Transcription factor 7-like 2 (TCF7L2) variant is associated with familial breast cancer risk: a case-control study

被引:51
作者
Burwinkel, Barbara
Shanmugam, Kalai S.
Hemminki, Kari
Meindl, Alfons
Schmutzler, Rita K.
Sutter, Christian
Wappenschmidt, Barbara
Kiechle, Marion
Bartram, Claus R.
Frank, Bernd [1 ]
机构
[1] German Canc Res Ctr, DKFZ, Helmholtz Univ Grp Mol Epidemiol, D-6900 Heidelberg, Germany
[2] German Canc Res Ctr, DKFZ, Div Mol Genet Epidemiol, D-6900 Heidelberg, Germany
[3] Karolinska Inst, Ctr Family Med, Huddinge, Sweden
[4] Tech Univ, Klinikum Rechts Isar, Dept Obstet & Gynaecol, Munich, Germany
[5] Univ Cologne, Ctr Clin, Dept Obstet & Gynaecol, Div Mol Gynaecooncol, D-5000 Cologne, Germany
[6] Univ Hosp Cologne, CMMC, Cologne, Germany
[7] Univ Heidelberg, Inst Human Genet, Heidelberg, Germany
关键词
D O I
10.1186/1471-2407-6-268
中图分类号
R73 [肿瘤学];
学科分类号
100214 [肿瘤学];
摘要
Background: The transcription factor 7-like 2 (TCF7L2) is a critical component of the Wnt/beta-catenin pathway. Aberrant TCF7L2 expression modifies Wnt signaling and mediates oncogenic effects through the upregulation of c-MYC and cyclin D. Genetic alterations in TCF7L2 may therefore affect cancer risk. Recently, TCF7L2 variants, including the microsatellite marker DG10S478 and the nearly perfectly linked SNP rs12233372, were identified to associate with type 2 diabetes. Methods: We investigated the effect of the TCF7L2 rs12255372 variant on familial breast cancer ( BC) risk by means of TaqMan allelic discrimination, analyzing BRCA1/2 mutation-negative index patients of 592 German BC families and 735 control individuals. Results: The T allele of rs12255372 showed an association with borderline significance ( OR = 1.19, 95% C. I. = 1.01-1.42, P = 0.04), and the Cochran-Armitage test for trend revealed an allele dose-dependent association of rs12255372 with BC risk ( P-trend = 0.04). Conclusion: Our results suggest a possible influence of TCF7L2 rs12255372 on the risk of familial BC.
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页数:4
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