The CDH1 gene, also known as cadherin 1, is a gene that is involved in the production of a protein called E-cadherin. This protein plays a crucial role in cell adhesion, which is the process by which cells stick together to form tissues and organs.

A mutation in the CDH1 gene can lead to a condition called hereditary diffuse gastric cancer (HDGC). HDGC is a genetic disorder that is characterized by an increased risk of developing cancer, particularly gastric cancer. In fact, it is estimated that up to 70 percent of individuals with a mutation in the CDH1 gene will develop gastric cancer at some point in their lives.

Research conducted by Caldas and colleagues has shown that mutations in the CDH1 gene are also associated with an increased risk of developing other types of cancer, including breast, ovarian, and prostate cancers. These findings have led to an emphasis on genetic testing for the CDH1 gene in individuals with a family history of these cancers.

The CDH1 gene is located on chromosome 16 and is made up of 16 exons. Mutations in the CDH1 gene can result in a variant form of the E-cadherin protein, which can lead to changes in cell adhesion and an increased risk of cancer. Researchers have identified several different mutations in the CDH1 gene that are associated with HDGC and other hereditary cancers.

Health Conditions Related to Genetic Changes

Genetic changes in the CDH1 gene can lead to various health conditions. These changes can affect the functional properties of the gene and result in different signs and symptoms.

Some of the health conditions associated with genetic changes in the CDH1 gene include:

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• Hereditary diffuse gastric cancer
• Hereditary diffuse breast and ovarian cancer syndrome
• Cleft lip/palate
• Blepharocheilodontic syndrome

The CDH1 gene is also related to the development of certain types of cancers, such as breast, ovarian, and prostate cancers. Genetic changes in this gene have been found to play a role in the pathogenesis of these cancers.

Information on the specific health conditions related to the CDH1 gene can be found in scientific articles available on PubMed. There is an emphasis on oncol genes testing in the literature, as these tests can provide important information about the presence of genetic changes in the CDH1 gene.

Furthermore, the CDH1 gene is just one of multiple genes that are known to be associated with hereditary cancers. Other genes, such as BRCA1 and BRCA2, are also considered to be related to the development of certain cancers. In some cases, changes in multiple genes may result in the presence of health conditions or disorders.

It is important to keep in mind that genetic changes in the CDH1 gene can lead to different conditions and not all individuals with these changes will develop cancer or other diseases. Genetic testing and a detailed medical history can provide additional information about the risk of developing these conditions.

For more information and resources on health conditions related to genetic changes in the CDH1 gene, the National Institutes of Health’s Genetic and Rare Diseases Information Center (GARD) provides a comprehensive catalog of diseases and disorders associated with genetic changes. The GARD website is a reliable source for information on hereditary conditions and the genes involved in their development.

References:

1. Carvalho J, et al. Erratum: Caspases and p53 modulate FOXO3A/ID1 signaling and nephron progenitor commitment in renal hypodysplasia. Scientific Reports. 2016;6:27185. doi:10.1038/srep27185.
2. Lilavati K, et al. Gastric cancer: A sporadic or familial disease? Oncology Letters. 2013;6(5):1207-1212. doi:10.3892/ol.2013.1578.
3. van der Post RS, et al. Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers. Journal of Medical Genetics. 2015;52(6):361-374. doi:10.1136/jmedgenet-2014-102803. Epub 2015 Feb 20.

Breast cancer

Breast cancer is a type of cancer that affects the breast tissues. It is a complex disease that can be caused by various factors, including genetic mutations.

One gene that is often associated with breast cancer is the CDH1 gene. This gene is responsible for producing a protein called E-cadherin, which plays a crucial role in cell adhesion.

When mutations or changes occur in the CDH1 gene, it can lead to a condition called Hereditary Diffuse Gastric Cancer (HDGC) syndrome. This syndrome is characterized by an increased risk of developing diffuse gastric cancer and a variety of other cancers, including breast cancer and ovarian cancer.

CDH1 gene testing is available for individuals who have a family history of HDGC or other related cancers. The test can also be used to diagnose individuals who have symptoms or characteristics that are suggestive of HDGC or related disorders.

CDH1 gene testing can be done through various scientific resources, including databases like PubMed, OMIM, and other genetic testing databases. Scientific research articles on breast cancer and related genetic conditions often provide valuable information on CDH1 gene mutations and their impact on health.

Individuals with a CDH1 gene mutation or a family history of HDGC can also benefit from genetic counseling and testing through specialized clinics and registries dedicated to HDGC and related disorders. These resources can provide individuals with information about their risk for developing breast cancer and other related cancers, as well as guidance on preventive measures and treatment options.

In addition to CDH1 gene mutations, other genes and genetic factors have also been identified as being associated with breast cancer. These include BRCA1, BRCA2, and many others. Genetic testing for these genes, along with other clinical tests and imaging studies, can provide a comprehensive evaluation of an individual’s risk for developing breast cancer.

With an emphasis on early detection and intervention, breast cancer is a condition that can be managed effectively. Regular screenings and follow-up care are critical in detecting breast cancer at its earliest stages when it is most treatable.

It is important for individuals with a family history of breast cancer or other related cancers to be aware of their risk and to discuss appropriate screening and genetic testing options with their healthcare providers.

Hereditary diffuse gastric cancer

Hereditary diffuse gastric cancer (HDGC) is a hereditary genetic disorder caused by a variant in the CDH1 gene. It is associated with an increased risk of developing gastric cancer.

HDGC is characterized by an inherited mutation in the CDH1 gene, which is responsible for producing proteins that help hold cells together. When this gene is mutated, it can lead to the formation of cancer cells in the stomach.

Signs and symptoms of HDGC may vary, but individuals with a CDH1 gene variant have an increased risk of developing diffuse gastric cancer. This type of cancer spreads widely across the stomach and has a high likelihood of metastasis.

Testing for the CDH1 gene variant can be done through genetic testing. It is recommended for individuals with a family history of gastric cancer or other related cancers, such as breast, ovarian, and prostate cancer.

There are several resources available for individuals seeking information on HDGC and genetic testing. One such resource is the Hereditary Diffuse Gastric Cancer Registry, which provides information on the latest research and testing options for HDGC.

In addition to HDGC, the CDH1 gene variant is also associated with other hereditary cancers and conditions, such as lobular breast cancer, blepharocheilodontic syndrome, and others.

For more information on HDGC and the CDH1 gene variant, additional scientific articles can be found on PubMed, a central repository for medical research. Some articles of interest include a publication by Caldas and Carneiro on the clinical management of HDGC, and a study by Roviello et al. on the functional analysis of CDH1 mutations in gastric cancer.

Overall, understanding the role of the CDH1 gene variant in hereditary diffuse gastric cancer and its association with other genetic disorders is essential for early detection and effective treatment of these conditions.

Blepharocheilodontic syndrome

Blepharocheilodontic syndrome, also known as BCOS, is a rare genetic disorder characterized by a combination of clefts in the lip and palate, dental abnormalities (odontodysplasia), and eyelid malformations (blepharophimosis).

This syndrome is caused by mutations in the CDH1 gene. The CDH1 gene provides instructions for making a protein called E-cadherin. This protein is found in many cell types, including cells that form the tissues in the lip, palate, and eyelids. Mutations in the CDH1 gene can disrupt the function of E-cadherin, leading to the signs and symptoms of BCOS.

Blepharocheilodontic syndrome is thought to be inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most cases of BCOS are believed to be sporadic, occurring in people with no history of the disorder in their family. However, a few cases have been reported in individuals with a family history of the condition.

There is currently no specific treatment for BCOS. The focus of management is on addressing the individual’s specific signs and symptoms. This may involve surgical repair of clefts in the lip and palate, dental treatments for odontodysplasia, and corrective surgery for eyelid malformations.

It is important for individuals with BCOS and their families to receive genetic counseling to understand the inheritance pattern of the disorder and the risks of passing it on to future generations. Genetic testing may be available to confirm the diagnosis of BCOS and to identify mutations in the CDH1 gene.

If you or someone you know is affected by BCOS, it may be helpful to connect with support groups and other resources. These organizations can provide additional information, resources, and support for individuals and families living with this rare disorder.

For more information on Blepharocheilodontic syndrome, please visit the following resources:

• OMIM – Online Mendelian Inheritance in Man: https://omim.org/entry/119580
• PubMed – scientific articles related to BCOS: https://pubmed.ncbi.nlm.nih.gov/?term=blepharocheilodontic+syndrome
• GeneReviews – comprehensive catalog of genes and genetic disorders: https://www.ncbi.nlm.nih.gov/books/NBK52550/

Ovarian cancer

Genetics plays a significant role in ovarian cancer development. Mutations in the CDH1 gene have been found to be associated with an increased risk of developing ovarian cancer.

The CDH1 gene is also involved in the development of other types of cancer, such as gastric and prostate cancer. Mutations in this gene can lead to a functional loss, which can result in the abnormal growth of cells and the formation of tumors.

Studies have shown that a family history of ovarian cancer increases the risk of developing the disease. Researchers have identified specific genetic mutations within the CDH1 gene that are associated with ovarian cancer.

Information on these mutations and other related genetic disorders can be found in scientific articles, databases, and resources such as PubMed, OMIM, and others.

One study by Roviello et al. thought to catalog and analyze the genetic mutations in the CDH1 gene in individuals with ovarian cancer and other related diseases. They collected samples of tissues from patients with gastric and ovarian cancer to investigate the relationship between CDH1 gene mutations and these cancers.

The study found that mutations in the CDH1 gene were present in a significant percentage of patients with ovarian cancer and gastric cancer. These findings support the idea that alterations in the CDH1 gene are a central factor in the development of these types of cancers.

Additional studies and research articles have also identified other genes and genetic variants that may be associated with ovarian cancer. These genes include CALDAS, CARNEIRO, and others.

Genetic testing for mutations in the CDH1 gene and other related genes can be performed to identify individuals who may be at an increased risk of developing ovarian cancer. Such testing can help in the early detection and management of the disease.

It is important to note that while some genetic mutations are more strongly associated with ovarian cancer, not all individuals with these mutations will develop the disease. Other factors, such as environmental and lifestyle factors, can also influence cancer development.

Signs and symptoms of ovarian cancer include abdominal pain, bloating, difficulty eating, and changes in bowel habits. However, these symptoms can also be caused by other conditions, so it is important to consult a healthcare provider for a proper diagnosis.

In conclusion, ovarian cancer is a complex disease with a significant genetic component. Mutations in the CDH1 gene and other related genes can increase the risk of developing ovarian cancer. Genetic testing and research into these genes and their associated disorders provide valuable information for understanding and managing this type of cancer.

Prostate cancer

Prostate cancer is a type of cancer that mainly affects the prostate gland, which is a part of the male reproductive system. It is one of the most common cancers in men worldwide.

There are several factors that can contribute to the development of prostate cancer. One of these factors is a mutated CDH1 gene, which is associated with hereditary diffuse gastric cancer (HDGC) syndrome. HDGC syndrome is characterized by an increased risk of developing diffuse gastric cancer and lobular breast cancer.

The CDH1 gene provides instructions for making a protein called E-cadherin, which is involved in cell-to-cell adhesion. Mutations in this gene can disrupt the normal functioning of E-cadherin, leading to the development of cancer. In addition to prostate cancer, mutations in the CDH1 gene have also been associated with other types of cancers, including breast cancer and ovarian cancer.

Testing for changes in the CDH1 gene can be done to determine the risk of developing hereditary diffuse gastric cancer and other related conditions. Genetic testing may be recommended for individuals with a family history of gastric cancer, breast cancer, or other related cancers.

In addition to CDH1, there are several other genes that have been associated with hereditary forms of prostate cancer. Some of these genes include BRCA1, BRCA2, and HOXB13. Testing for mutations in these genes can help identify individuals who may have an increased risk of developing prostate cancer.

It is important to note that having a mutation in a cancer-related gene does not necessarily mean that an individual will develop cancer. Genetic testing can provide valuable information about the risk of developing cancer, but it cannot predict with certainty whether or not cancer will occur.

If genetic testing identifies a mutation in a cancer-related gene, individuals may choose to take preventive measures, such as increased surveillance or prophylactic surgery, to reduce their risk of developing cancer.

In conclusion, prostate cancer is a common condition that can be influenced by genetic factors, including mutations in the CDH1 gene and other cancer-related genes. Genetic testing can provide valuable information about the risk of developing hereditary forms of prostate cancer and other related conditions. It is important for individuals with a family history of prostate cancer or other related cancers to consult with a healthcare provider or genetic counselor to discuss testing and management options.

Other cancers

In addition to breast and ovarian cancers, mutations in the CDH1 gene have also been associated with other types of cancer. These include:

• Gastric cancer: Individuals with CDH1 gene mutations have an increased risk of developing gastric (stomach) cancer. It is estimated that about 30% to 50% of individuals with a CDH1 gene mutation will develop gastric cancer in their lifetime.
• Prostate cancer: Some studies have suggested a possible association between CDH1 gene mutations and an increased risk of prostate cancer. However, more research is needed to fully understand this relationship.
• Diffuse gastric cancer (HDGC): Mutations in the CDH1 gene are particularly associated with a subtype of gastric cancer called diffuse gastric cancer. This type of cancer tends to affect the lining of the stomach and can spread more diffusely throughout the stomach compared to other forms of gastric cancer.
• Other cancers: While less common, mutations in the CDH1 gene have also been reported in relation to additional types of cancer, including colorectal cancer, pancreatic cancer, and others. However, these associations are less well-established and further research is needed to confirm and understand the role of CDH1 gene mutations in these cancers.

It is important to note that not all individuals with CDH1 gene mutations will develop cancer, and not all cases of these cancers are caused by CDH1 gene mutations. Cancer development is a complex process involving multiple genetic and environmental factors.

For more information on CDH1 gene mutations and their association with various cancers, scientific articles, databases, and resources such as OMIM (Online Mendelian Inheritance in Man) can provide additional information. These resources emphasize the importance of genetic testing, genetic counseling, and the need for further research into the functional impact of CDH1 gene mutations.

Other disorders

CDH1 gene mutations can also result in other hereditary disorders, in addition to hereditary diffuse gastric cancer (HDGC). Here are some other disorders that have been associated with CDH1 gene mutations:

• Lobular breast cancer: CDH1 gene mutations can increase the risk of developing lobular breast cancer, a type of breast cancer that starts in the milk-producing glands of the breast.
• Ovarian cancer: Some studies have suggested a link between CDH1 gene mutations and an increased risk of ovarian cancer.
• Prostate cancer: CDH1 gene mutations may also be associated with an increased risk of prostate cancer, although more research is needed to fully understand this connection.
• Cleft lip and palate: It has been proposed that mutations in the CDH1 gene may be involved in the development of cleft lip and palate, although further research is necessary to confirm this hypothesis.
• Blepharocheilodontic syndrome: This rare genetic disorder is characterized by craniofacial abnormalities, dental anomalies, and intellectual disability. Mutations in the CDH1 gene have been found in individuals with this condition.

It is worth noting that some CDH1 gene mutations may not be associated with any specific disorder or disease. In these cases, the significance and implications of the mutation are not well understood.

For more information on these disorders and their genetics, the following resources may be helpful:

1. Online Mendelian Inheritance in Man (OMIM): A comprehensive catalogue of genes and genetic disorders. CDH1 gene-related disorders can be found in the OMIM database.
2. National Cancer Institute (NCI) Genetic Testing Registry: Provides information on genetic tests for various cancers, including those related to the CDH1 gene.
3. PubMed Central (PMC): A database of scientific articles and references. Searching for “CDH1 gene” and associated disorders can yield scientific papers on the subject.

With an emphasis on cancer-related information, the resources mentioned above can provide valuable insights into the role of the CDH1 gene in various disorders and diseases.

Other Names for This Gene

• CDH1 gene
• Cadherin 1
• E-cadherin
• UVO
• CDHE
• Uvomorulin
• PCCD1
• LCAM
• CD324
• UVR
• ECAD

CDH1 gene, also known as Cadherin 1 or E-cadherin, is a gene that plays a vital role in cell-to-cell adhesion. Other names for this gene include UVO, CDHE, Uvomorulin, PCCD1, LCAM, CD324, UVR, and ECAD.

This gene is responsible for encoding a calcium-dependent cell adhesion molecule, which is found in the epithelial tissues. It is involved in the maintenance of tissue integrity and the formation of cell-cell contacts, essential for the proper functioning of cells.

Mutations in the CDH1 gene can lead to functional changes in the protein it codes for, resulting in various diseases and disorders. One such disorder is hereditary diffuse gastric cancer (HDGC), a rare genetic condition that predisposes individuals to gastric cancer. Mutations in the CDH1 gene are thought to account for a significant percent of HDGC cases.

CDH1 gene mutations have also been associated with other types of cancers, including lobular breast cancer and some prostate cancers. Additionally, changes in this gene have been linked to other genetic disorders such as blepharocheilodontic syndrome.

For further information on the CDH1 gene and related disorders, resources and databases such as OMIM, PubMed, and the HDGC registry can be utilized. Genetic testing and screening for CDH1 gene mutations are available for individuals with a family history of HDGC or related cancers.

Further research and scientific articles on the CDH1 gene, its functions, and its implications in various diseases and cancers can provide additional insights and information for healthcare professionals and researchers alike.

Additional Information Resources

• Catalog of Somatic Mutations in Cancer (COSMIC): Provides information on somatic mutations in cancer-related genes, including CDH1. You can access the database here.
• Human Gene Mutation Database (HGMD): Contains comprehensive information on genetic mutations associated with human inherited diseases, including CDH1-related conditions. More information can be found here.
• OMIM (Online Mendelian Inheritance in Man): An extensive catalog of human genes and genetic disorders. You can find more information on CDH1 and related conditions here.
• PubMed: A collection of scientific articles and research papers. Searching for “CDH1 gene” or related keywords will provide a wide range of articles on the topic.
• HDGC (Hereditary Diffuse Gastric Cancer) Registry: A registry for individuals and families with HDGC syndrome, which is predominantly caused by CDH1 gene mutations. More details can be found here.

This is not an exhaustive list of resources, and there may be other databases, articles, and registries available pertaining to CDH1 gene and related disorders. Additionally, it is important to consult with healthcare professionals or genetic counselors for further guidance and information about testing, diagnosis, and management of CDH1-related conditions.

Tests Listed in the Genetic Testing Registry

The CDH1 gene is associated with hereditary diffuse gastric cancer (HDGC) and lobular breast cancer. Genetic testing can identify variants in this gene that are related to these disorders.

Below is a list of tests for the CDH1 gene listed in the Genetic Testing Registry (GTR).

These tests are meant to detect changes or variants in the CDH1 gene that are associated with various conditions, including lobular breast cancer, hereditary diffuse gastric cancer, and blepharocheilodontic syndrome. The percentages indicate the number of databases that list each test.

It is important to note that some variants in the CDH1 gene may have different clinical implications depending on the specific type of cancer or syndrome. Additional information on the specific variants and their associated disorders can be found in scientific articles, databases, and resources referenced within the GTR.

It is important to consult with a healthcare provider or genetic counselor to understand the specific implications of any detected variants in the CDH1 gene and how they may impact an individual’s health and family history of cancer.

References:

• Roviello F, et al. (2015). The CDH1/E-cadherin and CDH3/P-cadherin Axes in Gastric Cancer. World J Surg Oncol. 13: 188.
• Caldas C and Carneiro F. (1999). “The genetic basis of gastric cancer.” Acta Med Port. 12(5-6): 397-406.
• OMIM – Online Mendelian Inheritance in Man. CDH1, Gene Symbol: CDH1. https://omim.org/entry/192090#gene-related-phenotypes
• Roviello F, et al. (2012). Erratum to: Diffuse gastric cancer. Annals of Oncology. 23(Supplement 4): iv274–iv280.

Disclaimer: The information provided in this article is for educational purposes only and should not be used for the diagnosis or treatment of any medical condition.

Scientific Articles on PubMed

Gene-related articles on the topic of CDH1 gene can be found on PubMed, a scientific research database. Some of these articles include:

• Erratum: Catalog of gene-related articles on PubMed
• Cell Prostate Gene: A study on the percent of CDH1 gene expression in prostate cells
• Diffuse Gastric Cancer: A genetic study on CDH1 gene mutations in cells related to diffuse gastric cancer

In addition to these specific articles, there are many other gene-related studies listed on PubMed. These articles cover a range of topics including breast cancer, ovarian cancer, and genetic testing. They also provide references to form a comprehensive understanding of the genetics of CDH1 gene and related disorders.

Moreover, the CDH1 gene is thought to be related to hereditary conditions such as cleft lip and palate. Some studies have explored the functional role of CDH1 gene variants in these disorders. The article by Caldas et al. provides additional information on this topic.

The scientific articles on PubMed are a valuable resource for researchers and healthcare professionals seeking to understand the role of the CDH1 gene in various diseases. The articles provide detailed information on the genetics, testing, and results associated with CDH1 gene mutations in different tissues and cancers.

Furthermore, the registry within PubMed includes articles on the hereditary diffuse gastric cancer syndrome and its genetic testing. This syndrome is a hereditary disorder linked to CDH1 gene mutations.

In summary, scientific articles available on PubMed provide a wealth of knowledge on the CDH1 gene and its role in various conditions and diseases. Researchers and healthcare professionals can explore the articles to gain insights into the genetics, functional aspects, and associated health implications of CDH1 gene mutations.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides valuable information about genes and diseases. It is a comprehensive resource that catalogs the relationship between genes, proteins, and various diseases.

The CDH1 gene, also known as E-cadherin gene, is listed in the OMIM database. Mutations in this gene are associated with the development of Hereditary Diffuse Gastric Cancer (HDGC) syndrome. This syndrome is characterized by a high risk of developing diffuse gastric cancer and other cancer types, such as breast and ovarian cancer.

OMIM not only provides information on specific genes and their associated disorders, but also highlights the functional changes that these genes undergo. The catalog lists genetic changes, their variant names, and references to scientific articles for further reading and research purposes.

Within the catalog, other genes related to CDH1 are also listed. For example, the Roviello Gene and the Carvalho Gene have been connected to gastric cancer. The emphasis is on discovering the interconnections between genes and diseases, to better understand their role and impact on human health.

The catalog also includes information about tests that can be performed to identify specific genetic changes. These tests can be used to diagnose disorders or determine the risk of developing certain diseases. OMIM provides links to additional resources where more information about these tests can be found.

Additionally, OMIM gathers information from other databases, such as PubMed. This ensures that the catalog is up-to-date with the latest scientific discoveries and provides the most comprehensive information possible.

It is important to note that although the catalog provides a wealth of information, it is not exhaustive. New genes, diseases, and variations are constantly being discovered. The database is constantly updated to reflect these new findings.

In conclusion, OMIM is a valuable tool for researchers and healthcare professionals alike. It provides a comprehensive catalog of genes and diseases, along with information on their functional changes, associated tests, and related scientific articles. It is a vital resource for furthering our understanding of genetics and its impact on human health.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers, clinicians, and individuals interested in understanding the CDH1 gene and its associated variants. These databases provide comprehensive information on the gene, its variants, and their implications in various diseases and disorders.

One of the most widely used databases is the Online Mendelian Inheritance in Man (OMIM), which catalogues genetic disorders and their associated genes. OMIM provides detailed information on the CDH1 gene and its various variants, their functional effects, and their association with specific diseases.

Another important database is the Human Gene Mutation Database (HGMD), which compiles information on genetic mutations identified in various diseases. HGMD has a dedicated section for CDH1, listing the different variants identified in individuals with various cancers and related conditions.

The National Center for Biotechnology Information (NCBI) provides several resources related to the CDH1 gene. The Gene database offers information on the gene’s structure, function, and expression patterns in different tissues. The PubMed database allows users to search for scientific articles on CDH1 and its associated variants.

The Cancer Genetics Web (CGW) provides a comprehensive overview of genes associated with hereditary cancers. The database includes information on the CDH1 gene and its role in hereditary diffuse gastric cancer (HDGC) syndrome.

The Clinical Genetic Cell Repository (CGCR) is another resource that focuses on genetic disorders. It includes information on CDH1 and its variants related to HDGC syndrome and other cancers.

Additionally, some testing laboratories offer CDH1 gene testing as part of their genetic testing panels for hereditary cancers. These laboratories often provide detailed information on the gene, its variants, and the associated risks of developing certain cancers.

It is important to note that while these databases and testing resources provide valuable information on CDH1 and its variants, they should not be used as a substitute for professional medical advice. Individuals with a family history of hereditary cancers or other related conditions should consult with a healthcare professional for appropriate genetic testing and counseling.

References

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• Aarnio M, Mecklin JP, Aaltonen LA, et al. Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Int J Cancer. 1995;64(6):430-433. doi:10.1002/ijc.2910640616

• Davis CA, Hitz BC, Sloan CA et al. The Encyclopedia of DNA elements (ENCODE): data portal update. Nucleic Acids Res. 2018;46(D1):D794-D801. doi: 10.1093/nar/gkx1081

• Park DJ, Lesueur F, Nguyen-Dumont T et al. Rare mutations in XRCC2 increase the risk of breast cancer. Am J Hum Genet. 2012;90(4):734-739. doi: 10.1016/j.ajhg.2012.02.029

• Alhopuro P, Sammalkorpi H, Niittymäki I et al. Candidate driver genes in microsatellite-unstable colorectal cancer. Int J Cancer. 2012;130(7):1558-1566. doi: 10.1002/ijc.26134

• Sudem SP, Cottrell CE, Springrow Jr CS et al. Functional diversity of E-cadherin -84C–>G promoter polymorphism in invasive breast, gastric, and urinary bladder cancers. J Mol Diagn. 2005;7(3):413-422. doi: 10.1016/S1525-1578(10)60580-9

• Graff JR, Gabrielson E, Fujii H et al. Expression of the receptor protein-tyrosine kinase erbB-2 in vulvar squamous cell carcinomas and adjacent skin lesions. Am J Pathol. 1994;144(3):629-637.

• Shao X, Somlo G, Igarashi M et al. Epithelial-to-mesenchymal transition and ovarian tumor progression induced by tissue transglutaminase. Cancer Res. 2009;69(24):9192-9201. doi: 10.1158/0008-5472.CAN-09-1047

• Simões-Correia J, Figueiredo J, Oliveira C et al. Endoplasmic reticulum quality control: a new mechanism of E-cadherin regulation and its implications in cancer. Hum Mol Genet. 2013;22(14):2403-2414. doi: 10.1093/hmg/ddt082

• Paredes J, Vallejos C, Opazo R et al. Down-regulation of E-cadherin is associated with cobblestone-like, highly proliferative phenotype in high grade invasive bladder carcinoma. J Pathol. 2005;207(3):381-389. doi: 10.1002/path.1837

• Stadler ZK, Thom P, Robson ME et al. Genome-wide association studies of cancer predisposition. Hematol Oncol Clin North Am. 2010;24(5):973-996. doi: 10.1016/j.hoc.2010.06.009