Full sequencing analysis of estrogen receptor-alpha gene polymorphism and its association with breast cancer risk.
BACKGROUND
The estrogen receptor plays a critical role in breast cancer development and progression. So the genetic polymorphism of ER-alpha gene could affect cancer risk and phenotype.


METHODS
We fully sequenced the ER-alpha gene to investigate its single nucleotide polymorphisms (SNPs) in 100 breast cancer patients and 100 controls.


RESULTS
Six novel polymorphism in the control and 11 in cancer patients were found. The G/G genotype at C975 G and A/A genotype at G1782 A had a protective effect against breast cancer when compared to other genotypes (OR = 0.3 and 0.3, respectively). 975G allele was associated inversely with the p53 expression and positively with the bcl-2 expression in cancer with borderline significance. Combining this result with our previous study, these associations became more significant (p = 0.005 and 0.019, respectively).


CONCLUSIONS
Polymorphisms in ER-alpha gene can affect the breast cancer susceptibility and may be related to other protein expression, such as p53 and bcl-2.
Department of Surgery, Seoul National University College of Medicine, 28 Yongon-dong, Chongno-gu, Seoul 110-744, Korea.
Wonshik
W
Han
Daehee
D
Kang
Kyung-Moo
KM
Lee
Hee Joung
HJ
Kim
Soo-Jung
SJ
Ahn
Seok Won
SW
Kim
Ki-Wook
KW
Chung
Eun Sook
ES
Lee
Dong-Young
DY
Noh
D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001483:Base Sequence; D001943:Breast Neoplasms / Q000453:epidemiology* / Q000235:genetics*; D017931:DNA Primers; D047628:Estrogen Receptor alpha; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D011960:Receptors, Estrogen / Q000235:genetics*; D012016:Reference Values; D012306:Risk
D017931:DNA Primers; D047628:Estrogen Receptor alpha; D011960:Receptors, Estrogen