IR@PKUHSC  > 北京大学基础医学院  > 病理学系
学科主题基础医学
Association of Germline Variation in CCNE1 and CDK2 with Breast Cancer Risk, Progression and Survival among Chinese Han Women
Han, Ji-Yuan1; Wang, Hui1; Xie, Yun-Tao2; Li, Yan1; Zheng, Li-Yuan1; Ruan, Yuan1; Song, Ai-Ping1; Tian, Xin-Xia1; Fang, Wei-Gang1
刊名PLOS ONE
2012-11-21
DOI10.1371/journal.pone.0049296
7期:11
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Multidisciplinary Sciences
研究领域[WOS]Science & Technology - Other Topics
关键词[WOS]SINGLE-NUCLEOTIDE POLYMORPHISMS ; CYCLE CONTROL GENES ; OVARIAN-CANCER ; LINKAGE DISEQUILIBRIUM ; BLADDER-CANCER ; HUMAN GENOME ; LUNG-CANCER ; SUSCEPTIBILITY ; POPULATION ; VARIANTS
英文摘要

Background: Somatic alterations of cyclin-dependent kinase 2 (CDK2)-cyclin E complex have been shown to contribute to breast cancer (BC) development and progression. This study aimed to explore the effects of single nucleotide polymorphisms (SNPs) in CDK2 and CCNE1 (a gene encoding G1/S specific cyclin E1 protein, formerly called cyclin E) on BC risk, progression and survival in a Chinese Han population.

Methodology/Principal Findings: We herein genotyped 6 haplotype-tagging SNPs (htSNPs) of CCNE1 and 2 htSNPs of CDK2 in 1207 BC cases and 1207 age-matched controls among Chinese Han women, and then reconstructed haplotype blocks according to our genotyping data and linkage disequilibrium status of these htSNPs. For CCNE1, the minor allele homozygotes of three htSNPs were associated with BC risk (rs3218035: adjusted odds ratio [aOR] = 3.35, 95% confidence interval [CI] = 1.69-6.67; rs3218038: aOR = 1.81, 95% CI = 1.22-2.70; rs3218042: aOR = 2.64, 95% CI = 1.31-5.34), and these three loci showed a dose-dependent manner in increasing BC risk (P-trend = 0.0001). Moreover, the 5-SNP haplotype CCGTC, which carried none of minor alleles of the 3 at-risk SNPs, was associated with a favorable event-free survival (hazard ratio [HR] = 0.53, 95% CI = 0.32-0.90). Stratified analysis suggested that the minor-allele homozygote carriers of rs3218038 had a worse event-free survival among patients with aggressive tumours (in tumour size >2 cm group: HR = 2.06, 95% CI = 1.06-3.99; in positive lymph node metastasis group: HR = 2.41, 95% CI = 1.15-5.03; in stage II-IV group: HR = 2.03, 95% CI = 1.09-3.79). For CDK2, no significant association was found.

Conclusions/Significance: This study indicates that genetic variants in CCNE1 may contribute to BC risk and survival in Chinese Han population. They may become molecular markers for individual evaluation of BC susceptibility and prognosis. Nevertheless, further validation studies are needed.

语种英语
WOS记录号WOS:000311821000038
项目编号81171961 ; 30670805 ; 108003
资助机构National Natural Science Foundation of China ; Chinese Ministry of Education ; Beijing Municipal Education Commission
引用统计
被引频次:9[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
版本出版稿
条目标识符http://ir.bjmu.edu.cn/handle/400002259/66779
专题北京大学基础医学院_病理学系
北京大学医学部管理机构_主任办公室党委办公室
北京大学基础医学院
作者单位1.Peking Univ, Dept Pathol, Key Lab Carcinogenesis & Translat Res, Sch Basic Med Sci,Minist Educ,Hlth Sci Ctr, Beijing 100871, Peoples R China
2.Peking Univ, Breast Ctr, Sch Oncol, Beijing Canc Hosp & Inst, Beijing 100871, Peoples R China
推荐引用方式
GB/T 7714
Han, Ji-Yuan,Wang, Hui,Xie, Yun-Tao,et al. Association of Germline Variation in CCNE1 and CDK2 with Breast Cancer Risk, Progression and Survival among Chinese Han Women[J]. PLOS ONE,2012,7(11).
APA Han, Ji-Yuan.,Wang, Hui.,Xie, Yun-Tao.,Li, Yan.,Zheng, Li-Yuan.,...&Fang, Wei-Gang.(2012).Association of Germline Variation in CCNE1 and CDK2 with Breast Cancer Risk, Progression and Survival among Chinese Han Women.PLOS ONE,7(11).
MLA Han, Ji-Yuan,et al."Association of Germline Variation in CCNE1 and CDK2 with Breast Cancer Risk, Progression and Survival among Chinese Han Women".PLOS ONE 7.11(2012).
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