da27afa4-64c7-4d8f-9c0e-15f48773202f
title
Associations between breast cancer susceptibility gene polymorphisms and clinicopathological features.
1af3e59e-b4fe-4622-a2f4-648a563a27a2
abstract
PURPOSE: Genetic polymorphisms may affect not only cancer development but also cancer progression, and as a result could influence cancer phenotypes. The aim of this study was to examine the relationship between breast cancer susceptibility gene polymorphisms and clinicopathological features. Experimental Design: We genotyped 664 Korean primary breast cancer patients for 17 single-nucleotide polymorphisms (SNPs) in nine genes, using a high-throughput SNP scoring method. RESULTS:  CYP1A1  codon  462 Ile/Val  or Val/Val variants and the  CYP1B1  codon  432 Leu/Val  variant were found more in breast cancer patients </=35 years of age at onset than the common homozygote [odds ratio (OR), 1.6 and 1.7, respectively]. In combination analysis of these two SNPs, the OR was 1.9 when one of them was heterozygous or a rare homozygous form, and increased to 2.3 when both were variants (P = 0.006). Cases with  Ile/Val at CYP1A1 codon 462 CYP1A1  codon 462 were 2.6-fold and those with Val/Val were 5.1-fold more likely to have first-degree relatives with breast cancer than those with Ile/Ile (P = 0.002). In the haplotype study of  BRCA1 , the  2430C / 2731T / 3667G / 4427C / 4956G  homozygote showed less estrogen receptor negativity than the most common diplotype (OR, 0.5; 95% confidence interval, 0.26-0.94).  TP53  codon  72 Arg/Pro  or Pro/Pro variants were associated with negative axillary lymph node status (OR, 0.7; 95% confidence interval, 0.49-0.94). CONCLUSIONS: These results indicate that polymorphisms of some selected breast cancer susceptibility genes are associated with the clinicopathological phenotypes of breast cancer.