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

Frank, Bernd, Wiestler, Miriam, Kropp, Silke, Hemminki, Kari, Spurdle, Amanda B., Sutter, Christian, Wappenschmidt, Barbara, Chen, Xiaoqing, Beesley, Jonathan, Hopper, John L., Meindl, Alfons, Kiechle, Marion, Slanger, Tracy, Bugert, Peter, Schmutzler, Rita K., Bartram, Claus R., Flesch-Janys, Dieter, Mutschelknauss, Elke, Ashton, Katie, Salazar, Ramona, Webb, Emily, Hamann, Ute, Brauch, Hiltrud, Justenhoven, Christina, Ko, Yon-Dschun, Bruening, Thomas, Silva, Isabel dos Santos, Johnson, Nichola, Pharoah, Paul P. D., Dunning, Alison M., Pooley, Karen A., Chang-Claude, Jenny, Easton, Douglas F., Peto, Julian, Houlston, Richard, Chenevix-Trench, Georgia, Fletcher, Olivia and Burwinkel, Barbara (2008) Association of a common AKAP9 variant with breast cancer risk: A collaborative analysis. Journal of the National Cancer Institute, 100 6: 437-442. doi:10.1093/jnci/djn037


Author Frank, Bernd
Wiestler, Miriam
Kropp, Silke
Hemminki, Kari
Spurdle, Amanda B.
Sutter, Christian
Wappenschmidt, Barbara
Chen, Xiaoqing
Beesley, Jonathan
Hopper, John L.
Meindl, Alfons
Kiechle, Marion
Slanger, Tracy
Bugert, Peter
Schmutzler, Rita K.
Bartram, Claus R.
Flesch-Janys, Dieter
Mutschelknauss, Elke
Ashton, Katie
Salazar, Ramona
Webb, Emily
Hamann, Ute
Brauch, Hiltrud
Justenhoven, Christina
Ko, Yon-Dschun
Bruening, Thomas
Silva, Isabel dos Santos
Johnson, Nichola
Pharoah, Paul P. D.
Dunning, Alison M.
Pooley, Karen A.
Chang-Claude, Jenny
Easton, Douglas F.
Peto, Julian
Houlston, Richard
Chenevix-Trench, Georgia
Fletcher, Olivia
Burwinkel, Barbara
Title Association of a common AKAP9 variant with breast cancer risk: A collaborative analysis
Formatted title
Association of a common AKAP9 variant with breast cancer risk: A collaborative analysis
Journal name Journal of the National Cancer Institute   Check publisher's open access policy
ISSN 0027-8874
1460-2105
Publication date 2008-03-19
Sub-type Article (original research)
DOI 10.1093/jnci/djn037
Volume 100
Issue 6
Start page 437
End page 442
Total pages 6
Place of publication Oxford, United Kingdom
Publisher Oxford University Press
Language eng
Formatted 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).
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ
Additional Notes Published under Brief Communication

Document type: Journal Article
Sub-type: Article (original research)
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