CDH1 somatic alterations in Mexican patients with diffuse and mixed sporadic gastric cancer

Bustos-Carpinteyro, Andrea Rebeca; Oliveíra, Carla; Sousa, Abel; Oliveira, Patrícia; Pinheiro, Hugo; Carvalho, Joana; Magaña-Torres, María Teresa; Flores-Miramontes, María Guadalupe; Aguilar‐Lemarroy, Adriana; Jave‐Suárez, Luis Felipe; Peregrina-Sandoval, Jorge; Cruz-Ramos, José Alfonso; Sánchez-López, Josefina Yoaly

doi:10.1186/s12885-019-5294-0

Cited by 15 publications

(11 citation statements)

References 25 publications

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“…This gene is mainly related to Peutz-Jeghers syndrome 40 . Cadherin-1 (CDH1), in the classical cadherin superfamily, is associated with cancer proliferation and invasiveness 41 . SNU-2621B had mutation in STK11 and CDH1, but no other cell lines had these mutations.…”

Section: Discussionmentioning

confidence: 99%

Establishment and characterization of 18 human colorectal cancer cell lines

Kim

et al. 2020

Sci Rep

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Colorectal cancer (CRC) represents the third most frequently diagnosed malignancy worldwide and is the second most common cause of tumor-associated mortalities in Korea. Due to the disease's aggressive behavior, the 5-year survival rate for CRC patients remains unpromising. Well-characterized cell lines have been used as a biological model for studying the biology of cancer and developing novel therapeutics. To assist in vitro studies, 18 CRC cell lines () derived from Korean patients were established and characterized in the present study. General characteristics of each cell line including doubling time, in vitro morphology, mutational profiles, and protein expressions of CRCrelated genes were described. Whole exome sequencing was performed on each cell line to configure mutational profiles. Single nucleotide variation, frame shift, in-frame deletions and insertions, start codon deletion, and splice stop codon mutation of various genes were found and classified based on their pathogenicity reports. In addition, cell viability was assayed to measure their sensitivities to 24 anti-cancer drugs including anti-metabolites, kinase inhibitors, histone deacetylase inhibitors, alkylating inhibitors, and topoisomerase inhibitors, all widely used for various cancers. On testing, five CRC cell lines showed MSI, of which MLH1 or MSH6 gene was mutated. These newly established CRC cell lines can be used to investigate biological characteristics of CRC, particularly for investigating gene alterations associated with CRC.Colorectal cancer (CRC) represents the third most frequently diagnosed tumor worldwide and is the second most common cause of tumor-associated mortalities in Korea 1,2 . It remains the second most perpetual type of tumor in both genders (men: 12.4%; women: 10.1%), and the number of CRC cases continues to increase. Approximately 25% of CRC cases are diagnosed in stage IV, and recurrence with distance metastasis follows after primary resection in nearly 50% of CRC patients 3 . Due to its aggressive behavior, the 5-year relative survival rate remains disapproving 4 . Neoadjuvent therapy is generally performed before surgical resection as single-or multi-agent chemotherapy to improve prognosis 5 . While roughly 50% of CRC patients respond to customary chemotherapy, the majority develop drug resistance through the course of treatment, and relapse or distance metastasis often follows. In recent years, novel anti-cancer agents that target surface growth factor receptors have been developed as adjuvant therapy to decrease the risk of the cancer recurrence 6 .Well-characterized cell lines have been used as models for studying the biology of cancer and developing novel therapeutics 7 . However, most of the widely used CRC cell lines were derived from Caucasian and African American populations. Accordingly, inter-heterogeneity from ethnic diversity has been biased toward Western countries. To address this need, we established and characterized 18 novel CRC cell cultures

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Section: Discussionmentioning

confidence: 99%

Establishment and characterization of 18 human colorectal cancer cell lines

Kim

et al. 2020

Sci Rep

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“…We detected p.I289Hfs*27 and p.P127Afs*41 frame shift mutations in EDIL3 and CDH1, respectively, the reading frame is shifted and synthesized proteins have functional deficiencies due to the incomplete structure of the protein. There are studies reporting that these frame shift mutations, which are in the CDH1 gene encoding E-cadherin, result in the development of diffuse stomach cancer (20,21). The E-cadherin, which was encoded by the CDH1 gene, is a sort of glycoprotein found in the epithelium of all mammals.…”

Section: Discussionmentioning

confidence: 99%

“…Its part in the cell consists of 151 amino acids and is ligated to the intracellular actin skeleton through α, β and γ-catenines. The extracellular section of it consists of 554 amino acids and communicates with the molecules of neighboring E-cadherin (20)(21)(22). This p.P127Afs*41 mutation occurs when synthesizing the incomplete extracellular portion of the protein.…”

Section: Discussionmentioning

confidence: 99%

EDIL3 is a novel regulator epithelial-mesenchymal transition in Clear Cell Renal Cell Carcinoma: In silico analysis

Sağkan¹

2020

Erciyes Med J

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Objective: Epithelial-mesenchymal transition (EMT) is an important contributing factor to cancer metastasis and recurrence, which are major obstacles in changing the course of cancer. However, there is limited study in the literature explaining the genome and gene expression profile of EDIL3 that reveals the relationship between clear cell renal cell carcinoma (ccRCC) and EMT markers. Our study aim was to reveal the correlation between tumor and EMT markers (E-cadherin and Vimentin) and EDIL3 expression. Additionally, we also explore to these target genes expression levels and mutation profiles in samples of kidney cancer tissue and normal tissue. Material and Methods: We investigated EDIL3 mutations profile and m-RNA expression and its correlations with VIM and CDH1 mutations profile and m-RNA expression levels in 523 ccRCC patients using by validated bioinformatics analysis for the revealing relationship of these molecules. Additionally, PolyPhen-2 and SNAP tools were used to prediction and confirmation of detected mutations pathogenicity. All of studies were based on in silico using bioinformatic tools. Results: The EDIL3 and VIM expressions statistically significant higher than the healthy group and display positive correlation in ccRCC patients. Patients with elevated VIM and CDH1 expression and low EDIL3 expression have prolonged survival time. In addition, 7 mutations were detected in studied genes and 6 of these mutations were found to have possible pathogenic features. Conclusion: Our study can shed light on further experimental studies. Finally, EDIL3 may be turned to account as a diagnostic or prognostic indicator for development of cancer, and as a helping to cure for renal clear cell cancer.

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“…E cadherin dysregulation occurs mainly due to somatic alterations of the CDH1 gene, which is often an early stage in colorectal carcinogenesis. In addition to colorectal cancer, somatic mutations in the CDH1 gene have also been identified in sporadic diffuse gastric cancers, lobular breast cancer, ovarian cancer, and prostate cancer [23].…”

Section: The Expression Of E-cadherin On Epithelial Cell Membranes Maintains Cell Connections and Suppresses Cell Invasion Mutation Of Thmentioning

confidence: 99%

Clinical significance of proliferation index and E-cadherin expression in colorectal adenocarcinoma

et al. 2021

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Introduction/Objective. The aim of this study is to examine the association of E-cadherin expression and high proliferation index (proIDX) with clinical and pathological indicators of colorectal cancer progression. Methods. The biopsy of 72 patients, obtained by resection of colorectal cancer, was routinely processed at the Institute of Pathology of the Clinical Centre of Montenegro, embedded in paraffin and archived. Based on the archived pathohistological reports, two study groups were formed: the first group (n = 72) consisted of operative biopsies of colorectal cancer, and the control group (n = 72) consisted of biopsies of adjacent non-tumor tissue. Routine hematoxylin-eosin and immunohistochemical ABC method with anti-Ki67 and anti-E-cadherin antibodies was applied on. After quantification of the results for statistical tests, the software package SPSS for Windows (19.0) was used. Results. In colorectal carcinoma, we observed a significant association of proIDX with pT stage, lymph and blood vessel invasion, perineural invasion, lymph node metastases and distant metastases, and Astler-Coller stage tumor disease. We also observed that the absence of E-cadherin was significantly associated with pT stage, lymph and blood vessel invasion, perineural invasion with lymph node metastases, distant metastases, with C2 and D Astler-Coller tumor stage. E-cadherin expression is associated with proIDX with a significantly high, negative correlation coefficient. Conclusion. Our results indicate that it is possible to differentiate patients into groups with a higher or lower risk of developing metastatic disease, based on the expression of Ki67 and E-cadherin.

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CDH1 somatic alterations in Mexican patients with diffuse and mixed sporadic gastric cancer

Cited by 15 publications

References 25 publications

Establishment and characterization of 18 human colorectal cancer cell lines

Establishment and characterization of 18 human colorectal cancer cell lines

EDIL3 is a novel regulator epithelial-mesenchymal transition in Clear Cell Renal Cell Carcinoma: In silico analysis

Clinical significance of proliferation index and E-cadherin expression in colorectal adenocarcinoma

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