Association of a common AKAP9 variant with breast cancer risk: a collaborative analysis.
Standard
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; Brüning, 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.
in: JNCI-J NATL CANCER I, Jahrgang 100, Nr. 6, 6, 2008, S. 437-442.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
Harvard
APA
Vancouver
Bibtex
}
RIS
TY - JOUR
T1 - Association of a common AKAP9 variant with breast cancer risk: a collaborative analysis.
AU - Frank, Bernd
AU - Wiestler, Miriam
AU - Kropp, Silke
AU - Hemminki, Kari
AU - Spurdle, Amanda B
AU - Sutter, Christian
AU - Wappenschmidt, Barbara
AU - Chen, Xiaoqing
AU - Beesley, Jonathan
AU - Hopper, John L
AU - Meindl, Alfons
AU - Kiechle, Marion
AU - Slanger, Tracy
AU - Bugert, Peter
AU - Schmutzler, Rita K
AU - Bartram, Claus R
AU - Flesch-Janys, Dieter
AU - Mutschelknauss, Elke
AU - Ashton, Katie
AU - Salazar, Ramona
AU - Webb, Emily
AU - Hamann, Ute
AU - Brauch, Hiltrud
AU - Justenhoven, Christina
AU - Ko, Yon-Dschun
AU - Brüning, Thomas
AU - Silva, Isabel Dos Santos
AU - Johnson, Nichola
AU - Pharoah, Paul P D
AU - Dunning, Alison M
AU - Pooley, Karen A
AU - Chang-Claude, Jenny
AU - Easton, Douglas F
AU - Peto, Julian
AU - Houlston, Richard
AU - Chenevix-Trench, Georgia
AU - Fletcher, Olivia
AU - Burwinkel, Barbara
PY - 2008
Y1 - 2008
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).
AB - 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).
M3 - SCORING: Zeitschriftenaufsatz
VL - 100
SP - 437
EP - 442
JO - JNCI-J NATL CANCER I
JF - JNCI-J NATL CANCER I
SN - 0027-8874
IS - 6
M1 - 6
ER -