1e02335b-f33b-4498-81ca-da4c4d240b8a
title
Estrogen receptor-alpha  polymorphism in a Taiwanese clinical breast cancer population: a case-control study.
dde6bc6c-b35e-4f2c-8c7a-2fe37880b9c2
abstract
INTRODUCTION: Receptor-mediated estrogen activation participates in the development and progression of breast cancer.  Estrogen receptor (ER)-alpha  polymorphism has been found to be associated with breast cancer and clinical features of the disease in Caucasians. Epidemiologic studies have revealed that age-incidence patterns of breast cancer in Asians differ from those in Caucasians. Genomic data for  ER-alpha  in either population is therefore of value in the clinical setting for that ethnic group. METHODS: A case-control study was conducted to establish a database of  ER-alpha  polymorphisms in a Taiwanese population in order to compare Western and Taiwanese (Asian) distributions and to evaluate  ER-alpha  polymorphism as an indicator of clinical outcome. The  ER-alpha  gene was scanned in a Taiwanese clinical breast cancer group (189 patients) and in healthy individuals (177 healthy control individuals). PCR single-strand conformation polymorphism technology was employed and real-time PCR melting curve analysis was performed. RESULTS: Three sites of silent single nucleotide polymorphism (SNPs) were found, as reported previously in Western studies, but at significantly different frequencies. Among the three SNPs, the frequency of allele 1  (TCT --> TCC) in codon 10  was significantly lower in breast cancer patients (32.0%) than in control individuals (40.4%; P = 0.018). We found that allele 1  (ACG --> ACA) in codon 594  was less common in breast cancer patients with a family history of breast cancer (5.9%) than in those without such a history (19.6%; P = 0.049). Individually, both allele 1 in  codon 325 (CCC --> CCG)  and allele 1 in  codon 594  exhibited a reverse association with the occurrence of lymph node metastasis. Furthermore, incorporation of both SNP markers further increased predictive accuracy. CONCLUSIONS: Our data suggest that  ER-alpha  polymorphisms are correlated with various aspects of breast cancer in Taiwan.  ER-alpha  genotype, as determined during presurgical evaluation, might represent a surrogate marker for predicting breast cancer lymph node metastasis.