Genetic analysis of colorectal carcinoma using high throughput single nucleotide polymorphism genotyping technique within the population of Jammu and Kashmir

Sharma, Bhanu; Angurana, Shabab; Bhat, Amrita; Verma, Sonali; Bakshi, Divya; Bhat, Ghulam Rasool; Jamwal, Rajeshwer Singh; Amin, Asif; Qadri, Raies A.; Shah, Ruchi; Kumar, Rakesh

doi:10.1007/s11033-021-06583-8

Cited by 5 publications

(1 citation statement)

References 57 publications

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“…При этом часть из хромосомных сегментов включают в себя такие гены как р53 (17 хромосома), DCC, DPC4 и SMAD2 (18 хромосома) и APC и MCC (5 хромосома), патогенетически ассоциированные с канцерогенезом. Опухоли, для которых характерна потерей гетерозиготности с локализацией на хромосомах 5q, 18q или 17p, имеют худший прогноз [49,54]. Процесс, при котором происходит превращение нормальной клетки, но с повышенным риском трансформации, в раковую сформулирован в называемую двуударную теорию канцерогенеза.…”

Section: молекулярно-генетическая характеристика канцерогенезаunclassified

Tumor biology: molecular genetics mechanisms of initiation, promotion and progression

Агеева

Golubinskaya²,

Makalish³

et al. 2022

J Educ Health Sport

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For all tumors, regardless of type and tissue, there are a number of common features. These include high proliferative activity, disturbances in the mechanisms of apoptosis and "invisibility" for the cells of the immune system. At the basis of all these disorders lies a malfunction in the interaction between signaling proteins inside the cell, due to a violation of the expression of genes responsible for their synthesis. The aim of the review is to study the molecular biological mechanisms of carcinogenesis, characteristics and features of tumor cells that affect the development of the disease, progression, drug resistance and clinical results and the possibilities of targeted therapy of oncological diseases. Material and methods. The search for literature sources was carried out using PubMed, CyberLeninka, eLibrary, Google Scholar databases; the search depth was 15 years. Results. Recent works have shown the evolution of views on the classification of tumors from the point of view of the mechanisms of damage to the processes of cellular regulation and histogenesis, as well as the development of the modern theory of carcinogenesis, ideas about the mechanisms of development of tumor diseases and the prospects of modern therapies. Conclusion. The study of molecular biological mechanisms of carcinogenesis, characteristics and features of tumor cells is not only fundamental, but also of applied importance in order to predict the development of the disease, progression, drug resistance, clinical results and the possibilities of targeted therapy.

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Section: молекулярно-генетическая характеристика канцерогенезаunclassified

Tumor biology: molecular genetics mechanisms of initiation, promotion and progression

Агеева

Golubinskaya²,

Makalish³

et al. 2022

J Educ Health Sport

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A functional variant rs10409772 in FUT6 promoter regulates colorectal cancer progression through PKA/CREB signaling

Zhang,

Song,

2024

Translational Oncology

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NME1 and DCC variants are associated with susceptibility and tumor characteristics in Mexican patients with colorectal cancer

Márquez-González,

Saucedo-Sariñana,

de Jesús Tovar-Jacome

et al. 2024

J Egypt Natl Canc Inst

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Background Colorectal cancer (CRC) ranks third in cancer incidence globally and is the second leading cause of cancer-related mortality. The nucleoside diphosphate kinase 1 (NME1) and netrin 1 receptor (DCC) genes have been associated with resistance against tumorigenesis and tumor metastasis. This study investigates the potential association between NME1 (rs34214448 G > T and rs2302254 C > T) and DCC (rs2229080 G > C and rs714 A > G) variants and susceptibility to colorectal cancer development. Methods Samples from 232 colorectal cancer patients and 232 healthy blood donors underwent analysis. Variants were identified using polymerase chain reaction-restriction fragment length polymorphism (PCR–RFLP) methodology. Associations were assessed using odds ratios (OR), and the p values were adjusted with Bonferroni test. Results Individuals carrying the G/T and T/T genotypes for the NME1 rs34214448 variant exhibited a higher susceptibility for develop colorectal cancer (OR = 2.68, 95% CI: 1.76–4.09, P = 0.001 and OR = 2.47, 95% CI: 1.37–4.47, P = 0.001, respectively). These genotypes showed significant associations in patients over 50 years (OR = 2.87, 95% CI: 1.81–4.54, P = 0.001 and OR = 2.99, 95% CI: 1.54–5.79, P = 0.001 respectively) and with early Tumor-Nodule-Metastasis (TNM) stage (P = 0.001), and tumor location in the rectum (P = 0.001). Furthermore, the DCC rs2229080 variant revealed that carriers of the G/C genotype had an increased risk for develop colorectal cancer (OR = 2.00, 95% CI: 1.28–3.11, P = 0.002) and were associated with age over 50 years, sex, and advanced TNM stages (P = 0.001). Conclusions These findings suggest that the NME1 rs34214448 and DCC rs2229080 variants play a significant role in colorectal cancer development.

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Genetic analysis of colorectal carcinoma using high throughput single nucleotide polymorphism genotyping technique within the population of Jammu and Kashmir

Cited by 5 publications

References 57 publications

Tumor biology: molecular genetics mechanisms of initiation, promotion and progression

Tumor biology: molecular genetics mechanisms of initiation, promotion and progression

A functional variant rs10409772 in FUT6 promoter regulates colorectal cancer progression through PKA/CREB signaling

NME1 and DCC variants are associated with susceptibility and tumor characteristics in Mexican patients with colorectal cancer

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