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

B Frank; M Wiestler; S Kropp; K Hemminki; AB Spurdle; C Sutter; B Wappenschmidt; X Chen; J Beesley; JL Hopper; A Meindl; M Kiechle; T Slanger; P Bugert; RK Schmutzler; CR Bartram; D Flesch-Janys; E Mutschelknauss; K Ashton; R Salazar; E Webb; U Hamann; H Brauch; C Justenhoven; YD Ko; T Brüning; I Dos Santos Silva; N Johnson; PPD Pharoah; AM Dunning; KA Pooley; J Chang-Claude; DF Easton; J Peto; R Houlston; G Chenevix-Trench; O Fletcher; B Burwinkel; D Bowtell; A Green; P Webb; A DeFazio; D Gertig

Journal article

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

B Frank, M Wiestler, S Kropp, K Hemminki, AB Spurdle, C Sutter, B Wappenschmidt, X Chen, J Beesley, JL Hopper, A Meindl, M Kiechle, T Slanger, P Bugert, RK Schmutzler, CR Bartram, D Flesch-Janys, E Mutschelknauss, K Ashton, R Salazar Show all

Journal of the National Cancer Institute | OXFORD UNIV PRESS INC | Published : 2008

DOI: 10.1093/jnci/djn037

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 E..

View full abstract