Association of a common AKAP9 variant with breast cancer risk: a collaborative analysis. Export

@article{citeulike:4165621, abstract = {Data from several studies have suggested that polymorphisms in A-kinase anchoring proteins (AKAPs), which are key components of signal transduction, contribute to carcinogenesis. To evaluate the impact of AKAP variants on breast cancer risk, we genotyped six nonsynonymous single-nucleotide polymorphisms that were predicted to be deleterious and found two (M463I, 1389G>T and N2792S, 8375A>G) to be associated with an allele dose-dependent increase in risk of familial breast cancer in a German population. We extended the analysis of AKAP9 M463I, which is in strong linkage disequilibrium with AKAP9 N2792S, to 9523 breast cancer patients and 13770 healthy control subjects from seven independent European and Australian breast cancer studies. All statistical tests were two-sided. The collaborative analysis confirmed the association of M463I with increased breast cancer risk. Among all breast cancer patients, the combined adjusted odds ratio (OR) of breast cancer for individuals homozygous for the rare allele TT (frequency = 0.19) compared with GG homozygotes was 1.17 (95\% confidence interval [CI] = 1.08 to 1.27, P = .0003), and the OR for TT homozygotes plus GT heterozygotes compared with GG homozygotes was 1.10 (95\% CI = 1.04 to 1.17, P = .001). Among the combined subset of 2795 familial breast cancer patients, the respective ORs were 1.27 (95\% CI = 1.12 to 1.45, P = .0003) and 1.16 (95\% CI = 1.06 to 1.27, P = .001).}, author = {Frank, B. and Wiestler, M. and Kropp, S. and Hemminki, K. and Spurdle, A. B. and Sutter, C. and Wappenschmidt, B. and Chen, X. and Beesley, J. and Hopper, J. L. and {} and Meindl, A. and Kiechle, M. and Slanger, T. and Bugert, P. and Schmutzler, R. K. and Bartram, C. R. and Flesch-Janys, D. and Mutschelknauss, E. and Ashton, K. and Salazar, R. and Webb, E. and Hamann, U. and Brauch, H. and Justenhoven, C. and Ko, Y. D. and Br\"{u}ning, T. and Silva, I. d. o. s. . S. and Johnson, N. and Pharoah, P. P. and Dunning, A. M. and Pooley, K. A. and Chang-Claude, J. and Easton, D. F. and Peto, J. and Houlston, R. and {} and Chenevix-Trench, G. and Fletcher, O. and Burwinkel, B.}, citeulike-article-id = {4165621}, citeulike-linkout-0 = {http://view.ncbi.nlm.nih.gov/pubmed/18334708}, citeulike-linkout-1 = {http://www.hubmed.org/display.cgi?uids=18334708}, day = {19}, issn = {1460-2105}, journal = {Journal of the National Cancer Institute}, keywords = {humgen, nssnps}, month = {March}, number = {6}, pages = {437--442}, posted-at = {2009-03-11 15:20:24}, priority = {2}, title = {Association of a common AKAP9 variant with breast cancer risk: a collaborative analysis.}, url = {http://view.ncbi.nlm.nih.gov/pubmed/18334708}, volume = {100}, year = {2008} }

TY - JOUR ID - citeulike:4165621 L3 - citeulike-article-id:4165621 N2 - Data from several studies have suggested that polymorphisms in A-kinase anchoring proteins (AKAPs), which are key components of signal transduction, contribute to carcinogenesis. To evaluate the impact of AKAP variants on breast cancer risk, we genotyped six nonsynonymous single-nucleotide polymorphisms that were predicted to be deleterious and found two (M463I, 1389G>T and N2792S, 8375A>G) to be associated with an allele dose-dependent increase in risk of familial breast cancer in a German population. We extended the analysis of AKAP9 M463I, which is in strong linkage disequilibrium with AKAP9 N2792S, to 9523 breast cancer patients and 13770 healthy control subjects from seven independent European and Australian breast cancer studies. All statistical tests were two-sided. The collaborative analysis confirmed the association of M463I with increased breast cancer risk. Among all breast cancer patients, the combined adjusted odds ratio (OR) of breast cancer for individuals homozygous for the rare allele TT (frequency = 0.19) compared with GG homozygotes was 1.17 (95% confidence interval [CI] = 1.08 to 1.27, P = .0003), and the OR for TT homozygotes plus GT heterozygotes compared with GG homozygotes was 1.10 (95% CI = 1.04 to 1.17, P = .001). Among the combined subset of 2795 familial breast cancer patients, the respective ORs were 1.27 (95% CI = 1.12 to 1.45, P = .0003) and 1.16 (95% CI = 1.06 to 1.27, P = .001). IS - 6 JF - Journal of the National Cancer Institute SN - 1460-2105 EP - 442 TI - Association of a common AKAP9 variant with breast cancer risk: a collaborative analysis. VL - 100 SP - 437 KW - humgen KW - nssnps AU - Frank, B AU - Wiestler, M AU - Kropp, S AU - Hemminki, K AU - Spurdle, AB AU - Sutter, C AU - Wappenschmidt, B AU - Chen, X AU - Beesley, J AU - Hopper, JL AU - Meindl, A AU - Kiechle, M AU - Slanger, T AU - Bugert, P AU - Schmutzler, RK AU - Bartram, CR AU - Flesch-Janys, D AU - Mutschelknauss, E AU - Ashton, K AU - Salazar, R AU - Webb, E AU - Hamann, U AU - Brauch, H AU - Justenhoven, C AU - Ko, YD AU - Brüning, T AU - Silva, Idos S AU - Johnson, N AU - Pharoah, PP AU - Dunning, AM AU - Pooley, KA AU - Chang-Claude, J AU - Easton, DF AU - Peto, J AU - Houlston, R AU - Chenevix-Trench, G AU - Fletcher, O AU - Burwinkel, B PY - 2008/03/19/ UR - http://view.ncbi.nlm.nih.gov/pubmed/18334708 ER -