Analysis of Estrogen Receptor Polymorphism in Codon 325 by PCR-SSCP in Breast Cancer: Association With Lymph Node Metastasis

Vasconcelos, André; Medeiros, Rui; Veiga, Isabel; Pereira, Deolinda; Carrilho, S.; Palmeira, Carlos; Azevedo, Cândida; Lopes, Carlos

doi:10.1046/j.1524-4741.2002.08407.x

Cited by 31 publications

(7 citation statements)

References 7 publications

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“…In the literature, this SNP was investigated especially in relationship with breast cancer but the results were not convergent: some studies found the G allele protective [47] while other studies found increased risk with G allele [49][50][51] and another found no risk [52,53] or found a risk only when included this polymorphisms in haplotypes [41,54,55]. In our study, we found the minor allele G protective for the total number of cancer cases.…”

Section: Discussioncontrasting

confidence: 74%

Estrogen Receptor Alpha Polymorphisms and the Risk of Malignancies

Anghel

Nariţa

Șeclăman

et al. 2010

Pathol. Oncol. Res.

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Estrogens represent risk factors for endocrinerelated cancers and play also an important role in the development and progression of other malignancies. In order to analyze the associations between estrogen receptor gene alpha polymorphisms and cancers susceptibility, we genotyped six single nucleotide polymorphisms (SNPs) in 163 Caucasian cancer patients-103 breast cancers and 60 other malignancies (colorectal, bladder, hepatocellular carcinoma and acute myeloid leukemia)-and 114 healthy controls using hybridization probes. We performed Armitage`s association trend-test to evaluate the risk. Linkage disequilibrium (LD) was assessed for each pair of markers. The genotypes CC and CT of rs3798577 were significantly associated with the cancers risk (p-trend breast =4×10 -5

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Section: Discussioncontrasting

confidence: 74%

Estrogen Receptor Alpha Polymorphisms and the Risk of Malignancies

Anghel

Nariţa

Șeclăman

et al. 2010

Pathol. Oncol. Res.

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“…According to FASTSNP prediction report, the C allele of rs1801132 disrupts also the binding site for GATA-1 and GATA-2 transcription factor. In the literature, the results were divergent: some studies found the G allele protective [38] while other studies found increased risk with G allele [40][41][42]; other studies found no risk [43][44] or found risk only when included this polymorphisms in haplotypes [33,[45][46]. In our study, rs1801132 showed a trend to be associated with the age at diagnosis (genotype 11 associated with onset of cancer after 50 years, p=0.024), hypercholesterolemia (p=0.003) and increased BMI (p=0.01).…”

Section: Discussionmentioning

confidence: 99%

Estrogen receptor alpha polymorphisms: correlation with clinicopathological parameters in breast cancer

Anghel¹,

Raica²,

Nariţa³

et al. 2010

neo

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Polymorphisms in estrogen receptor alpha gene (ESR1) have been previously associated with breast cancer risk; however, the results were not fully consistent. Our purpose was to study interactions between common genotypes in ESR1, breast cancer risk and tumor phenotypes. 6 ESR1 single nucleotide polymorphisms (SNPs) were genotyped in 103 breast cancer patients and 90 controls using hybridization probes; the genotypes were correlated with known prognostic factors for breast cancer and 5 years-follow up data. To assess estrogen and progesterone receptors (ER, PR) and HER2/neu expressions, immunohistochemistry was performed. Our results showed that rs3798577 was significantly associated with the risk of breast cancer, the common allele C conferring susceptibility (p-trend=4x10 -5 ); rs3798577 was also correlated with PR expression (p=0.01), but not with ER expression; rs2228480 (p=0.047) and rs1801132 (p=0.02) were associated with the age at diagnosis; rs1801132 was correlated with hypercholesterolemia (p=0.003) and increased BMI (body mass index) (p=0.01); rs2234693 showed a low significant association (p=0.042) with the tumor grade; rs3798577 was correlated with disease-free survival (p=0.05), allele C conferring increased risk for relapses, but it reached not statistical significance after adjustments. In conclusions, we identified four genotypes significantly correlated with either the risk or some tumor characteristics, suggesting that the main selection criteria of the investigated SNPs (frequency and the position in modulating domains of the gene) are pertinent instruments for establish correlations between the gene structure and the tumor phenotype.

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“…Vasconcelos et al [21] suggested that there was a relationship between the ESR1 P325P polymorphism and breast cancer risk (cases = 70 and controls = 69; OR, 2.3; 95% CI, 1.1- [3,15]. Akisik et al [22] observed no significant difference between patients and control groups for the ESR1 T594T (cases = 149 and controls = 153; OR, 1.6; 95% CI, 0.3-9.4).…”

Section: Discussionmentioning

confidence: 99%

Combined genetic effect of CDK7 and ESR1 polymorphisms on breast cancer

Jeon

Choi

Lee

et al. 2009

Breast Cancer Res Treat

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Breast cancer development is related to genes regulating cell cycle progression such as CCND1, CDK7, and ESR1. We conducted a hospital-based case-control study to evaluate the role of genetic polymorphisms in these genes in breast cancer development among Korean women. Questionnaire data and samples were obtained from 864 incident breast cancer cases and 723 controls recruited from 1995 to 2002. Four single nucleotide polymorphisms (SNPs) in three genes were genotyped by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry [CCND1 Ex4-1G>A (rs9344), CDK7 Ex2-28C>T (rs2972388), ESR1 P325P Ex4-122G>C (rs1801132), and ESR1 T594T Ex8+229G>A (rs2228480)], and their associations with breast cancer risk were assessed. The odds ratios (ORs) and 95% confidence intervals (CIs) were estimated by unconditional logistic regression analysis adjusted for age, education, age at the first full-term pregnancy, and family history of breast cancer. Women carrying the CDK7 TT genotype had increased risk of breast cancer (OR, 1.4; 95% CI, 1.1-1.7). There was no significant association between breast cancer risk and the genetic polymorphisms of CCND1 and ESR1. However, when CDK7 and ESR1 P325P were combined, women carrying both the CDK7 TT and ESR1 P325P CC genotypes showed increased breast cancer risk (OR, 1.7; 95% CI, 1.1-2.5; P for trend, <0.01). In conclusion, our findings suggest that the combined genotypes of CDK7 and ESR1 are associated with breast cancer risk among Korean women.

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Analysis of Estrogen Receptor Polymorphism in Codon 325 by PCR-SSCP in Breast Cancer: Association With Lymph Node Metastasis

Cited by 31 publications

References 7 publications

Estrogen Receptor Alpha Polymorphisms and the Risk of Malignancies

Estrogen Receptor Alpha Polymorphisms and the Risk of Malignancies

Estrogen receptor alpha polymorphisms: correlation with clinicopathological parameters in breast cancer

Combined genetic effect of CDK7 and ESR1 polymorphisms on breast cancer

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