Analysis of the relative copy numbers of TP63, YAP1 and KMT2D genetic loci and EGFR expression in orthotopic patient-derived xenografts of cardioesophageal cancer in immunodeficient mice.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. e15033-e15033
Author(s):  
Anna S. Goncharova ◽  
Evgeniy N. Kolesnikov ◽  
Ekaterina V. Zaikina ◽  
A. V. Volkova ◽  
M. V. Mindar ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Nude Mice ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Individual Characteristics ◽  
Genetic Loci ◽  
Cardiac Stomach ◽  
Immunodeficient Mice ◽  
Copy Numbers ◽  
Egfr Expression

e15033 Background: Cardioesophageal cancer is a common tumor affecting the cardiac stomach and lower esophagus. Tumor heterogeneity is important, since it can cause the ineffectiveness of chemotherapy and radiotherapy due to individual characteristics of the neoplasm in different patients, as well as the intensification of invasion and metastasis. Our purpose was to analyze the relative copy numbers of TP63, YAP1 and KMT2D genetic loci and EGFR expression in orthotopic patient-derived xenografts of cardioesophageal cancer. Methods: The model of cardioesophageal cancer was created in Balb/c Nude mice with surgical bioptates of adenocarcinoma obtained from donors. The relative copy numbers of TP63, YAP1 and KMT2D genetic loci and EGFR expression were determined by Real-Time qPCR. Results: A PDX model of cardioesophageal cancer was successfully created by transplanting a moderately differentiated adenocarcinoma from a patient diagnosed with infiltrative ulcerative cancer of the lower third of the esophagus with a transition to the cardiac stomach into the distal esophagus of Balb/c Nude mice. The EGFR expression was elevated in patient tumor samples, compared to healthy tissues (p = 0.021) and gastric cancer xenografts (p = 0.07). Molecular genetic analysis demonstrated an association between an increased EGFR expression and changes in the relative copy numbers of TP63, YAP1, and KMT2D in donor samples compared to gastric cancer xenografts (p = 0.02, p = 0.026 and p = 0.042). Conclusions: The relative copy numbers of TP63, YAP1, and KMT2D were associated with intensified EGFR expression and changed with each new generation of orthotopic xenografts.

Correlation of SOX-2 and NOTCH1 copy numbers with vimentin expression in orthotopic patient-derived xenografts of cardioesophageal cancer in immunodeficient mice.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. e15034-e15034
Author(s):  
Anna S. Goncharova ◽  
Evgeniy N. Kolesnikov ◽  
Ekaterina V. Zaikina ◽  
A. V. Volkova ◽  
M. V. Mindar ◽  
...  
Keyword(s):  
Nude Mice ◽  
Epithelial Mesenchymal Transition ◽  
Molecular Genetic Analysis ◽  
Distal Esophagus ◽  
Vimentin Expression ◽  
Tissue Samples ◽  
Cardiac Stomach ◽  
Mesenchymal Transition ◽  
Immunodeficient Mice ◽  
Copy Numbers

e15034 Background: Cardioesophageal cancer is one of the most common tumors affecting the mucosa of the cardiac stomach and distal esophagus. Despite the variety of treatment strategies and chemotherapy agents, the prognosis for the patients remains poor. The purpose of the study was to analyze the relative copy numbers of SOX-2 and NOTCH1 and vimentin expression in orthotopic patient-derived xenografts of cardioesophageal cancer. Methods: The model of cardioesophageal cancer was created in Balb/c Nude mice with surgical bioptates of moderately differentiated adenocarcinoma obtained from a donor with infiltrative ulcerative cancer of the lower third of the esophagus with a transition to the cardiac stomach into the distal esophagus of Balb/c Nude mice. The index of proliferative activity in the bioptates was assessed by IHC. The relative copy numbers of SOX-2 and NOTCH1 and vimentin expression were determined by Real-Time qPCR. Results: Expression of vimentin was absent in tissues of the donor tumor. The levels of vimentin expression statistically significantly increased in xenografts (1+ and 3+). The SOX-2 and NOTCH1 relative copy numbers were statistically significantly increased in tissues of the donor tumor (0.9 and 0.7), compared to xenografts (1.5±0.03 and 1.7±0.03). Molecular genetic analysis demonstrated an association between an increased vimentin expression and changes in the relative copy numbers of SOX-2 and NOTCH1 (p = 0.013 and p = 0.0001). Conclusions: The relative copy numbers of SOX-2 and NOTCH1 genetic loci was associated with increased expression of the epithelial-mesenchymal transition marker vimentin in tumor tissue samples and changed with each new generation of orthotopic xenografts.

scholarly journals HEREDITARY DIFFUSE GASTRIC CANCER: GENETIC ASPECTS AND PROPHYLACTIC TOTAL GASTRECTOMY

2018 ◽  
Vol 17 (4) ◽  
pp. 48-52
Author(s):  
L. N. Lyubchenko ◽  
M. G. Filippova ◽  
O. A. Anurova ◽  
P. B. Nazliev ◽  
I. S. Stilidi
Keyword(s):  
Gastric Cancer ◽  
Total Gastrectomy ◽  
Gene Mutation ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Hereditary Diffuse Gastric Cancer ◽  
Diffuse Gastric Cancer ◽  
Cdh1 Gene ◽  
Prophylactic Gastrectomy ◽  
Risk Of Cancer

For patients with an identified germline E-cadherin-1 (CDH1) mutation, prophylactic gastrectomy is the treatment of choice to eliminate the high risk of developing diffuse gastric  cancer. The case report describes a rare case of hereditary diffuse gastric cancer (HDGC)  associated with CDH1 gene mutation, which is reported in the Russian population for the first  time. In 2013, a 28-year- old woman was referred to Clinical Oncogenetics Laboratory with a  family history of gastric cancer. Molecular genetic analysis revealed CDH1 gene mutation. The  lifetime risk of cancer in mutation positive members is more than 80. Histological examination  of gastric biopsy specimens obtained during endoscopy revealed isolated signet ring cells in the  lamina propria. Spleenpreserving D2-lymphodissection and total gastrectomy with Roux-en-Y  reconstruction with a jejunal reservoir formation were performed at the Abdominal Oncology Surgery Department.

Molecular Characterization and Genetic Diversity Study in F3 Population of Rice

2013 ◽  
Vol 20 (1-2) ◽  
pp. 1-8
Author(s):  
MM Rahman ◽  
L Rahman ◽  
SN Begum ◽  
F Nur
Keyword(s):  
Genetic Distance ◽  
Gene Diversity ◽  
Random Amplified Polymorphic Dna ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Polymorphic Loci ◽  
Rice Genotypes ◽  
High Level ◽  
Genetic Diversity Study ◽  
Diversity Study

Random Amplified Polymorphic DNA (RAPD) assay was initiated for molecular genetic analysis among 13 F3 rice lines and their parents. Four out of 15 decamer random primers were used to amplify genomic DNA and the primers yielded a total of 41 RAPD markers of which 37 were considered as polymorphic with a mean of 9.25 bands per primer. The percentage of polymorphic loci was 90.24. The highest percentage of polymorphic loci (14.63) and gene diversity (0.0714) was observed in 05-6 F3 line and the lowest polymorphic loci (0.00) and gene diversity (0.00) was found in 05-12 and 05-15 F3 lines. So, relatively high level of genetic variation was found in 05-6 F3 line and it was genetically more diverse compared to others. The average co-efficient of gene differentiation (GST) and gene flow (Nm) values across all the loci were 0.8689 and 0.0755, respectively. The UPGMA dendrogram based on the Nei’s genetic distance differentiated the rice genotypes into two main clusters: PNR-519, 05-19, 05-14, 05-12 and 05-17 grouped in cluster 1. On the other hand, Baradhan, 05-9, 05-13, 05-11, 05-5, 05-6, 05-1, 05-4, 05-15 and 05-25 were grouped in cluster 2. The highest genetic distance (0.586) was found between 05-4 and 05-17 F3 lines and they remain in different cluster.DOI: http://dx.doi.org/10.3329/pa.v20i1-2.16839 Progress. Agric. 20(1 & 2): 1 – 8, 2009

Diagnosis and Management of Cardiomyopathies – A Focus on Genetics, Cardiac Magnetic Resonance and Clinical Features

2011 ◽  
Vol 7 (3) ◽  
pp. 225
Author(s):  
Gianfranco Sinagra ◽  
Michele Moretti ◽  
Giancarlo Vitrella ◽  
Marco Merlo ◽  
Rossana Bussani ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Cardiac Magnetic Resonance ◽  
Magnetic Resonance ◽  
Imaging Techniques ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Routine Clinical Practice ◽  
Clinical Approach ◽  
Diagnosis And Management ◽  
Made In

In recent years, outstanding progress has been made in the diagnosis and treatment of cardiomyopathies. Genetics is emerging as a primary point in the diagnosis and management of these diseases. However, molecular genetic analyses are not yet included in routine clinical practice, mainly because of their elevated costs and execution time. A patient-based and patient-oriented clinical approach, coupled with new imaging techniques such as cardiac magnetic resonance, can be of great help in selecting patients for molecular genetic analysis and is crucial for a better characterisation of these diseases. This article will specifically address clinical, magnetic resonance and genetic aspects of the diagnosis and management of cardiomyopathies.

scholarly journals MOLECULAR GENETIC ANALYSIS OF THE DILUTE-SHORT EAR (d-se) REGION OF THE MOUSE

Genetics ◽  
1986 ◽  
Vol 112 (2) ◽  
pp. 321-342
Author(s):  
Eugene M Rinchik ◽  
Liane B Russell ◽  
Neal G Copeland ◽  
Nancy A Jenkins
Keyword(s):  
Physical Map ◽  
Leukemia Virus ◽  
Molecular Genetic ◽  
Break Point ◽  
Virus Genome ◽  
Molecular Genetic Analysis ◽  
Chromosome 9 ◽  
Genetic Complementation ◽  
Induced Mutations ◽  
Radiation Induced

ABSTRACT Genes of the dilute-short ear (d-se) region of mouse chromosome 9 comprise an array of loci important to the normal development of the animal. Over 200 spontaneous, chemically induced and radiation-induced mutations at these loci have been identified, making it one of the most genetically well-characterized regions of the mouse. Molecular analysis of this region has recently become feasible by the identification of a dilute mutation that was induced by integration of an ecotropic murine leukemia virus genome. Several unique sequence cellular DNA probes flanking this provirus have now been identified and used to investigate the organization of wild-type chromosomes and chromosomes with radiation-induced d-se region mutations. As expected, several of these mutations are associated with deletions, and, in general, the molecular and genetic complementation maps of these mutants are concordant. Furthermore, a deletion break-point fusion fragment has been identified and has been used to orient the physical map of the d-se region with respect to the genetic complementation map. These experiments provide important initial steps for analyzing this developmentally important region at the molecular level, as well as for studying in detail how a diverse group of mutagens acts on the mammalian germline.

scholarly journals Repeated molecular genetic analysis in Brugada syndrome revealed a novel disease-associated large deletion in the SCN5A gene

2016 ◽  
Vol 2 (3) ◽  
pp. 261-264 ◽  
Author(s):  
Anders Krogh Broendberg ◽  
Lisbeth Noerum Pedersen ◽  
Jens Cosedis Nielsen ◽  
Henrik Kjaerulf Jensen
Keyword(s):  
Genetic Analysis ◽  
Brugada Syndrome ◽  
Molecular Genetic ◽  
Large Deletion ◽  
Molecular Genetic Analysis ◽  
Scn5a Gene
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