Genetic polymorphisms of CCND1 and PTEN in progression of esophageal squamous carcinoma

Jang, Younghoon; Lu, Shen; Chen, Z P; Ma, Juan; Xu, Changqing; Zhang, C Z; Wang, J J

doi:10.4238/2013.december.13.2

Cited by 11 publications

(15 citation statements)

References 13 publications

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“…Xu et al [8] revealed that the carriers of homozygous mutant of rs701848 polymorphism increased ESCC risk than those with wild-type homozygotes. It is worthy to note that in another 2 case-control studies, one observed that the distribution of genotypes or alleles at PTEN rs701848 T/C possessing notably higher proportion in ESCC cases (n=304) than in the controls (n=413) [6], however, the other study did not found any significant differences of the genotype in PTEN rs701848 in ESCC patients (n=226) [18]. Although above studies investigated the cancer patients, the different kind of cancer and populations could differ in genetic variations, which can contribute to the discrepancies in these results.…”

Section: Discussionmentioning

confidence: 99%

The genetic variants in the PTEN/PI3K/AKT pathway predict susceptibility and CE(A)F chemotherapy response to breast cancer and clinical outcomes

Zhang

Liu

et al. 2017

Oncotarget

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The PI3K/PTEN/AKT pathway play a critical role in balancing cell growth and death. Epidemiologic studies suggested that mutations of the PI3K/PTEN/AKT pathway genes are associated with cancer risk, yet no data are available for PTEN rs701848, PIK3CA rs2699887, and AKT1 rs2494752 polymorphism and breast cancer(BC) risk. A case-control study was performed in 920 BC patients and 908 healthy controls using the TaqMan assay method. Overall, individuals with PTEN rs701848 TC, CC and TC/CC genotypes showed significant increased BC risk (P=0.043, P=0.002, P=0.008, respectively), and the C allele carriers had a 1.224-fold significantly increased risk of developing BC (P= 0.003). Moreover, a higher frequency of AKT rs2494752 AG genotype was observed among cases (P=0.045). Individuals harboring rs2494752 AG/AA genotype had a vital increased susceptibility to BC in the dominant model (P=0.039). More importantly, AKT1 rs2494752 GG genotype showed significantly rates of response to NCT chemotherapy (P=0.048). Furthermore, AKT1 rs2494752 AG genotype carriers showed significantly shorter DFS time, and GG genotype as the independent prognostic factor (DFS: adjusted HR=1.523, 95% CI=1.012-2.293, P=0.044; OS: adjusted HR=2.321, 95% CI=1.281-4.204, P=0.005). Moreover, MDR analysis consistently revealed that the combination of 3 selected SNPs and 7 known risk factors represented the best model to predicting BC prognosis. The luciferase assay showed that the G allele of rs2494752 significantly increased AKT1 promoter activity. These results suggest that PTEN rs701848 and AKT1 rs2494752 polymorphisms might be a candidate pharmacogenomic factor to assess the susceptibility of BC and response and prognosis prediction for interindividualized CE(A)F chemotherapy in BC patients.

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Section: Discussionmentioning

confidence: 99%

The genetic variants in the PTEN/PI3K/AKT pathway predict susceptibility and CE(A)F chemotherapy response to breast cancer and clinical outcomes

Zhang

Liu

et al. 2017

Oncotarget

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“…Particularly, rs701848 is located in untranslated regions (UTR) variant 3 prime, which targeted by Micro-Ribonucleic-Acid (miRNA) might alter the strength of miRNA binding, with consequence on regulation of target genes, thereby affecting the individuals' cancer risk. [23][24][25] Jang et al 26 indicated that the polymorphisms of PTEN rs701848 T/C and rs2735343 C/G might represent crucial modifying factors for development of ESCC in a Chinese casecontrol study. Some studies 27,28 indicated that PTEN hypermethylation is present in ESCC and PTEN methylation status may represent a valuable biomarker for ESCC.…”

Section: Discussionmentioning

confidence: 99%

Association of genetic polymorphisms in PTEN and additional gene-gene interaction with risk of esophageal squamous cell carcinoma in Chinese Han population

Chen

et al. 2015

Dis Esophagus

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This study aims to investigate the association of five single nucleotide polymorphisms (SNPs) in the phosphatase and tensin homologue (PTEN) gene and additional role of gene-gene interaction with esophageal squamous cell carcinoma (ESCC), based on a Chinese case-control study. A total of 871 subjects (420 males and 451 females) were selected, including 425 ESCC cases and 446 controls. Five SNPs were selected for genotyping in the case-control study: rs2735343, rs555895, rs2299939, rs17431184 and rs701848. Logistic regression model was used to examine the association between five SNP and ESCC, and additional interaction among five SNP, odds ratio (OR) and 95% confident interval (95%CI) were calculated. All genotypes were distributed according to Hardy-Weinberg equilibrium in controls. The carriers of homozygous mutant of rs2735343 and rs701848 polymorphism revealed increased ESCC risk than those with wild-type homozygotes, and OR (95%CI) were 1.27 (1.09-2.08) and 1.45 (1.17-1.98), respectively. We also found a potential gene-gene interaction between rs2735343 and rs701848 (P = 0.0010), and a potential gene-gene interaction among all five SNP (P = 0.0107) after covariates adjustment. Subjects with TC or CC of rs2735343 and TC or CC of rs701848 genotype have highest ESCC risk, compared to subjects with TT of rs2735343 and TT of rs701848 genotype, OR (95% CI) was 2.76 (1.37-3.45) after covariates adjustment. The carriers of homozygous mutant of rs2735343 and rs701848 polymorphism revealed increased ESCC risk. We also found a potential gene-gene interaction between rs2735343 and rs701848 and a potential gene-gene interaction among all five SNPs.

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“…Detailed information extracted from the included publications is provided in Table 1 . Of the 23 included studies, there were ten groups of Caucasians, 21 – 23 , 25 , 28 , 31 , 32 , 34 , 38 , 43 ten groups of Asians, 21 , 26 , 27 , 29 , 35 – 37 , 39 – 42 and three groups of mixed ethnicities. 24 , 30 , 33 Among the 23 included studies, the classic polymerase chain reaction-restriction fragment length polymorphism assay was the most frequently used method to genotype the CCND1 G870A polymorphism.…”

Section: Resultsmentioning

confidence: 99%

Association between the Cyclin D1 G870A polymorphism and the susceptibility to and prognosis of upper aerodigestive tract squamous cell carcinomas: an updated meta-analysis

Meng

Zhang

Zhou

2016

OTT

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PurposeSeveral publications have investigated the association between the Cyclin D1 G to A substitution at nucleotide 870 (CCND1 G870A) polymorphism and squamous cell carcinoma (SCC) of the upper aerodigestive tract (UADT), but their conclusions still remain controversial. We conducted a meta-analysis to precisely evaluate this association.Patients and methodsWe electronically searched the Chinese National Knowledge Infrastructure, PubMed, and Embase (up to January 2015) databases for case–control studies on the association between the CCND1 G870A polymorphism and SCC of the UADT, and 23 studies were included in total.ResultsThe meta-analysis results showed that there was a significant association between the CCND1 G870A polymorphism and the risk of SCC of the UADT (AA vs GG: odds ratio [OR] =1.33, 95% confidence interval [CI] =1.01–1.74, P<0.001 for heterogeneity; GA/AA vs GG: OR =1.24, 95% CI =1.01–1.51, P<0.001 for heterogeneity; AA vs GA/GG: OR =1.16, 95% CI =0.97–1.39, P<0.001 for heterogeneity; allele A vs allele G: OR =1.14, 95% CI =1.00–1.30, P<0.001 for heterogeneity; GA vs GG: OR =1.18, 95% CI =0.98–1.42, P<0.001 for heterogeneity). However, when analyzing prognosis, allele G was a potential risk factor for poor tumor differentiation (AA vs GA/GG: OR =2.60, 95% CI =1.15–5.86, P=0.836 for heterogeneity) and reduced disease-free intervals (OR =2.08, 95% CI =1.17–3.69, P=0.134 for heterogeneity). In the subgroup analysis, the cancer susceptibility of Asian groups, population-based control groups, nasopharyngeal cancer groups, and esophageal SCC groups were more likely to be affected by the CCND1 G870A polymorphism. No significant publication bias was found in our analysis (P=0.961 for Egger’s test and P=0.245 for Begg’s test).ConclusionThe results of the present meta-analysis suggest that the variant CCND1 870A allele might confer an elevated risk of SCC of the UADT, particularly among Asians and individuals who have esophageal or nasopharyngeal cancers. Moreover, the CCND1 870A allele might also confer better tumor differentiation grades and longer disease-free intervals.

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Genetic polymorphisms of CCND1 and PTEN in progression of esophageal squamous carcinoma

Cited by 11 publications

References 13 publications

The genetic variants in the PTEN/PI3K/AKT pathway predict susceptibility and CE(A)F chemotherapy response to breast cancer and clinical outcomes

The genetic variants in the PTEN/PI3K/AKT pathway predict susceptibility and CE(A)F chemotherapy response to breast cancer and clinical outcomes

Association of genetic polymorphisms in PTEN and additional gene-gene interaction with risk of esophageal squamous cell carcinoma in Chinese Han population

Association between the Cyclin D1 G870A polymorphism and the susceptibility to and prognosis of upper aerodigestive tract squamous cell carcinomas: an updated meta-analysis

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