Epidermal Growth Factor Receptor Polymorphisms and Breast Cancer Among Hispanic and Non-Hispanic White Women: The Breast Cancer Health Disparities Study

Connor, Avonne E.; Baumgartner, Richard N.; Baumgartner, Kathy B.; Pinkston, Christina; John, EM; Torres-Mejı́a, Gabriela; Hines, Lisa M.; Giuliano, Antônio; Wolff, Roger K.; Slattery, Marty

doi:10.1016/j.annepidem.2013.06.016

Cited by 7 publications

(9 citation statements)

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“…A previous study indicated that this polymorphism was associated with breast cancer mortality. 17 Consistent with this finding, our results showed that patients harboring the rs9642391 GG or GC genotypes had significantly better OS and DFS compared with those carrying the rs9642391 CC genotype. Our result implies that rs9642391C>G may play an important role in the pathogenesis of lung cancer.…”

Section: Discussionsupporting

confidence: 88%

Intronic variant of EGFR is associated with GBAS expression and survival outcome of early‐stage non‐small cell lung cancer

et al. 2018

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BackgroundGenome‐wide association studies have indicated that most of the currently identified disease and trait‐associated single nucleotide polymorphisms (SNPs) are intronic or intergenic. RegulomeDB is a recently developed database that provides functional annotations for regulatory features of SNPs located in non‐coding regions. We evaluated the potential regulatory SNPs in the EGFR gene region using RegulomeDB and their associations with prognosis after surgery in non‐small cell lung cancer (NSCLC) patients.MethodsA total of 698 patients with surgically resected NSCLC were enrolled and seven SNPs were selected based on the RegulomeDB database. All SNPs were genotyped using SEQUENOM MassARRAY iPLEX assay.ResultsAmong the seven SNPs evaluated, rs9642391 (EGFR ivs19+2851C>G) was significantly associated with survival outcome (adjusted hazard ratio [HR] for overall survival = 0.70, 95% confidence interval [CI] 0.56–0.87, P = 0.001; adjusted HR for disease‐free survival = 0.82, 95% CI 0.70–0.97, P = 0.02; under a codominant model). According to RegulomeDB, rs9642391C>G, which is located in intron 19 of EGFR, was predicted to influence the expression of GBAS but not EGFR. As predicted, rs9642391C>G was associated with GBAS (P = 0.024) but not EGFR messenger RNA expression in tumor tissues.ConclusionIn conclusion, our study provides evidence that rs9642391C>G in the intron of EGFR is associated with GBAS expression and survival outcomes of patients with surgically resected early‐stage NSCLC.

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Section: Discussionsupporting

confidence: 88%

Intronic variant of EGFR is associated with GBAS expression and survival outcome of early‐stage non‐small cell lung cancer

et al. 2018

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“…The EGFR signaling pathway regulates a wide range of cellular activities associated with cell growth, migration and survival [ 12 ]. Several previous studies have assessed single nucleotide polymorphisms (SNPs) in the EGFR gene that is implicated in human tumors, such as breast cancer [ 13 ], lung cancer [ 14 ] and prostate cancer [ 15 ]. And several studies have demonstrated that certain genotypes of the EGFR gene may be related to glioma susceptibility, which indicated EGFR polymorphisms play an important role in the carcinogensis of glioma [ 11 , 16 ].…”

Section: Discussionmentioning

confidence: 99%

A case-control study of the association between the EGFR gene and glioma risk in a Chinese Han population

Yan

et al. 2017

Oncotarget

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The Epidermal Growth Factor Receptor gene has been reported to be involved in the progression of gliomas which is one of the deadliest primary brain tumors in humans. To determine potential association between EGFR and glioma risk, we performed a case-control study with 394 glioma patients and 298 cancer-free controls in which captured a total of 8 tag single nucleotide polymorphisms of EGFR gene from Xi’an, China. SPSS 19.0 statistical packages, χ2 test, genetic model analysis and SHEsis software platform were analyzed s the variants in EGFR gene associations with glioma risk. For five different inheritance models analyzed, the following genotypes were associated with increased glioma risk. In the codominant model, genotype CC (rs730437, OR = 1.93, p = 0.024; rs1468727, OR = 2.02, p = 0.007); In the dominant model, genotype CA and CC (rs730437, OR = 1.45, p = 0.026), genotype GA and AA (rs845552, OR = 1.40, p = 0.044); In the recessive model, genotype CC (rs730437, OR = 1.64, p = 0.026; rs1468727, OR = 1.87, p = 0.002); In the additive model, genotype CC (rs730437, OR = 1.32, p = 0.006; rs1468727, OR = 1.39, p = 0.005), genotype GG (rs11506105, OR = 1.32, p = 0.02) and genotype AA (rs845552, OR = 1.27, p = 0.04). Our study indicated that 8 mutants located in EGFR gene were risk-conferring factors, larger and different populations with EGFR polymorphisms are required to verify these associations.

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“…It is possible that these SNPs are associated with increased receptor activation, EGFR expression or stability, which could increase cancer risk by promoting cell proliferation. Interestingly, one study showed that the G/G genotype of rs845552 was associated with increased survival rin Hispanic and non-Hispanic white breast cancer patients, but no anything association between rs3752651 and the prognosis of breast cancer patients was observed [ 8 ]. Similarly, rs3752651 was not significantly associated with non-small cell lung cancer survival in a Chinese population [ 10 ].…”

Section: Discussionmentioning

confidence: 99%

“…Most gliomas result from the combined action of environmental factors and inherited genetic variations. Many studies have suggested that genetic polymorphisms in the epidermal growth factor receptor ( EGFR ) are associated with risk of glioma [ 5 – 7 ], breast cancer [ 8 ], colorectal adenoma and colorectal cancer [ 9 ], and non-small cell lung cancer [ 10 ].…”

Section: Introductionmentioning

confidence: 99%

Effect of epidermal growth factor receptor gene polymorphisms on prognosis in glioma patients

Zhao²,

et al. 2016

Oncotarget

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Previous studies suggested that single nucleotide polymorphisms (SNPs) in epidermal growth factor receptor (EGFR) are associated with risk of glioma. However, the associations between these SNPs and glioma patient prognosis have not yet been fully investigated. Therefore, the present study was aimed to evaluate the effects of EGFR polymorphisms on the glioma patient prognosis. We retrospectively evaluated 269 glioma patients and investigated associations between EGFR SNPs and patient prognosis using Cox proportional hazard models and Kaplan-Meier curves. Univariate analysis revealed that age, gross-total resection and chemotherapy were associated with the prognosis of glioma patients (p < 0.05). In addition, four EGFR SNPs (rs11506105, rs3752651, rs1468727 and rs845552) correlated with overall survival (OS) (Log-rank p = 0.011, 0.020, 0.008, and 0.009, respectively) and progression-free survival PFS (Log-rank p = 0.026, 0.024, 0.019 and 0.009, respectively). Multivariate analysis indicated that the rs11506105 G/G genotype, the rs3752651 and rs1468727 C/C genotype and the rs845552 A/A genotype correlated inversely with OS and PFS. In addition, OS among patients with the rs730437 C/C genotype (p = 0.030) was significantly lower OS than among patients with A/A genotype. These data suggest that five EGFR SNPs (rs11506105, rs3752651, rs1468727, rs845552 and rs730437) correlated with glioma patient prognosis, and should be furthered validated in studies of ethnically diverse patients.

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Epidermal Growth Factor Receptor Polymorphisms and Breast Cancer Among Hispanic and Non-Hispanic White Women: The Breast Cancer Health Disparities Study

Cited by 7 publications

References 0 publications

Intronic variant of EGFR is associated with GBAS expression and survival outcome of early‐stage non‐small cell lung cancer

Intronic variant of EGFR is associated with GBAS expression and survival outcome of early‐stage non‐small cell lung cancer

A case-control study of the association between the EGFR gene and glioma risk in a Chinese Han population

Effect of epidermal growth factor receptor gene polymorphisms on prognosis in glioma patients

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