Polymorphisms in the estrogen receptor-alpha gene and breast cancer risk.
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).
Kang
Hee Joon
HJ
Department of Surgery, Seoul National University College of Medicine, 28 Yongon-Dong, Chongno-Gu, Seoul 110-744, South Korea.
Kim
Sung Won
SW
Kim
Hee Joung
HJ
Ahn
Soo Jung
SJ
Bae
Ji Yeon
JY
Park
Sue Kyung
SK
Kang
Daehee
D
Hirvonen
Ari
A
Choe
Kuk Jin
KJ
Noh
Dong Young
DY
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
D047628:Estrogen Receptor alpha; D009363:Neoplasm Proteins; D011960:Receptors, Estrogen