ER-?gene polymorphisms and the risk of non-BRCA1/2 hereditary breast cancer
- VernacularTitle:ER-?基因多态性与无BRCA1／2基因突变的有遗传倾向的乳腺癌的关系
- Author:
Chuangui SONG
;
Zhen HU
;
Wentao YUAN
;
Genhong DI
;
Zhenzhou SHEN
;
Wei HUANG
;
Zhimin SHAO
- Publication Type:Journal Article
- Keywords:
Breast neoplasms;
Estrogen receptor alpha;
Genetic susceptibility to disease;
Polymorphism, genetic
- From:
Chinese Journal of General Surgery
2001;0(09):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective The present study was to explore association of PvuⅡand XbaⅠpolymorphism in ER-?gene with genetic susceptibility for breast cancer without BRCAl/2 gene mutation. Methods 113 BRCA1/2 negative hereditary breast cancer patients from independent families and 113 agematched healthy control subjects were analyzed. Genotype analysis was conducted by polymerase chain reaction (PCR) and then DNA direct sequencing. The odd-ratios (OR) and 95% confidence intervals (CI) was calculated by unconditional logistic regression model. Results The frequency of PvuⅡpolymorphism CC(PP) ,CT(Pp) ,TT(pp) genotype in patients was found in 16 cases(14.2% ), 58 cases(51. 3% ) , and 39 cases (34. 5% ). The distribution of AA (xx) , AG (Xx) , GG (XX) genotype of XbaⅠpolymorphism were found in 76 cases ( 67. 2% ) , 34 cases ( 30. 1% ), and 3 cases ( 2. 7% ) among patients. Among premenopausal women, CT genotype of PvuⅡconfered a significantly increased risk for breast cancer compared with CC genotype ( adjusted OR = 2. 07; 95% CI, 0. 68 - 6. 30) ; Carriers of GG of XbaⅠhad a decreased risk for breast cancer (adjusted OR =0. 11; 95 % CI, 0. 01 - 1. 27) compared with AA genotype. Furthermore, combined analysis of two polymorphisms indicated individuals carrying PvuⅡCT and XbaⅠAA genotype were at increased risk for breast cancer as compared with those with PvuⅡCC and XbaⅠGG genotype (Oft = 11.43, 95% CI, 1.12-116.7) among premenopausal women. Conclusions PvuⅡand XbaⅠpolymorphisms in ER-?gene could be a candidate locus for low penetrance breast cancer susceptibility in Chinese population, especially among premenopausal women.
