Prediction of breast cancer risk based on common genetic variants in women of East Asian ancestry.
Prediction of breast cancer risk based on common genetic variants in women of East Asian ancestry.
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DOI：
10.1186/s13058-016-0786-1
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发表时间：
2016-12-08
期刊：
影响因子：
--
通讯作者：
Zheng W
中科院分区：
文献类型：
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作者：
Wen W;Shu XO;Guo X;Cai Q;Long J;Bolla MK;Michailidou K;Dennis J;Wang Q;Gao YT;Zheng Y;Dunning AM;García-Closas M;Brennan P;Chen ST;Choi JY;Hartman M;Ito H;Lophatananon A;Matsuo K;Miao H;Muir K;Sangrajrang S;Shen CY;Teo SH;Tseng CC;Wu AH;Yip CH;Simard J;Pharoah PD;Hall P;Kang D;Xiang Y;Easton DF;Zheng W
在全基因组关联研究（GWAS）中已经确定了大约100种常见的乳腺癌易感性等位基因。这些变异在乳腺癌风险预测模型中的效用尚未在亚洲血统的女性中得到充分评价。我们评估了GWAS先前在11，760例亚洲血统病例和11，612例对照中确定的88种乳腺癌风险变异。已证实与亚洲女性乳腺癌风险相关的SNPs被用于构建多基因风险评分（PRS）。根据PRS分布估计PRS量表的乳腺癌相对和绝对风险，并将妇女分为不同的乳腺癌风险水平。我们证实，在先前报道的78个位点中，有44个位点的SNPs与乳腺癌风险显著相关，P < 0.05。与PRS中间五分位的妇女相比，前1%组的妇女患乳腺癌的风险增加了2.70倍（95% CI：2.15-3.40）。采用PRS的风险预测模型的受试者操作特征曲线下面积为0.606。在PRS中最低和最高1%的上海中国妇女乳腺癌的终生危险度分别为1.35%和10.06%。大约一半的GWAS确定的乳腺癌风险变异可以在东亚妇女中直接复制。总的来说，常见的遗传变异是乳腺癌风险的重要预测因素。使用乳腺癌的常见遗传变异可以帮助识别乳腺癌高危女性。本文的在线版本（doi：10.1186/s13058-016-0786-1）包含补充材料，可供授权用户使用。
Approximately 100 common breast cancer susceptibility alleles have been identified in genome-wide association studies (GWAS). The utility of these variants in breast cancer risk prediction models has not been evaluated adequately in women of Asian ancestry. We evaluated 88 breast cancer risk variants that were identified previously by GWAS in 11,760 cases and 11,612 controls of Asian ancestry. SNPs confirmed to be associated with breast cancer risk in Asian women were used to construct a polygenic risk score (PRS). The relative and absolute risks of breast cancer by the PRS percentiles were estimated based on the PRS distribution, and were used to stratify women into different levels of breast cancer risk. We confirmed significant associations with breast cancer risk for SNPs in 44 of the 78 previously reported loci at P < 0.05. Compared with women in the middle quintile of the PRS, women in the top 1% group had a 2.70-fold elevated risk of breast cancer (95% CI: 2.15–3.40). The risk prediction model with the PRS had an area under the receiver operating characteristic curve of 0.606. The lifetime risk of breast cancer for Shanghai Chinese women in the lowest and highest 1% of the PRS was 1.35% and 10.06%, respectively. Approximately one-half of GWAS-identified breast cancer risk variants can be directly replicated in East Asian women. Collectively, common genetic variants are important predictors for breast cancer risk. Using common genetic variants for breast cancer could help identify women at high risk of breast cancer. The online version of this article (doi:10.1186/s13058-016-0786-1) contains supplementary material, which is available to authorized users.
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影响因子：
3.7
作者：
Park B;Ma SH;Shin A;Chang MC;Choi JY;Kim S;Han W;Noh DY;Ahn SH;Kang D;Yoo KY;Park SK
通讯作者：
Park SK
影响因子：
4.5
作者：
Long J;Cai Q;Shu XO;Qu S;Li C;Zheng Y;Gu K;Wang W;Xiang YB;Cheng J;Chen K;Zhang L;Zheng H;Shen CY;Huang CS;Hou MF;Shen H;Hu Z;Wang F;Deming SL;Kelley MC;Shrubsole MJ;Khoo US;Chan KY;Chan SY;Haiman CA;Henderson BE;Le Marchand L;Iwasaki M;Kasuga Y;Tsugane S;Matsuo K;Tajima K;Iwata H;Huang B;Shi J;Li G;Wen W;Gao YT;Lu W;Zheng W
通讯作者：
Zheng W
影响因子：
30.8
作者：
Zheng, Wei;Long, Jirong;Gao, Yu-Tang;Li, Chun;Zheng, Ying;Xiang, Yong-Bin;Wen, Wanqing;Levy, Shawn;Deming, Sandra L.;Haines, Jonathan L.;Gu, Kai;Fair, Alecia Malin;Cai, Qiuyin;Lu, Wei;Shu, Xiao-Ou
通讯作者：
Shu, Xiao-Ou
东亚人的全基因组关联研究确定了乳腺癌的新易感位点
影响因子：
4.5
作者：
Long J;Cai Q;Sung H;Shi J;Zhang B;Choi JY;Wen W;Delahanty RJ;Lu W;Gao YT;Shen H;Park SK;Chen K;Shen CY;Ren Z;Haiman CA;Matsuo K;Kim MK;Khoo US;Iwasaki M;Zheng Y;Xiang YB;Gu K;Rothman N;Wang W;Hu Z;Liu Y;Yoo KY;Noh DY;Han BG;Lee MH;Zheng H;Zhang L;Wu PE;Shieh YL;Chan SY;Wang S;Xie X;Kim SW;Henderson BE;Le Marchand L;Ito H;Kasuga Y;Ahn SH;Kang HS;Chan KY;Iwata H;Tsugane S;Li C;Shu XO;Kang DH;Zheng W
通讯作者：
Zheng W
影响因子：
30.8
作者：
通讯作者：
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