Associations between genetic variation in RUNX1 , RUNX2 , RUNX3 , MAPK1 and eIF4E and risk of colon and rectal cancer: additional support for a TGF-β-signaling pathway

Slattery, Martha L.; Lundgreen, Abbie; Herrick, Jennifer S.; Caan, Bette J.; Potter, John D.; Wolff, Roger K.

doi:10.1093/carcin/bgq245

Cited by 62 publications

(67 citation statements)

References 35 publications

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“…However, Slattery et al (2011) (Zhang et al, 2008). The increased risk for CRC in carriers of the TA haplotype may be due to additional RUNX3 variants in LD with our tested SNPs, rather than the A (rs760805) and G (rs2236852) alleles which were also found to increase CRC risk when considered individually.…”

Section: Discussionmentioning

confidence: 73%

RUNX3 gene polymorphisms and haplotypes in Mexican patients with colorectal cancer

Suárez-Villanueva¹,

Ml²,

Peregrina-Sandoval³

et al. 2015

Genet. Mol. Res.

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ABSTRACT.We analyzed a possible association between RUNX3 gene polymorphisms and haplotypes in Mexican patients with colorectal cancer (CRC). Genomic DNA samples were obtained from the peripheral blood of 176 Mexican patients with CRC at diagnosis and from 195 individuals that formed the control group. The polymorphisms were detected by polymerase chain reaction-restriction fragment length polymorphism. Association was estimated by odds ratio (OR). The haplotypes and linkage disequilibrium (2015) were established using the Arlequin v3.5 software. We found that the RUNX3 polymorphisms analyzed were in Hardy-Weinberg equilibrium. The RUNX3 rs2236852 AA genotype and A allele showed association with CRC (OR = 0.39, 95%CI = 0.21-0.73, P < 0.01; OR = 0.65, 95%CI = 0.49-0.87, P < 0.01, respectively), while the rs6672420, rs11249206, and rs760805 polymorphisms did not show significant association with CRC. The TA haplotype (SNPs rs760805 and rs2236852) showed an increased risk for CRC (OR = 2.52, 95%CI = 1.47-4.30, P < 0.001). In conclusion, we found that the AA genotype and A allele of rs2236852 polymorphism confer a decreased CRC risk, while the TA haplotype appears to increase the risk of CRC development in Mexican patients.

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Section: Discussionmentioning

confidence: 73%

RUNX3 gene polymorphisms and haplotypes in Mexican patients with colorectal cancer

Suárez-Villanueva¹,

Ml²,

Peregrina-Sandoval³

et al. 2015

Genet. Mol. Res.

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“…В этой группе (кроме нарушений с участием гена IGH) выделены отдельные подклассы лейкозов с другими повторяющимися генетическими аномалиями. Сюда можно отнести перегруппировки, связанные с генами MLL и RUNX1 [9,[41][42][43].…”

Section: Q131 (точечный мутагенез)unclassified

“…Нарушение в гене RUNX1 (CBF) приводит к нарушению дифференцировки клеток миелоидного и лимфоидного рядов, затрагивает функционирование многих сигнальных путей (Bcl-2 -антиапоптотический ген; C/EBPe -ген, продукт которого трансактивирует экспрессию гена G-CSFR путем взаимодействия с сайтом связывания C/EBP в регуляторных областях ДНК; сигнальный путь TGF-β) [40][41][42][43] В-ОЛЛ с t(1;19)(q23;p13.3), TCF3-PBX1 t(1;19)(q23;p13.3)…”

Section: Tel-aml1 (Etv6-runx1)unclassified

“…21q22.12 Степень амплификации и размер амплифицируемой области могут быть различны, но в любом случае амплификация затрагивает ген RUNX1 (AML1) (21q22.12), что приводит к нарушению дифференцировки клеток миелоидного и лимфоидного рядов, затрагивает функционирование многих сигнальных путей (Jagged1-Notch, отвечающий за пролиферацию стволовых клеток; плакоглобин и β-катенин -участники Wnt-сигнального пути; рецептор ростового фактора нервов RKA в человеческих CD34+ гемопоэтических клетках-предшественниках; Bcl-2 -антиапоптотический ген; C/EBPe -ген, продукт которого трансактивирует экспрессию гена G-CSFR путем взаимодействия с сайтом связывания C/EBP в регуляторных областях ДНК; сигнальный путь TGF-β) [9,[40][41][42][43] В-ОЛЛ с гиперплоидией IGH-CCND1, IGH-CCND3, IGH-MMSET, IGH-FGFR3, IGH-MAF, IGH-MAFB Гиперэкспрессия циклина D1, циклина D3, FGFR3 [63]. Подавление экспрессии других регуляторов клеточного цикла (BRCA1, AURKA, CHEK1), апоптоза (CASP1, CASP4, FOXO3A) и клеточной адгезии (ADAM9, DSG2) [84] Экстранодальная В-клеточная лимфома маргинальной зоны MALT-типа t(11;18)(q21;q21, t(14;18)(q32;q21, t(3;14) (p14.1;q32), t(1;14)(p22;q32) [ …”

Section: Tcf3-pbx1 (E2a-pbx1)unclassified

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Molecular Genetic Abnormalities in the Pathogenesis of Hematologic Malignancies and Corresponding Changes in Cell Signaling Systems

Тилова¹,

Savinkova²,

Zhidkova³

et al. 2017

Клиническая онкогематология

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Hematological disorders include a wide spectrum of malignancies of hematopoietic and lymphoid tissues. The genetic changes underlying the pathogenesis of the diseases are specific for each disease. High incidence of chromosomal aberrations (deletion, translocation, insertion) is one of the principal characteristics of oncohematological diseases. In addition, mutations in individual genes or blocking of normal regulation of gene functioning in relation to epigenetic events can occur. Progression of oncohematological diseases could be a result of accumulation of different genetic abnormalities. Modern classification of malignancies of hematopoietic and lymphoid tissues is based on the analysis of clinical data, morphological and functional characteristics of tumor cells and identification of specific cytogenetic and molecular-genetic changes. A large number of genetic abnormalities specific for certain types of hematological malignancies has been discovered to date. It allows to optimize the treatment strategy, as well as to design, test and introduce to the clinical practice a number of targeted drugs (inhibitors of chimeric proteins formed as a result of trans-locations and triggering the malignant cell transformation). Drugs based on monoclonal antibodies (Rituximab, Alemtuzumab, etc.) or low molecular weight compounds (Imatinib, Bortezomib, Carfilzomib) form this group of medications. The knowledge about not only specific gene abnormalities but also about the corresponding changes in cell efferent signaling pathways could be of great interest for the development of new targeted molecules or the repurposing of known chemotherapeutic agents. The present review compares genetic aberrations in diseases listed in the 2008 WHO classification (amended in 2016) of hematopoietic and lymphoid tissue malignancies and main changes in cell signaling pathways associated with malignant transformation of hematopoietic cells.

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“…Adapted and modified from [7][8][9] Genetic variations of eIF4E are also found associated with CRC. An evaluation of genetic variation of the runtrelated transcription factors (RUNX) and eIF4E in CRC showed that in CIMP+/KRAS2-mutated colon tumors, the combined risk for high-risk genotypes of RUNX2, eIF4E, and RUNX1 was 7.47 (95% CI 1.5835.3) [21].…”

Section: Eif4e and 4e-bpsmentioning

confidence: 99%

Translation initiation in colorectal cancer

Parsyan

Hernández

Meterissian

2012

Cancer Metastasis Rev

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Colorectal cancers (CRC) are one of the most common causes of morbidity and mortality in high-income countries. Targeted screening programs have resulted in early treatment and a substantial decrease in mortality. However, treatment strategies for CRC still require improvement. Understanding the etiology and pathogenesis of CRC would provide tools for improving treatment of patients with this disease. It is only recently that deregulation of the protein synthesis apparatus has begun to gain attention as a major player in cancer development and progression. Among the numerous steps of protein synthesis, deregulation of the process of translation initiation appears to play a key role in cancer growth and proliferation. This manuscript discusses a fascinating and rapidly growing field exploring translation initiation as a fundamental component in CRC development and progression and summarizing CRC treatment perspectives based on agents targeting translation initiation.

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Associations between genetic variation in RUNX1 , RUNX2 , RUNX3 , MAPK1 and eIF4E and risk of colon and rectal cancer: additional support for a TGF-β-signaling pathway

Cited by 62 publications

References 35 publications

RUNX3 gene polymorphisms and haplotypes in Mexican patients with colorectal cancer

RUNX3 gene polymorphisms and haplotypes in Mexican patients with colorectal cancer

Molecular Genetic Abnormalities in the Pathogenesis of Hematologic Malignancies and Corresponding Changes in Cell Signaling Systems

Translation initiation in colorectal cancer

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