hereditary diffuse gastric cancer (HDGC) (described below).

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 turn off (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 spread (metastasize) to other parts of the body.

hereditary diffuse gastric cancer - increased risk from variations of the CDH1 gene

More than 120 mutations in the CDH1 gene have been identified in people with an inherited cancer disorder called hereditary diffuse gastric cancer (HDGC). People with CDH1 gene mutations associated with HDGC have an approximately 70 percent chance of developing stomach (gastric) cancer in their lifetimes. Women with these mutations also have about a 60 percent chance of developing lobular breast cancer. People with HDGC caused by CDH1 gene mutations are born with one mutated copy of the gene in each cell. An additional mutation that impairs the normal copy of the CDH1 gene is needed for cancer to develop. This mutation is a somatic mutation and is present only in cancer cells.

The mutations that cause HDGC often lead to the production of an abnormally short, nonfunctional version of the E-cadherin protein or lead to the production of a protein with an altered structure. The loss of normal E-cadherin prevents it from acting as a tumor suppressor, contributing to the uncontrollable growth and division of cells. A lack of E-cadherin impairs cell adhesion, increasing the likelihood that cancer cells will invade the stomach wall and metastasize as small clusters of cancer cells into nearby tissues. In combination, the inherited and somatic mutations lead to a lack of functional E-cadherin and result in HDGC.

other cancers - increased risk from variations of the CDH1 gene

Somatic CDH1 gene mutations are associated with an increased risk of other cancers, including cancers of the lining of the uterus (endometrium), ovaries, or prostate. These CDH1 gene mutations are thought to result in a nonfunctional E-cadherin protein.

A loss of functional E-cadherin in these cells prevents tumor suppression and cell adhesion, leading to rapid cell growth and metastasis. It is unclear why CDH1 gene mutations affect certain tissues and not others.

Where is the CDH1 gene located?

Cytogenetic Location: 16q22.1

Molecular Location on chromosome 16: base pairs 68,737,291 to 68,835,540

The CDH1 gene is located on the long (q) arm of chromosome 16 at position 22.1.

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 68,737,291 to base pair 68,835,540 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.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the CDH1 gene or gene products?

  • Arc-1
  • CADH1_HUMAN
  • cadherin 1, E-cadherin (epithelial)
  • cadherin 1, type 1
  • calcium-dependent adhesion protein, epithelial
  • CAM 120/80
  • CD324
  • CDHE
  • cell-CAM 120/80
  • ECAD
  • E-cadherin
  • LCAM
  • liver cell adhesion molecule
  • UVO
  • uvomorulin

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 ; calcium ; cancer ; cell ; cell adhesion ; DNA ; endometrium ; epithelial ; family history ; gastric ; gene ; metastasis ; metastasize ; molecule ; mutation ; promoter ; prostate ; protein ; somatic mutation ; stomach ; tumor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • 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)
  • Carneiro P, Fernandes MS, Figueiredo J, Caldeira J, Carvalho J, Pinheiro H, Leite M, Melo S, Oliveira P, Simões-Correia J, Oliveira MJ, Carneiro F, Figueiredo C, Paredes J, Oliveira C, Seruca R. E-cadherin dysfunction in gastric cancer--cellular consequences, clinical applications and open questions. FEBS Lett. 2012 Aug 31;586(18):2981-9. doi: 10.1016/j.febslet.2012.07.045. Epub 2012 Jul 25. Review. (http://www.ncbi.nlm.nih.gov/pubmed/22841718?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)
  • Figueiredo J, Söderberg O, Simões-Correia J, Grannas K, Suriano G, Seruca R. The importance of E-cadherin binding partners to evaluate the pathogenicity of E-cadherin missense mutations associated to HDGC. Eur J Hum Genet. 2013 Mar;21(3):301-9. doi: 10.1038/ejhg.2012.159. Epub 2012 Aug 1. (http://www.ncbi.nlm.nih.gov/pubmed/22850631?dopt=Abstract)
  • Gene Review: Hereditary Diffuse Gastric Cancer (http://www.ncbi.nlm.nih.gov/books/NBK1139/)
  • 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)
  • Oliveira C, Pinheiro H, Figueiredo J, Seruca R, Carneiro F. E-cadherin alterations in hereditary disorders with emphasis on hereditary diffuse gastric cancer. Prog Mol Biol Transl Sci. 2013;116:337-59. doi: 10.1016/B978-0-12-394311-8.00015-7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/23481202?dopt=Abstract)
  • 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)

 

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 healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: January 2014
Published: April 17, 2014