Hereditary Diffuse Gastric Cancer

Schrader, Kasmintan A.; Huntsman, David G.

doi:10.1007/978-1-4419-6033-7_3

Cited by 17 publications

(5 citation statements)

References 157 publications

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“…Those mutations are spread in the 16 exons of the CDH1 gene; approximately 25% of them are missense mutations and 75% are truncating mutations [27, 28]. Only in a little percentage of family affected by gastric cancer (4%) have large deletions of CDH1 gene been identified [29, 30].…”

Section: E-cadherinmentioning

confidence: 99%

Diagnostic, Predictive, Prognostic, and Therapeutic Molecular Biomarkers in Third Millennium: A Breakthrough in Gastric Cancer

Carlomagno

Incollingo

Tammaro

et al. 2017

BioMed Research International

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Introduction Gastric cancer is the fifth most common cancer and the third cause of cancer death. The clinical outcomes of the patients are still not encouraging with a low rate of 5 years' survival. Often the disease is diagnosed at advanced stages and this obviously negatively affects patients outcomes. A deep understanding of molecular basis of gastric cancer can lead to the identification of diagnostic, predictive, prognostic, and therapeutic biomarkers. Main Body This paper aims to give a global view on the molecular classification and mechanisms involved in the development of the tumour and on the biomarkers for gastric cancer. We discuss the role of E-cadherin, HER2, fibroblast growth factor receptor (FGFR), MET, human epidermal growth factor receptor (EGFR), hepatocyte growth factor receptor (HGFR), mammalian target of rapamycin (mTOR), microsatellite instability (MSI), PD-L1, and TP53. We have also considered in this manuscript new emerging biomarkers as matrix metalloproteases (MMPs), microRNAs, and long noncoding RNAs (lncRNAs). Conclusions Identifying and validating diagnostic, prognostic, predictive, and therapeutic biomarkers will have a huge impact on patients outcomes as they will allow early detection of tumours and also guide the choice of a targeted therapy based on specific molecular features of the cancer.

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Section: E-cadherinmentioning

confidence: 99%

Diagnostic, Predictive, Prognostic, and Therapeutic Molecular Biomarkers in Third Millennium: A Breakthrough in Gastric Cancer

Carlomagno

Incollingo

Tammaro

et al. 2017

BioMed Research International

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“…Analysis of families demonstrated an association between GC development and germline mutations in the E-cadherin (CDH1) gene. The CDH1 gene mutations have been scattered across the 16 exons this gene encompasses, with approximately 75 % being truncating and 25 % missense in nature [ 75 , 76 ]. Moreover, there have even been large deletions of the E-cadherin gene identified in a small percentage (4 %) of HDGC families, likely involving nonallelic homologous recombination in Alu repeat regions [ 77 ].…”

Section: E-cadherinmentioning

confidence: 99%

Gastric biomarkers: a global review

et al. 2016

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BackgroundGastric cancer is an aggressive disease with a poor 5-year survival and large global burden of disease. The disease is biologically and genetically heterogeneous with a poorly understood carcinogenesis at the molecular level. Despite the many prognostic, predictive, and therapeutic biomarkers investigated to date, gastric cancer continues to be detected at an advanced stage with resultant poor clinical outcomes.Main bodyThis is a global review of gastric biomarkers with an emphasis on HER2, E-cadherin, fibroblast growth factor receptor, mammalian target of rapamycin, and hepatocyte growth factor receptor as well as sections on microRNAs, long noncoding RNAs, matrix metalloproteinases, PD-L1, TP53, and microsatellite instability.ConclusionA deeper understanding of the pathogenesis and biological features of gastric cancer, including the identification and characterization of diagnostic, prognostic, predictive, and therapeutic biomarkers, hopefully will provide improved clinical outcomes.

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“…Aberrant expression patterns (this is, predominantly cytoplasmic) and low expression of E‐cadherin have been associated with poor prognosis in patients with several epithelial cancers, including gastric cancer , prostate cancer , pancreatic cancer , and hepatocellular carcinoma . Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant inherited form of diffuse type gastric cancer with high penetrance . Germline mutations of the CDH1 gene have been identified in approximately 25 to 50% of affected individuals.…”

Section: E‐cadherin: An Adhesion and Signaling Molecule With Essentiamentioning

confidence: 99%

E‐cadherin's role in development, tissue homeostasis and disease: Insights from mouse models

Schneider¹,

Kolligs

2014

BioEssays

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Recent studies uncovered critical roles of the adhesion protein E-cadherin in health and disease. Global inactivation of Cdh1, the gene encoding E-cadherin in mice, results in early embryonic lethality due to an inability to form the trophectodermal epithelium. To unravel E-cadherin's functions beyond development, numerous mouse lines with tissue-specific disruption of Cdh1 have been generated. The consequences of E-cadherin loss showed great variability depending on the tissue in question, ranging from nearly undetectable changes to a complete loss of tissue structure and function. This review focuses on these studies and discusses how they provided important insights into E-cadherin's role in cell adhesion, proliferation and differentiation, and its consequences for biological processes as epithelial-to-mesenchymal transition, vascularization, and carcinogenesis. Lastly, we present some perspectives and possible approaches for future research.

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Hereditary Diffuse Gastric Cancer

Cited by 17 publications

References 157 publications

Diagnostic, Predictive, Prognostic, and Therapeutic Molecular Biomarkers in Third Millennium: A Breakthrough in Gastric Cancer

Diagnostic, Predictive, Prognostic, and Therapeutic Molecular Biomarkers in Third Millennium: A Breakthrough in Gastric Cancer

Gastric biomarkers: a global review

E‐cadherin's role in development, tissue homeostasis and disease: Insights from mouse models

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