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Your search keyword '"Spurdle, Amanda B."' showing total 2 results
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2 results on '"Spurdle, Amanda B."'

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

Author

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

Subjects
Adult, Aged, Alleles, Australia epidemiology, Breast Neoplasms epidemiology, Case-Control Studies, Europe epidemiology, Female, Genetic Predisposition to Disease, Germany epidemiology, Humans, Isoleucine, Linkage Disequilibrium, Methionine, Middle Aged, Research Design, Risk Assessment, Risk Factors, White People genetics, A Kinase Anchor Proteins genetics, Breast Neoplasms genetics, Cytoskeletal Proteins genetics, Polymorphism, Single Nucleotide
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).

Published
2008
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2. Genome-wide association study identifies novel breast cancer susceptibility loci.

Author

Easton DF, Pooley KA, Dunning AM, Pharoah PD, Thompson D, Ballinger DG, Struewing JP, Morrison J, Field H, Luben R, Wareham N, Ahmed S, Healey CS, Bowman R, Meyer KB, Haiman CA, Kolonel LK, Henderson BE, Le Marchand L, Brennan P, Sangrajrang S, Gaborieau V, Odefrey F, Shen CY, Wu PE, Wang HC, Eccles D, Evans DG, Peto J, Fletcher O, Johnson N, Seal S, Stratton MR, Rahman N, Chenevix-Trench G, Bojesen SE, Nordestgaard BG, Axelsson CK, Garcia-Closas M, Brinton L, Chanock S, Lissowska J, Peplonska B, Nevanlinna H, Fagerholm R, Eerola H, Kang D, Yoo KY, Noh DY, Ahn SH, Hunter DJ, Hankinson SE, Cox DG, Hall P, Wedren S, Liu J, Low YL, Bogdanova N, Schürmann P, Dörk T, Tollenaar RA, Jacobi CE, Devilee P, Klijn JG, Sigurdson AJ, Doody MM, Alexander BH, Zhang J, Cox A, Brock IW, MacPherson G, Reed MW, Couch FJ, Goode EL, Olson JE, Meijers-Heijboer H, van den Ouweland A, Uitterlinden A, Rivadeneira F, Milne RL, Ribas G, Gonzalez-Neira A, Benitez J, Hopper JL, McCredie M, Southey M, Giles GG, Schroen C, Justenhoven C, Brauch H, Hamann U, Ko YD, Spurdle AB, Beesley J, Chen X, Mannermaa A, Kosma VM, Kataja V, Hartikainen J, Day NE, Cox DR, and Ponder BA

Subjects
Alleles, Apoptosis Regulatory Proteins, Asia, Southeastern, Australia, Case-Control Studies, Europe ethnology, Female, Genotype, High Mobility Group Proteins, Humans, MAP Kinase Kinase Kinase 1 genetics, Microfilament Proteins genetics, North America, Odds Ratio, Polymorphism, Single Nucleotide genetics, Receptor, Fibroblast Growth Factor, Type 2 genetics, Receptors, Progesterone genetics, Trans-Activators, Breast Neoplasms genetics, Genetic Predisposition to Disease genetics, Genome, Human genetics
Abstract

Breast cancer exhibits familial aggregation, consistent with variation in genetic susceptibility to the disease. Known susceptibility genes account for less than 25% of the familial risk of breast cancer, and the residual genetic variance is likely to be due to variants conferring more moderate risks. To identify further susceptibility alleles, we conducted a two-stage genome-wide association study in 4,398 breast cancer cases and 4,316 controls, followed by a third stage in which 30 single nucleotide polymorphisms (SNPs) were tested for confirmation in 21,860 cases and 22,578 controls from 22 studies. We used 227,876 SNPs that were estimated to correlate with 77% of known common SNPs in Europeans at r2 > 0.5. SNPs in five novel independent loci exhibited strong and consistent evidence of association with breast cancer (P < 10(-7)). Four of these contain plausible causative genes (FGFR2, TNRC9, MAP3K1 and LSP1). At the second stage, 1,792 SNPs were significant at the P < 0.05 level compared with an estimated 1,343 that would be expected by chance, indicating that many additional common susceptibility alleles may be identifiable by this approach.

Published
2007
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