title: Polymorphisms in the estrogen receptor-alpha gene and breast cancer risk.
abstract: The estrogen receptor-alpha (ERalpha) has been known to play a role in the development and progression of breast cancer. Several genetic polymorphisms in the ERalpha gene have been related to breast cancer risk and/or different tumor characteristics. In this study, PCR and direct sequencing based methods were used to examine this issue further in a Korean study population consisting of 155 women, 110 with breast cancer and 45 without cancer. We also assessed the potential role of the ERalpha genotype in ER, PR, p53, c-erbB2, and bcl-2 expression. Only one of the allelic variants of ERalpha gene was found in our study subjects; the (C(975)G) change was present in half of the study subjects. Although this allele had no direct effect in individual breast cancer risk, it was positively associated with tumor PR (P for trend=0.04) and ER expression (P for trend=0.06) and negatively associated with p53 expression (P for trend=0.02).
authors.affiliation: Department of Surgery, Seoul National University College of Medicine, 28 Yongon-Dong, Chongno-Gu, Seoul 110-744, South Korea.
authors.forename: Hee Joon
authors.initials: HJ
authors.lastname: Kang
authors.forename: Sung Won
authors.initials: SW
authors.lastname: Kim
authors.forename: Hee Joung
authors.initials: HJ
authors.lastname: Kim
authors.forename: Soo Jung
authors.initials: SJ
authors.lastname: Ahn
authors.forename: Ji Yeon
authors.initials: JY
authors.lastname: Bae
authors.forename: Sue Kyung
authors.initials: SK
authors.lastname: Park
authors.forename: Daehee
authors.initials: D
authors.lastname: Kang
authors.forename: Ari
authors.initials: A
authors.lastname: Hirvonen
authors.forename: Kuk Jin
authors.initials: KJ
authors.lastname: Choe
authors.forename: Dong Young
authors.initials: DY
authors.lastname: Noh
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D001943:Breast Neoplasms / Q000209:etiology* / Q000235:genetics* / Q000378:metabolism; D047628:Estrogen Receptor alpha; D005260:Female; D006801:Humans; D007723:Korea; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000096:biosynthesis / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D011960:Receptors, Estrogen / Q000235:genetics*; D012306:Risk
chemical_list: D047628:Estrogen Receptor alpha; D009363:Neoplasm Proteins; D011960:Receptors, Estrogen