Common genetic variants of TP53 and BRCA2 in esophageal cancer patients and healthy individuals from low and high risk areas of northern China

被引:29
作者
Hu, N
Li, WJ
Su, H
Wang, CY
Goldstein, AM
Albert, PS
Emmert-Buck, MR
Kong, LH
Roth, MJ
Dawsey, SM
He, LJ
Cao, SF
Ding, T
Giffen, C
Taylor, PR
机构
[1] NCI, Canc Prevent Studies Branch, Ctr Canc Res, Bethesda, MD 20892 USA
[2] Shanxi Canc Hosp, Taiyuan 030013, Shanxi, Peoples R China
[3] Natl Vaccine & Serum Inst, Beijing 100024, Peoples R China
[4] NCI, Genet Epidemiol Branch, Div Canc Epidemiol & Genet, Bethesda, MD 20892 USA
[5] NCI, Biometr Res Branch, Div Canc Treatment & Diag, Bethesda, MD 20892 USA
[6] NCI, Pathol Lab, Ctr Canc Res, Bethesda, MD 20892 USA
[7] Yangcheng Canc Hosp, Shanxi 048100, Peoples R China
[8] Informat Management Serv Inc, Silver Spring, MD 20904 USA
来源
CANCER DETECTION AND PREVENTION | 2003年 / 27卷 / 02期
关键词
esophageal cancers; TP53; BRCA2; polymorphisms; cancer risk; China;
D O I
10.1016/S0361-090X(03)00031-X
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
TP53 and BRCA2 are frequently mutated in cancer and polymorphisms of these genes may modify cancer risk. We used SSCP and DNA sequencing to assess and compare frequencies of R72P (TP53) and 5UTR203G>A, N372H, and K1132K (BRCA2) polymorphisms in healthy Chinese subjects at varying risk for esophageal squamous cell carcinoma (ESCC) and in ESCC patients. Suggestive overall differences in the distributions of genotypes by risk groups were seen for all genotypes except K1132K. Differences in R72P and N372H were most likely a reflection of lack of Hardy-Weinberg equilibrium (HWE), however, the difference in 203G>A was due to low prevalence of GG in ESCC patients (0.22 versus 0.36 in high risk group (P = 0.047), and 0.22 versus 0.40 in low risk group (P = 0.010)), consistent with a disease association. These data suggest that the 203G>A polymorphism in BRCA2 may be associated with risk of ESCC. Published by Elsevier Science Ltd. on behalf of International Society for Preventive Oncology.
引用
收藏
页码:132 / 138
页数:7
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