Análisis genético en APC, KRAS y TP53 en pacientes con cáncer de estómago y colon

Palacio-Rúa, K.A.; Isaza-Jiménez, L.F.; Ahumada-Rodríguez, E.; Ceballos-García, H.; Muñetón-Peña, Carlos M

doi:10.1016/j.rgmx.2014.05.001

Cited by 16 publications

(6 citation statements)

References 49 publications

(73 reference statements)

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“…A large number studies had suggested that, many gene mutations, such as BRAF, E-Cadherin, and TP53 genes play an important role during the process of cancer development. The synergistic effects of these polymorphisms maybe initiate the procedure of abnormal changes of normal cells, and to accelerate the formation of the tumor solid [30–32]. …”

Section: Discussionmentioning

confidence: 99%

Significant association between Let-7-KRAS rs712 G > T polymorphism and cancer risk in the Chinese population: a meta-analysis

Du¹,

Xie³

et al. 2017

Oncotarget

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Association between let-7-KRAS rs712 polymorphism and cancer risk was inconsistent. We therefore conducted this meta-analysis to clarify the association between let-7-KRAS rs712 polymorphism and cancer risk with STATA 14.0 software. A systemic literature search in online databases (PubMed, Embase, CNKI and Wanfang database) was preformed to obtain relevant articles. A total of 13 case-control studies involving 3,453 patients and 4,470 controls were identified up to May 16, 2015. The pooled results indicated that significantly increased risk were observed in Chinese population in T vs. G (OR = 1.21, 95% CI = 1.03–1.42) and TT vs. GG + GT genetic models (OR = 1.69, 95% CI = 1.17–2.42). Sensitivity analysis was conducted and the result without heterogeneity showed significant associations in all five genetic models. Subgroup analyses of cancer type indicated a similar result in digestive cancer (for T vs. G: OR = 1.41, 95% CI = 1.26–1.57; GT vs. GG: OR = 1.24, 95% CI = 1.07–1.43; TT vs. GG: OR = 2.53, 95% CI = 1.86–3.44; GT + TT vs. GG: OR = 1.36, 95% CI = 1.19–1.56; TT vs. GG + GT: OR = 2.35, 95% CI = 1.73–3.19). In summary, these evidences demonstrate that let-7-KRAS rs712 G > T polymorphism might be associated with digestive system cancer risk in the Chinese population.

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Section: Discussionmentioning

confidence: 99%

Significant association between Let-7-KRAS rs712 G > T polymorphism and cancer risk in the Chinese population: a meta-analysis

Du¹,

Xie³

et al. 2017

Oncotarget

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“…and Venezuela) to 40% (Chile). However, the literature shows that the RAS mutation prevalence usually has a range of 26% to 50% [34][35][36]. Previous studies have shown that mutations in KRAS are variable among populations.…”

Section: Plos Onementioning

confidence: 99%

KRAS, NRAS, and BRAF mutation prevalence, clinicopathological association, and their application in a predictive model in Mexican patients with metastatic colorectal cancer: A retrospective cohort study

Sánchez-Ibarra¹,

Jiang

Gallegos-Gonzalez³

et al. 2020

PLoS ONE

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Mutations in KRAS, NRAS, and BRAF (RAS/BRAF) genes are the main predictive biomarkers for the response to anti-EGFR monoclonal antibodies (MAbs) targeted therapy in metastatic colorectal cancer (mCRC). This retrospective study aimed to report the mutational status prevalence of these genes, explore their possible associations with clinicopathological features, and build and validate a predictive model. To achieve these objectives, 500 mCRC Mexican patients were screened for clinically relevant mutations in RAS/BRAF genes. Fifty-two percent of these specimens harbored clinically relevant mutations in at least one screened gene. Among these, 86% had a mutation in KRAS, 7% in NRAS, 6% in BRAF, and 2% in both NRAS and BRAF. Only tumor location in the proximal colon exhibited a significant correlation with KRAS and BRAF mutational status (p-value = 0.0414 and 0.0065, respectively). Further t-SNE analyses were made to 191 specimens to reveal patterns among patients with clinical parameters and KRAS mutational status. Then, directed by the results from classical statistical tests and t-SNE analysis, neural network models utilized entity embeddings to learn patterns and build predictive models using a minimal number of trainable parameters. This study could be the first step in the prediction for RAS/ BRAF mutational status from tumoral features and could lead the way to a more detailed and more diverse dataset that could benefit from machine learning methods.

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“…Mutations in APC have been found in several cancers, including colorectal [ 13 ], pancreatic [ 14 ], and hepatocellular [ 15 ], but they are reported to be much rarer in breast cancer. The first report of APC mutations in breast cancer was published by Kashiwaba et al [ 16 ], who detected a mutation rate of 6 % (2 of 31) in primary breast carcinoma samples using PCR followed by restriction fragment length polymorphism (RFLP) and single-strand conformation polymorphism (SSCP) analyses.…”

Section: Discussionmentioning

confidence: 99%

Analysing the mutational status of adenomatous polyposis coli (APC) gene in breast cancer

et al. 2016

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BackgroundBreast cancer is a heterogeneous disorder for which the underlying genetic basis remains unclear. We developed a method for identifying adenomatous polyposis coli (APC) mutations and we evaluated the possible association between APC genetic variants and breast cancer susceptibility.MethodsGenomic DNA was extracted from tumor and matched peripheral blood samples collected from 89 breast cancer patients and from peripheral blood samples collected from 50 controls. All samples were tested for mutations in exons 1–14 and the mutation cluster region of exon 15 by HRM analysis. All mutations were confirmed by direct DNA sequencing.ResultsWe identified a new single nucleotide polymorphism (SNP), c.465A>G (K155K), in exon 4 and seven known SNPs: c.573T>C (Y191Y) in exon 5, c.1005A>G (L335L) in exon 9, c.1458T>C (Y486Y) and c.1488A>T (T496T) in exon 11, c.1635G>A (A545A) in exon 13, and c.4479G>A (T1493T) and c.5465T>A (V1822D) in exon 15. The following alterations were found in 2, 1, 2, and 1 patients, respectively: c.465A>G, c.573T>C, c.1005A>G, and c.1488A>T. There was no observed association between breast cancer risk and any of these APC SNPs.ConclusionsAPC mutations occur at a low frequency in Taiwanese breast cancer cases. HRM analysis is a powerful method for the detection of APC mutations in breast.Electronic supplementary materialThe online version of this article (doi:10.1186/s12935-016-0297-2) contains supplementary material, which is available to authorized users.

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Análisis genético en APC, KRAS y TP53 en pacientes con cáncer de estómago y colon

Cited by 16 publications

References 49 publications

Significant association between Let-7-KRAS rs712 G > T polymorphism and cancer risk in the Chinese population: a meta-analysis

Significant association between Let-7-KRAS rs712 G > T polymorphism and cancer risk in the Chinese population: a meta-analysis

KRAS, NRAS, and BRAF mutation prevalence, clinicopathological association, and their application in a predictive model in Mexican patients with metastatic colorectal cancer: A retrospective cohort study

Analysing the mutational status of adenomatous polyposis coli (APC) gene in breast cancer

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