CDH1 Truncating Mutations in the E-Cadherin Gene

Norton, Jeffrey A.; Ham, Christine M.; Dam, Jacques Van; Jeffrey, R. Brooke; Longacre, Teri A.; Huntsman, David G.; Chun, Nicolette M.; Kurian, Allison W.; Ford, James M.

doi:10.1097/01.sla.0000254370.29893.e4

Cited by 160 publications

(36 citation statements)

References 45 publications

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“…These recently identified gene mutations are symptomatically identified by diffuse gastric carcinoma, endometrial cancer, ovarian cancer, and lobular breast carcinomas 55–58. Lifetime risks for these mutations (chromosome 16q) are approximately 70%–80% for gastric cancer and 40%–60% for breast carcinomas in women 59,60. The prognosis of upper gastric carcinomas is poor, with only a 10% survival rate over a 5-year period, decreasing to 4% for total stomach involvement 55,57.…”

Section: E-cadherin Hereditary Diffuse Gastric Cancermentioning

confidence: 99%

“…The prognosis of upper gastric carcinomas is poor, with only a 10% survival rate over a 5-year period, decreasing to 4% for total stomach involvement 55,57. Compiling information on this rare disease has shown that around 25%–30% of hereditary diffuse gastric cancers are associated with a familial mutation in the CDH1 gene 59,60. Reduced life expectancy is assumed, as undiagnosed late-stage gastric cancer has a high mortality rate of <20% 5-year survival 60,61.…”

Section: E-cadherin Hereditary Diffuse Gastric Cancermentioning

confidence: 99%

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Reduced life expectancy seen in hereditary diseases which predispose to early-onset tumors

Evans

Ingham²

2013

TACG

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There are several hereditary diseases that are a predisposition to early-onset tumors. These include syndromic conditions like neurofibromatosis 1 and 2, von Hippel-Lindau syndrome, Gorlin syndrome, multiple endocrine neoplasia, and familial adenomatous polyposis; and conditions which are usually not possible to diagnose clinically in a single individual, such as Lynch syndrome and BRCA1/2. Understanding of the mortality in hereditary cancer predisposing diseases is important for developing effective disease treatment programs. A number of studies have been undertaken to investigate the genetic predictors, prevalence and incidence, and treatment outcomes of these diseases; however, the majority examine only the most common of these diseases (eg, neurofibromatosis or BRCA), or look into postoperative survival. The mortality of individuals who are diagnosed with one of these hereditary diseases remains an area for investigation. This review is the first to attempt identification of studies investigating life expectancy in hereditary diseases which predispose to early-onset tumors.

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Section: E-cadherin Hereditary Diffuse Gastric Cancermentioning

confidence: 99%

Section: E-cadherin Hereditary Diffuse Gastric Cancermentioning

confidence: 99%

Reduced life expectancy seen in hereditary diseases which predispose to early-onset tumors

Evans

Ingham²

2013

TACG

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“…Although a number of genetic alterations have been identified in gastric cancer, including those in cadherin 1 (CDH1) (8,9), β-catenin (10), CDH17 (11) and Met (12), no study has distinguished these alterations by anatomical subsite. A number of previous gene expression profiling studies have also ignored the differences in diverse anatomical subsite (11,13,14), such as in GCA and GNCA.…”

Section: Introductionmentioning

confidence: 99%

Comparative analysis of gene expression profiles of gastric cardia adenocarcinoma and gastric non-cardia adenocarcinoma

Song

Deng

et al. 2016

Oncology Letters

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In the present study, gene expression profiles were analyzed to identify the molecular mechanisms underlying gastric cardia adenocarcinoma (GCA) and gastric non-cardia adenocarcinoma (GNCA). A gene expression dataset (accession number GSE29272) was downloaded from Gene Expression Omnibus, and consisted of 62 GCA samples and 62 normal controls, as well as 72 GNCA samples and 72 normal controls. The two groups of differentially-expressed genes (DEGs) were compared to obtain common and unique DEGs. A differential analysis was performed using the Linear Models for Microarray Data package in R. Functional enrichment analysis was conducted for the DEGs using the Database for Annotation, Visualization and Integrated Discovery. Protein-protein interaction (PPI) networks were constructed for the DEGs with information from the Search Tool for the Retrieval of Interacting Genes. Subnetworks were extracted from the whole network with Cytoscape. Compared with the control, 284 and 268 genes were differentially-expressed in GCA and GNCA, respectively, of which 194 DEGs were common between GCA and GNCA. Common DEGs [e.g., claudin (CLDN)7, CLDN4 and CLDN3] were associated with cell adhesion and digestion. GCA-unique DEGs [e.g., MAD1 mitotic arrest deficient like 1, cyclin (CCN)B1, CCNB2 and CCNE1] were associated with the cell cycle and the regulation of cell proliferation, while GNCA-unique DEGs (e.g., GATA binding protein 6 and hyaluronoglucosaminidase 1) were implicated in cell death. A PPI network with 141 nodes and 446 edges were obtained, from which two subnetworks were extracted. Genes [e.g., fibronectin 1, collagen type I α2 chain (COL1A2) and COL1A1] from the two subnetworks were implicated in extracellular matrix organization. These common DEGs could advance our understanding of the etiology of gastric cancer, while the unique DEGs in GCA and GNCA could better define the properties of specific cancers and provide potential biomarkers for diagnosis, prognosis or therapy.

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“…Worldwide, about 100 CDH1 mutation positive families have been reported [14]. Because of the high risk of developing gastric cancer and the limited value of surveillance for high-risk lesions, prophylactic gastrectomy is advised to mutation carriers in these families [12,18]. Despite the small proportion of gastric cancer patients that originate from HDGC families, identification of these families is important in order to initiate preventive measures in these high risk individuals.…”

Section: Environmental and Inherited Factorsmentioning

confidence: 99%

Familial gastric cancer: guidelines for diagnosis, treatment and periodic surveillance

et al. 2012

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Hereditary diffuse gastric cancer (HDGC) is a relatively rare disorder, with a mutated CDH1 gene as the only known cause. Carriers of a germline mutation in CDH1 have a lifetime risk of [80% of developing diffuse gastric cancer. As periodic gastric surveillance is of limited value in detecting early stages of HDGC, prophylactic gastrectomy is advised for this patient group. Little is known about other types of familial gastric cancer. The Dutch working group on hereditary gastric cancer has formulated guidelines for various aspects of medical management for families and individuals at high risk of developing gastric cancer, including criteria for referral, classification, diagnostics, and periodic gastric surveillance. These guidelines are not limited to HDGC and are therefore partially complementary to the guidelines on hereditary diffuse gastric cancer of the international gastric cancer linkage consortium (IGCLC 2010). In order to optimize the care and increase the knowledge on hereditary gastric cancer it is important to centralize medical care for these patients. National and international collaboration is warranted to improve the quality of research by increasing the size of study cohorts.

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CDH1 Truncating Mutations in the E-Cadherin Gene

Cited by 160 publications

References 45 publications

Reduced life expectancy seen in hereditary diseases which predispose to early-onset tumors

Reduced life expectancy seen in hereditary diseases which predispose to early-onset tumors

Comparative analysis of gene expression profiles of gastric cardia adenocarcinoma and gastric non-cardia adenocarcinoma

Familial gastric cancer: guidelines for diagnosis, treatment and periodic surveillance

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