Genetic Polymorphisms in EGFR Gene: No Evidence for an Association with the Risk of Breast Cancer.

Abstract

EGFR expression is an important predictor of prognosis for breast cancer. An association of the EGFR expression breast tumor with the prognosis suggest that germline polymorphisms in the gene also may be associated with the risk of breast cancer. The published studies on the association of the genetic polymorphisms in the EGFR gene are conflicting.We genotyped 15 SNPs in the EGFR gene region: rs11506105, rs11543848, rs12674036, rs1558544, rs2072454, rs2075109, rs4947986, rs6965469, rs6969537, rs759171, rs7801956, rs4947963, rs747322, rs17172451, and rs1554718 in 500 Caucasian breast cancer patients and 500 matched controls to assess the association of the SNPs with the risk of breast cancer. SNPs were selected based on the LD pattern in the region and how close they are located to exons and promoter. Additionally we analyzed an extremely polymorphic CA repeat (rs11568315) located in the regulatory region of the gene. This polymorphic repeat has 11 alleles (alleles were defined by the number of the CA repeats, 14-23).We conducted pooled analysis and also stratified subjects by menopausal status. We have not found any significant association of the polymorphism with breast cancer risk. We were not able to confirm the previous finding that the increased number of the CA repeats in the rs11568315 was associated with elevated breast cancer risk. In conclusion, despite the fact that the expression of EGFR in breast cancer is an important predictor of progression, we found no evidence that germline polymorphisms in the gene are associated with the increased risk of breast cancer. The study was supported by 1R03CA128025-01A1 grant.Citation Information: Cancer Res 2009;69(24 Suppl):Abstract nr 3060.