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151. Comparison of 6q25 Breast Cancer Hits from Asian and\ud European Genome Wide Association Studies in the\ud Breast Cancer Association Consortium (BCAC)

Author: Hein, R., Maranian, M., Hopper, J.L., Kapuscinski, M.K., Southey, M.C., Park, D.J., Schmidt, M.K., Broeks, A., Hogervorst, F.B.L., Bueno-de-Mesquit, H.B., Muir, K.R., Lophatananon, A., Rattanamongkongul, S., Puttawibul, P., Fasching, P.A., Hein, A., Ekici, A.B., Beckmann, M.W., Fletcher, O., Johnson, N., Silva, I.D.S., Peto, J., Sawyer, E., Tomlinson, I., Kerin, M., Miller, N., Marmee, F., Schneeweiss, A., Sohn, C., Burwinkel, B., Guenel, P., Cordina-Duverger, E., Menegaux, F., Truong, T., Bojesen, S.E., Nordestgaard, B.G., Flyger, H., Milne, R.L., Arias Perez, J.I., Pilar Zamora, M., Benitez, J., Anton-Culver, H., Ziogas, A., Bernstein, L., Clarke, C.A., Brenner, H., Mueller, H., Arndt, V., Stegmaier, C., Rahman, N., Seal, S., Turnbull, C., Renwick, A., Meindl, A., Schott, S., Bartram, C.R., Schmutzler, R.K., Brauch, H., Hamann, U., Ko, Y-D., Wang-Gohrke, S., Doerk, T., Schuermann, P., Karstens, J.H., Hillemanns, P., Nevanlinna, H., Heikkinen, T., Aittomaki, K., Blomqvist, C., Bogdanova, N.V., Zalutsky, I.V., Antonenkova, N.N., Bermisheva, M., Prokovieva, D., Farahtdinova, A., Khusnutdinova, E., Lindblom, A., Margolin, S., Mannermaa, A., Kataja, V., Kosma, V-M., Hartikainen, J., Chen, X., Beesley, J., Lambrechts, D., Zhao, H., Neven, P., Wildiers, H., Nickels, S., Flesch-Janys, D., Radice, P., Peterlongo, P., Manoukian, S., Barile, M., Couch, F.J., Olson, J.E., Wang, X., Fredericksen, Z., Giles, G.G., Baglietto, L., McLean, C.A., Severi, G., Offit, K., Robson, M., Gaudet, M.M., Vijai, J., Alnaes, G.G., Kristensen, V., Borresen-Dale, A-L., John, E.M., Miron, A., Winqvist, R., Pylkas, K., Jukkola-Vuorinen, A., Grip, M., Andrulis, I.L., Knight, J.A., Glendon, G., Mulligan, A.M., Figueroa, J.D., Garcia-Closas, M., Lissowska, J., Sherman, M.E., Hooning, M., Martens, J.W.M., Seynaeve, C., Collee, M., Hall, P., Humpreys, K., Czene, K., Liu, J., Cox, A., Brock, I.W., Cross, S.S., Reed, M.W.R., Ahmed, S., Ghoussaini, M., Pharoah, P.D.P., Kang, D., Yoo, K-Y., Noh, D-Y., Jakubowska, A., Jaworska, K., Durda, K., Zlowocka, E., Sangrajrang, S., Gaborieau, V., Brennan, P., McKay, J., Shen, C-Y., Yu, J-C., Hsu, H-M., Hou, M-F., Orr, N., Schoemaker, M., Ashworth, A., Swerdlow, A., Trentham-Dietz, A., Newcomb, P.A., Titus, L., Egan, K.M., Chenevix-Trench, G., Antoniou, A.C., Humphreys, M.K., Morrison, J., Chang-Claude, J., Easton, D.F., Dunning, A.M., Network, GENICA, Investigators, K, and Group, AOCS
Abstract: The 6q25.1 locus was first identified via a genome-wide association study (GWAS) in Chinese women and marked by single\ud nucleotide polymorphism (SNP) rs2046210, approximately 180 Kb upstream of ESR1. There have been conflicting reports\ud about the association of this locus with breast cancer in Europeans, and a GWAS in Europeans identified a different SNP,\ud tagged here by rs12662670. We examined the associations of both SNPs in up to 61,689 cases and 58,822 controls from fortyfour\ud studies collaborating in the Breast Cancer Association Consortium, of which four studies were of Asian and 39 of European\ud descent. Logistic regression was used to estimate odds ratios (OR) and 95% confidence intervals (CI). Case-only analyses were\ud used to compare SNP effects in Estrogen Receptor positive (ER+) versus negative (ER2) tumours. Models including both SNPs\ud were fitted to investigate whether the SNP effects were independent. Both SNPs are significantly associated with breast cancer\ud risk in both ethnic groups. Per-allele ORs are higher in Asian than in European studies [rs2046210: OR (A/G) = 1.36 (95% CI 1.26–\ud 1.48), p = 7.6610214 in Asians and 1.09 (95% CI 1.07–1.11), p = 6.8610218 in Europeans. rs12662670: OR (G/T) = 1.29 (95% CI\ud 1.19–1.41), p = 1.261029 in Asians and 1.12 (95% CI 1.08–1.17), p = 3.861029 in Europeans]. SNP rs2046210 is associated with a\ud significantly greater risk of ER2 than ER+ tumours in Europeans [OR (ER2) = 1.20 (95% CI 1.15–1.25), p = 1.8610217 versus OR\ud (ER+) = 1.07 (95% CI 1.04–1.1), p = 1.361027\ud , pheterogeneity = 5.161026\ud ]. In these Asian studies, by contrast, there is no clear\ud evidence of a differential association by tumour receptor status. Each SNP is associated with risk after adjustment for the other\ud SNP. These results suggest the presence of two variants at 6q25.1 each independently associated with breast cancer risk in\ud Asians and in Europeans. Of these two, the one tagged by rs2046210 is associated with a greater risk of ER2 tumours.
Published: 2012

152. 19p13.1 Is a triple-negative-specific breast cancer susceptibility locus

Author: Stevens, K.N. Fredericksen, Z. Vachon, C.M. Wang, X. Margolin, S. Lindblom, A. Nevanlinna, H. Greco, D. Aittomak̈i, K. Blomqvist, C. Chang-Claude, J. Vrieling, A. Flesch-Janys, D. Sinn, H.-P. Wang-Gohrke, S. Nickels, S. Brauch, H. Ko, Y.-D. Fischer, H.-P. Schmutzler, R.K. Meindl, A. Bartram, C.R. Schott, S. Engel, C. Godwin, A.K. Weaver, J. Pathak, H.B. Sharma, P. Brenner, H. Mul̈ler, H. Arndt, V. Stegmaier, C. Miron, P. Yannoukakos, D. Stavropoulou, A. Fountzilas, G. Gogas, H.J. Swann, R. Dwek, M. Perkins, A. Milne, R.L. Benit́ez, J. Zamora, M.P. Peŕez, J.I.A. Bojesen, S.E. Nielsen, S.F. Nordestgaard, B.G. Flyger, H. Gueńel, P. Truong, T. Menegaux, F. Cordina-Duverger, E. Burwinkel, B. Marme, F. Schneeweiss, A. Sohn, C. Sawyer, E. Tomlinson, I. Kerin, M.J. Peto, J. Johnson, N. Fletcher, O. Dos Santos Silva, I. Fasching, P.A. Beckmann, M.W. Hartmann, A. Ekici, A.B. Lophatananon, A. Muir, K. Puttawibul, P. Wiangnon, S. Schmidt, M.K. Broeks, A. Braaf, L.M. Rosenberg, E.H. Hopper, J.L. Apicella, C. Park, D.J. Southey, M.C. Swerdlow, A.J. Ashworth, A. Nicholas, O. Schoemaker, M.J. Anton-Culver, H. Ziogas, A. Bernstein, L. Dur, C.C. Shen, C.-Y. Yu, J.-C. Hsu, H.-M. Hsiung, C.-N. Hamann, U. Dun̈nebier, T. Rud̈iger, T. Ulmer, H.U. Pharoah, P.P. Dunning, A.M. Humphreys, M.K. Wang, Q. Cox, A. Cross, S.S. Reed, M.W. Hall, P. Czene, K. Ambrosone, C.B. Ademuyiwa, F. Hwang, H. Eccles, D.M. Garcia-Closas, M. Figueroa, J.D. Sherman, M.E. Lissowska, J. Devilee, P. Seynaeve, C. Tollenaar, R.A.E.M. Hooning, M.J. Andrulis, I.L. Knight, J.A. Glendon, G. Mulligan, A.M. Winqvist, R. Pylkas̈, K. Jukkola-Vuorinen, A. Grip, M. John, E.M. Miron, A. Alnsæ, G.G. Kristensen, V. Brøresen-Dale, A.-L. Giles, G.G. Baglietto, L. McLean, C.A. Severi, G. Kosel, M.L. Pankratz, V.S. Slager, S. Olson, J.E. Radice, P. Peterlongo, P. Manoukian, S. Barile, M. Lambrechts, D. Hatse, S. Dieudonne, A.-S. Christiaens, M.-R. Chenevix-Trench, G. Beesley, J. Chen, X. Mannermaa, A. Kosma, V.-M. Hartikainen, J.M. Soini, Y. Easton, D.F. Couch, F.J.
Subjects: skin and connective tissue diseases
Abstract: The 19p13.1 breast cancer susceptibility locus is a modifier of breast cancer risk in BRCA1 mutation carriers and is also associated with the risk of ovarian cancer. Here, we investigated 19p13.1 variation and risk of breast cancer subtypes, defined by estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor-2 (HER2) status, using 48,869 breast cancer cases and 49,787 controls from the Breast Cancer Association Consortium (BCAC). Variants from 19p13.1 were not associated with breast cancer overall or with ER-positive breast cancer but were significantly associated with ER-negative breast cancer risk [rs8170 OR, 1.10; 95% confidence interval (CI), 1.05-1.15; P = 3.49 × 10-5] and triple-negative (ER-, PR-, and HER2-negative) breast cancer (rs8170: OR, 1.22; 95% CI, 1.13-1.31; P = 2.22 × 10-7). However, rs8170 was no longer associated with ERnegative breast cancer risk when triple-negative cases were excluded (OR, 0.98; 95% CI, 0.89-1.07; P = 0.62). In addition, a combined analysis of triple-negative cases from BCAC and the Triple Negative Breast Cancer Consortium (TNBCC; N = 3,566) identified a genome-wide significant association between rs8170 and triple-negative breast cancer risk (OR, 1.25; 95% CI, 1.18-1.33; P=3.31×10-13]. Thus, 19p13.1 is the first triple-negative- specific breast cancer risk locus and the first locus specific to a histologic subtype defined by ER, PR, and HER2 to be identified. These findings provide convincing evidence that genetic susceptibility to breast cancer varies by tumor subtype and that triple-negative tumors and other subtypes likely arise through distinct etiologic pathways. ©2012 AACR.
Published: 2012

153. Breast cancer risk and 6q22.33: Combined results from breast cancer association consortium and consortium of investigators on modifiers of brca1/2

Author: Kirchhoff, T., Gaudet, M.M., Antoniou, A.C., McGuffog, L., Humphreys, M.K., Dunning, A.M., Bojesen, S.E., Nordestgaard, B.G., Flyger, H., Kang, D., Yoo, K.Y., Noh, D.Y., Ahn, S.H., Dork, T., Schurmann, P., Karstens, J.H., Hillemanns, P., Couch, F.J., Olson, J., Vachon, C., Wang, X.S., Cox, A., Brock, I., Elliott, G., Reed, M.W.R., Burwinkel, B., Meindl, A., Brauch, H., Hamann, U., Ko, Y.D., Broeks, A., Schmidt, M.K., Veer, L.J. van 't, Braaf, L.M., Johnson, N., Fletcher, O., Gibson, L., Peto, J., Turnbull, C., Seal, S., Renwick, A., Rahman, N., Wu, P.E., Yu, J.C., Hsiung, C.N., Shen, C.Y., Southey, M.C., Hopper, J.L., Hammet, F., Dorpe, T. van, Dieudonne, A.S., Hatse, S., Lambrechts, D., Andrulis, I.L., Bogdanova, N., Antonenkova, N., Rogov, J.I., Prokofieva, D., Bermisheva, M., Khusnutdinova, E., Asperen, C.J. van, Tollenaar, R.A.E.M., Hooning, M.J., Devilee, P., Margolin, S., Lindblom, A., Milne, R.L., Arias, J.I., Zamora, M.P., Benitez, J., Severi, G., Baglietto, L., Giles, G.G., Spurdle, A.B., Beesley, J., Chen, X.Q., Holland, H., Healey, S., Wang-Gohrke, S., Chang-Claude, J., Mannermaa, A., Kosma, V.M., Kauppinen, J., Kataja, V., Agnarsson, B.A., Caligo, M.A., Godwin, A.K., Nevanlinna, H., Heikkinen, T., Fredericksen, Z., Lindor, N., Nathanson, K.L., Domchek, S.M., Loman, N., Karlsson, P., Askmalm, M.S., Melin, B., Wachenfeldt, A. von, Hogervorst, F.B.L., Verheus, M., Rookus, M.A., Seynaeve, C., Oldenburg, R.A., Ligtenberg, M.J., Ausems, M.G.E.M., Aalfs, C.M., Gille, H.J.P., Wijnen, J.T., Garcia, E.B.G., Peock, S., Cook, M., Oliver, C.T., Frost, D., Luccarini, C., Pichert, G., Davidson, R., Chu, C., Eccles, D., Ong, K.R., Cook, J., Douglas, F., Hodgson, S., Evans, D.G., Eeles, R., Gold, B., Pharoah, P.D.P., Offit, K., Chenevix-Trench, G., Easton, D.F., GENICA Network, kConFab, AOCS Study Grp, SWE-BRCA, HEBON, EMBRACE, BCAC-CIMBA, Medical Oncology, Clinical Genetics, Genetica & Celbiologie, RS: GROW - School for Oncology and Reproduction, Human genetics, CCA - Oncogenesis, Department of Obstetrics and Gynecology, Women's Health Research Program, Human Genetics, Cancer Center Amsterdam, and Amsterdam Reproduction & Development (AR&D)
Subjects: Oncology, Genetics and Molecular Biology (all), Medicin och hälsovetenskap, Alleles, BRCA1 Protein, BRCA2 Protein, Breast Neoplasms, Chromosomes, Human, Pair 6, Confidence Intervals, Female, Genetic Association Studies, Heterozygote, Humans, Middle Aged, Odds Ratio, Polymorphism, Single Nucleotide, Proportional Hazards Models, Receptors, Estrogen, Risk Factors, Genetic Predisposition to Disease, Medicine (all), Biochemistry, Genetics and Molecular Biology (all), Agricultural and Biological Sciences (all), Epidemiology, Genome-wide association study, VARIANTS, Bioinformatics, Medical and Health Sciences, Biochemistry, 0302 clinical medicine, Breast Tumors, Genotype, Receptors, skin and connective tissue diseases, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), 0303 health sciences, education.field_of_study, variants, Multidisciplinary, Cancer Risk Factors, Obstetrics and Gynecology, Single Nucleotide, 3. Good health, Genetic Epidemiology, 030220 oncology & carcinogenesis, alleles, Medicine, Pair 6, Cancer Epidemiology, Research Article, Human, medicine.medical_specialty, SUSCEPTIBILITY LOCI, Science, Genetic Causes of Cancer, Population, Hereditary cancer and cancer-related syndromes Genetics and epigenetic pathways of disease [ONCOL 1], education, Single-nucleotide polymorphism, Chromosomes, 03 medical and health sciences, Breast cancer, SDG 3 - Good Health and Well-being, Translational research [ONCOL 3], Internal medicine, Breast Cancer, Genetics, Cancer Genetics, Genome-Wide Association Studies, medicine, GENOME-WIDE ASSOCIATION, Polymorphism, Genetics and epigenetic pathways of disease Translational research [NCMLS 6], gene, Biology, 030304 developmental biology, Cancer och onkologi, Population Biology, Hereditary cancer and cancer-related syndromes [ONCOL 1], Proportional hazards model, business.industry, Cancers and Neoplasms, Odds ratio, medicine.disease, GENE, Estrogen, susceptibility loci, Minor allele frequency, Cancer and Oncology, FGFR2, genome-wide association, 3111 Biomedicine, business
Abstract: Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the present study, we performed a large replication analysis of rs2180341 using data from 31,428 invasive breast cancer cases and 34,700 controls collected from 25 studies in the Breast Cancer Association Consortium (BCAC). In addition, we evaluated whether rs2180341 modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers from 11 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Based on the BCAC data from women of European ancestry, we found evidence for a weak association with breast cancer risk for rs2180341 (per-allele odds ratio (OR) = 1.03, 95% CI 1.00-1.06, p = 0.023). There was evidence for heterogeneity in the ORs among studies (I-2 = 49.3%; p = less than0.004). In CIMBA, we observed an inverse association with the minor allele of rs2180341 and breast cancer risk in BRCA1 mutation carriers (per-allele OR = 0.89, 95% CI 0.80-1.00, p = 0.048), indicating a potential protective effect of this allele. These data suggest that that 6q22.33 confers a weak effect on breast cancer risk.
Published: 2012

154. Assessing interactions between the associations\ud of common genetic susceptibility variants,\ud reproductive history and body mass index with\ud breast cancer risk in the breast cancer association\ud consortium: a combined case-control study

Author: Milne, R.L., Gaudet, M.M., Spurdle, A.B., Fasching, P.A., Couch, F.J., Benitez, J., Perez, J.I.A., Zamora, M.P., Malats, N., Silva, I.D., Gibson, L.J., Fletcher, O., Johnson, N., Anton-Culver, H., Ziogas, A., Figueroa, J., Brinton, L., Sherman, M.E., Lissowska, J., Hopper, J.L., Dite, G.S., Apicella, C., Southey, M.C., Sigurdson, A.J., Linet, M.S., Schonfeld, S.J., Freedman, D.M., Mannermaa, A., Kosma, V.M., Kataja, V., Auvinen, P., Andrulis, I.L., Glendon, G., Knight, J.A., Weerasooriya, N., Cox, A., Reed, M.W.R., Cross, S.S., Dunning, A.M., Ahmed, S., Shah, M., Brauch, H., Ko, Y.D., Bruning, T., Lambrechts, D., Reumers, J., Smeets, A., Wang-Gohrke, S., Hall, P., Czene, K., Liu, J.J., Irwanto, A.K., Chenevix-Trench, G., Holland, H., Giles, G.G., Baglietto, L., Severi, G., Bojensen, S.E., Nordestgaard, B.G., Flyger, H., John, E.M., West, D.W., Whittemore, A.S., Vachon, C., Olson, J.E., Fredericksen, Z., Kosel, M., Hein, R., Vrieling, A., Flesch-Janys, D., Heinz, J., Beckmann, M.W., Heusinger, K., Ekici, A.B., Haeberle, L., Humphreys, M.K., Morrison, J., Easton, D.F., Pharoah, P.D., Garcia-Closas, M., Goode, E.L., Chang-Claude, J., Network, GENICA, Investigators, KConFab, and Group, AOCS
Abstract: Introduction: Several common breast cancer genetic susceptibility variants have recently been identified. We\ud aimed to determine how these variants combine with a subset of other known risk factors to influence breast\ud cancer risk in white women of European ancestry using case-control studies participating in the Breast Cancer\ud Association Consortium.\ud Methods: We evaluated two-way interactions between each of age at menarche, ever having had a live birth,\ud number of live births, age at first birth and body mass index (BMI) and each of 12 single nucleotide\ud polymorphisms (SNPs) (10q26-rs2981582 (FGFR2), 8q24-rs13281615, 11p15-rs3817198 (LSP1), 5q11-rs889312\ud (MAP3K1), 16q12-rs3803662 (TOX3), 2q35-rs13387042, 5p12-rs10941679 (MRPS30), 17q23-rs6504950 (COX11), 3p24-rs4973768 (SLC4A7), CASP8-rs17468277, TGFB1-rs1982073 and ESR1-rs3020314). Interactions were tested for by\ud fitting logistic regression models including per-allele and linear trend main effects for SNPs and risk factors,\ud respectively, and single-parameter interaction terms for linear departure from independent multiplicative effects.\ud Results: These analyses were applied to data for up to 26,349 invasive breast cancer cases and up to 32,208\ud controls from 21 case-control studies. No statistical evidence of interaction was observed beyond that expected by\ud chance. Analyses were repeated using data from 11 population-based studies, and results were very similar.\ud Conclusions: The relative risks for breast cancer associated with the common susceptibility variants identified to\ud date do not appear to vary across women with different reproductive histories or body mass index (BMI). The\ud assumption of multiplicative combined effects for these established genetic and other risk factors in risk prediction\ud models appears justified.
Published: 2010

155. Elevated lipoprotein(a) levels and increased risk of heart failure

Author: Nordestgaard, B.G., primary and Kamstrup, P.R., additional
Published: 2015
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156. Milk intake is not causally associated with risk of ischemic heart disease or myocardial infarction – A mendelian randomization study in 98,529 Danish individuals

Author: Bergholdt, H.K.M., primary, Nordestgaard, B.G., additional, Varbo, A., additional, and Ellervik, C., additional
Published: 2015
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157. Elevated plasma YKL-40, lipids and lipoproteins, and ischemic vascular disease in the general population

Author: Kjaergaard, A.D., primary, Johansen, J.S., additional, Bojesen, S.E., additional, and Nordestgaard, B.G., additional
Published: 2015
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158. Extreme nonfasting remnant cholesterol versus extreme low-density lipoprotein cholesterol as contributors of cardiovascular disease and all-cause mortality in 90,000 individuals from the general population

Author: Nordestgaard, B.G., primary, Freiberg, J.J., additional, and Varbo, A., additional
Published: 2015
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159. Association Between a Germline OCA2 Polymorphism at Chromosome 15q13.1 and Estrogen Receptor-Negative Breast Cancer Survival

Author: Azzato, E.M., Tyrer, J., Fasching, P.A., Beckmann, M.W., Ekici, A.B., Schulz-Wendtland, R., Bojesen, S.E., Nordestgaard, B.G., Flyger, H., Milne, R.L., Arias, J.I., Menendez, P., Benitez, J., Chang-Claude, J., Hein, R., Wang-Gohrke, S., Nevanlinna, H., Heikkinen, T., Aittomaki, K., Blomqvist, C., Margolin, S., Mannermaa, A., Kosma, V.M., Kataja, V., Beesley, J., Chen, X.Q., Chenevix-Trench, G., Couch, F.J., Olson, J.E., Fredericksen, Z.S., Wang, X.S., Giles, G.G., Severi, G., Baglietto, L., Southey, M.C., Devilee, P., Tollenaar, R.A.E.M., Seynaeve, C., Garcia-Closas, M., Lissowska, J., Sherman, M.E., Bolton, K.L., Hall, P., Czene, K., Cox, A., Brock, I.W., Elliott, G.C., Reed, M.W.R., Greenberg, D., Anton-Culver, H., Ziogas, A., Humphreys, M., Easton, D.F., Caporaso, N.E., Pharoah, P.D.P., and Kathleen Cuningham Fdn Consortium
Subjects: Adult, Chromosomes, Human, Pair 15, Genotype, Oncology and Carcinogenesis, Membrane Transport Proteins, Breast Neoplasms, Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, Middle Aged, Risk Assessment, Survival Analysis, Polymorphism, Single Nucleotide, single-nucleotide polymorphisms genome-wide association genetic-variation ovarian-cancer tumor characteristics common polymorphisms brca1 mutations repair genes risk population, Receptors, Estrogen, Risk Factors, Research Design, Biomarkers, Tumor, Humans, Female, Oncology & Carcinogenesis, Germ-Line Mutation, Alleles, Proportional Hazards Models, Aged
Abstract: Traditional prognostic factors for survival and treatment response of patients with breast cancer do not fully account for observed survival variation. We used available genotype data from a previously conducted two-stage, breast cancer susceptibility genome-wide association study (ie, Studies of Epidemiology and Risk factors in Cancer Heredity [SEARCH]) to investigate associations between variation in germline DNA and overall survival. We evaluated possible associations between overall survival after a breast cancer diagnosis and 10 621 germline single-nucleotide polymorphisms (SNPs) from up to 3761 patients with invasive breast cancer (including 647 deaths and 26 978 person-years at risk) that were genotyped previously in the SEARCH study with high-density oligonucleotide microarrays (ie, hypothesis-generating set). Associations with all-cause mortality were assessed for each SNP by use of Cox regression analysis, generating a per rare allele hazard ratio (HR). To validate putative associations, we used patient genotype information that had been obtained with 5' nuclease assay or mass spectrometry and overall survival information for up to 14 096 patients with invasive breast cancer (including 2303 deaths and 70 019 person-years at risk) from 15 international case-control studies (ie, validation set). Fixed-effects meta-analysis was used to generate an overall effect estimate in the validation dataset and in combined SEARCH and validation datasets. All statistical tests were two-sided. In the hypothesis-generating dataset, SNP rs4778137 (C > G) of the OCA2 gene at 15q13.1 was statistically significantly associated with overall survival among patients with estrogen receptor-negative tumors, with the rare G allele being associated with increased overall survival (HR of death per rare allele carried = 0.56, 95% confidence interval [CI] = 0.41 to 0.75, P = 9.2 x 10(-5)). This association was also observed in the validation dataset (HR of death per rare allele carried = 0.88, 95% CI = 0.78 to 0.99, P = .03) and in the combined dataset (HR of death per rare allele carried = 0.82, 95% CI = 0.73 to 0.92, P = 5 x 10(-4)). The rare G allele of the OCA2 polymorphism, rs4778137, may be associated with improved overall survival among patients with estrogen receptor-negative breast cancer.
Published: 2010

160. Statistical methods for the time-to-event analysis of individual participant data from multiple epidemiological studies

Author: Thompson, S. Kaptoge, S. White, I. Wood, A. Perry, P. Danesh, J. The Emerging Risk Factors Collaboration Thompson, S.G. Kaptoge, S. White, I.R. Wood, A.M. Perry, P.L. Tipping, R.W. Ford, C.E. Simpson, L.M. Walldius, G. Jungner, I. Chambless, L.E. Panagiotakos, D.B. Pitsavos, C. Chrysohoou, C. Stefanadis, C. Knuiman, M. Goldbourt, U. Benderly, M. Tanne, D. Whincup, P.H. Wannamethee, S.G. Morris, R.W. Willeit, J. Kiechl, S. Santer, P. Mayr, A. Lawlor, D.A. Yarnell, J.W.G. Gallacher, J. Casiglia, E. Tikhonoff, V. Nietert, P.J. Sutherland, S.E. Bachman, D.L. Keil, J.E. Cushman, M. Tracy, R.P. Tybjærg-Hansen, A. Nordestgaard, B.G. Benn, M. Frikke- Schmidt, R. Giampaoli, S. Palmieri, L. Panico, S. Vanuzzo, D. Gómez de la Cámara, A. Gómez- Gerique, J.A. Simons, L. McCallum, J. Friedlander, Y. Fowkes, F.G.R. Lee, A.J. Taylor, J. Guralnik, J.M. Wallace, R. Guralnik, J. Blazer, D.G. Guralnik, J.M. Guralnik, J.M. Khaw, K.-T. Brenner, H. Raum, E. Müller, H. Rothenbacher, D. Jansson, J.H. Wennberg, P. Nissinen, A. Donfrancesco, C. Salomaa, V. Harald, K. Jousilahti, P. Vartiainen, E. Woodward, M. D'Agostino, R.B. Vasan, R.S. Pencina, M.J. Bladbjerg, E.M. Jørgensen, T. Jespersen, J. Møller, L. Dankner, R. Chetrit, A. Lubin, F. Rosengren, A. Lappas, G. Björkelund, C. Lissner, L. Bengtsson, C. Cremer, P. Nagel, D. Tilvis, R.S. Strandberg, T.E. Kiyohara, Y. Arima, H. Doi, Y. Ninomiya, T. Rodriguez, B. Dekker, J.M. Nijpels, G. Stehouwer, C.D.A. Rimm, E. Pai, J.K. Sato, S. Kitamura, A. Iso, H. Goldbourt, U. Noda, H. Harald, K. Jousilahti, P. Vartiainen, E. Salonen, J.T. Tuomainen, T.-P. Deeg, D.J.H. Poppelaars, J.L. Meade, T.W. Cooper, J.A. Hedblad, B. Berglund, G. Engstrom, G. Verschuren, W.M.M. Blokstra, A. Cushman, M. Shea, S. Döring, A. Koenig, W. Meisinger, C. Mraz, W. Bas Bueno-de-Mesquita, H. Kuller, L.H. Grandits, G. Selmer, R. Tverdal, A. Nystad, W. Gillum, R. Mussolino, M. Rimm, E. Manson, J.E. Pai, J.K. Meade, T.W. Cooper, J.A. Cooper, J.A. Knottenbelt, C. Bauer, K.A. Naito, Y. Holme, I. Hankinson, S. Tverdal, A. Nystad, W. Nakagawa, H. Miura, K. Ducimetiere, P. Jouven, X. Crespo, C.J. Garcia Palmieri, M.R. Amouyel, P. Arveiler, D. Evans, A. Ferrieres, J. Schulte, H. Assmann, G. Shepherd, J. Packard, C.J. Sattar, N. Ford, I. Cantin, B. Després, J.-P. Dagenais, G.R. Barrett-Connor, E. Wingard, D.L. Bettencourt, R. Gudnason, V. Aspelund, T. Sigurdsson, G. Thorsson, B. Trevisan, M. Witteman, J. Kardys, I. Breteler, M. Hofman, A. Tunstall-Pedoe, H. Tavendale, R. Lowe, G.D.O. Ben-Shlomo, Y. Howard, B.V. Zhang, Y. Umans, J. Onat, A. Davey-Smith, G. Wilsgaard, T. Ingelsson, E. Lind, L. Giedraitis, V. Lannfelt, L. Gaziano, J.M. Ridker, P. Gaziano, J.M. Ridker, P. Ulmer, H. Diem, G. Concin, H. Tosetto, A. Rodeghiero, F. Wassertheil-Smoller, S. Manson, J.E. Marmot, M. Clarke, R. Collins, R. Brunner, E. Shipley, M. Ridker, P. Buring, J. Shepherd, J. Cobbe, S.M. Robertson, M. He, Y. Marín Ibañez, A. Feskens, E.J.M. Kromhout, D. Collins, R. Di Angelantonio, E. Erqou, S. Kaptoge, S. Lewington, S. Orfei, L. Pennells, L. Perry, P.L. Ray, K.K. Sarwar, N. Alexander, M. Thompson, A. Thompson, S.G. Walker, M. Watson, S. Wensley, F. White, I.R. Wood, A.M.
Abstract: Background Meta-analysis of individual participant time-to-event data from multiple prospective epidemiological studies enables detailed investigation of exposure-risk relationships, but involves a number of analytical challenges. Methods This article describes statistical approaches adopted in the Emerging Risk Factors Collaboration, in which primary data from more than 1 million participants in more than 100 prospective studies have been collated to enable detailed analyses of various risk markers in relation to incident cardiovascular disease outcomes. Results Analyses have been principally based on Cox proportional hazards regression models stratified by sex, undertaken in each study separately. Estimates of exposure-risk relationships, initially unadjusted and then adjusted for several confounders, have been combined over studies using meta-analysis. Methods for assessing the shape of exposure-risk associations and the proportional hazards assumption have been developed. Estimates of interactions have also been combined using meta-analysis, keeping separate within-and between-study information. Regression dilution bias caused by measurement error and within-person variation in exposures and confounders has been addressed through the analysis of repeat measurements to estimate corrected regression coefficients. These methods are exemplified by analysis of plasma fibrinogen and risk of coronary heart disease, and Stata code is made available. Conclusion Increasing numbers of meta-analyses of individual participant data from observational data are being conducted to enhance the statistical power and detail of epidemiological studies. The statistical methods developed here can be used to address the needs of such analyses. © The Author 2010; all rights reserved.
Published: 2010

161. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society

Author: Cuchel, M., Bruckert, E., Ginsberg, H.N., Raal, F.J., Santos, R.D., Hegele, R.A., Kuivenhoven, J.A., Nordestgaard, B.G., Descamps, O.S., Steinhagen-Thiessen, E., Tybjaerg-Hansen, A., Watts, G.F., Averna, M., Boileau, C., Boren, J., Catapano, A.L., Defesche, J.C., Hovingh, G.K., Humphries, S.E., Kovanen, P.T., Masana, L., Pajukanta, P., Parhofer, K.G., Ray, K.K., Stalenhoef, A.F.H., Stroes, E., Taskinen, M.R., Wiegman, A., Wiklund, O., Chapman, M.J., et al., Cuchel, M., Bruckert, E., Ginsberg, H.N., Raal, F.J., Santos, R.D., Hegele, R.A., Kuivenhoven, J.A., Nordestgaard, B.G., Descamps, O.S., Steinhagen-Thiessen, E., Tybjaerg-Hansen, A., Watts, G.F., Averna, M., Boileau, C., Boren, J., Catapano, A.L., Defesche, J.C., Hovingh, G.K., Humphries, S.E., Kovanen, P.T., Masana, L., Pajukanta, P., Parhofer, K.G., Ray, K.K., Stalenhoef, A.F.H., Stroes, E., Taskinen, M.R., Wiegman, A., Wiklund, O., Chapman, M.J., and et al.
Abstract: Item does not contain fulltext, AIMS: Homozygous familial hypercholesterolaemia (HoFH) is a rare life-threatening condition characterized by markedly elevated circulating levels of low-density lipoprotein cholesterol (LDL-C) and accelerated, premature atherosclerotic cardiovascular disease (ACVD). Given recent insights into the heterogeneity of genetic defects and clinical phenotype of HoFH, and the availability of new therapeutic options, this Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society (EAS) critically reviewed available data with the aim of providing clinical guidance for the recognition and management of HoFH. METHODS AND RESULTS: Early diagnosis of HoFH and prompt initiation of diet and lipid-lowering therapy are critical. Genetic testing may provide a definitive diagnosis, but if unavailable, markedly elevated LDL-C levels together with cutaneous or tendon xanthomas before 10 years, or untreated elevated LDL-C levels consistent with heterozygous FH in both parents, are suggestive of HoFH. We recommend that patients with suspected HoFH are promptly referred to specialist centres for a comprehensive ACVD evaluation and clinical management. Lifestyle intervention and maximal statin therapy are the mainstays of treatment, ideally started in the first year of life or at an initial diagnosis, often with ezetimibe and other lipid-modifying therapy. As patients rarely achieve LDL-C targets, adjunctive lipoprotein apheresis is recommended where available, preferably started by age 5 and no later than 8 years. The number of therapeutic approaches has increased following approval of lomitapide and mipomersen for HoFH. Given the severity of ACVD, we recommend regular follow-up, including Doppler echocardiographic evaluation of the heart and aorta annually, stress testing and, if available, computed tomography coronary angiography every 5 years, or less if deemed necessary. CONCLUSION: This EAS Consensus Panel highlights the need for early identification of H
Published: 2014

162. Alcohol Consumption and Survival after a Breast Cancer Diagnosis: A Literature-Based Meta-analysis and Collaborative Analysis of Data for 29,239 Cases

Author: Ali, A.M., Schmidt, M.K., Bolla, M.K., Wang, Q., Gago-Dominguez, M., Castelao, J.E., Carracedo, A., Garzon, V.M., Bojesen, S.E., Nordestgaard, B.G., Flyger, H., Chang-Claude, J., Vrieling, A., Rudolph, A., Seibold, P., Nevanlinna, H., Muranen, T.A., Aaltonen, K., Blomqvist, C., Matsuo, K., Ito, H., Iwata, H., Horio, A., John, E.M., Sherman, M., Lissowska, J., Figueroa, J., Garcia-Closas, M., Anton-Culver, H., Shah, M., Hopper, J.L., Trichopoulou, A., Bueno-de-Mesquita, B., Krogh, V., Weiderpass, E., Andersson, A., Clavel-Chapelon, F., Dossus, L., Fagherazzi, G., Peeters, P.H.M., Olsen, A., Wishart, G.C., Easton, D.F., Borgquist, S., Overvad, K., Barricarte, A., Gonzalez, C.A., Sanchez, M.J., Amiano, P., Riboli, E., Key, T., Pharoah, P.D., Ali, A.M., Schmidt, M.K., Bolla, M.K., Wang, Q., Gago-Dominguez, M., Castelao, J.E., Carracedo, A., Garzon, V.M., Bojesen, S.E., Nordestgaard, B.G., Flyger, H., Chang-Claude, J., Vrieling, A., Rudolph, A., Seibold, P., Nevanlinna, H., Muranen, T.A., Aaltonen, K., Blomqvist, C., Matsuo, K., Ito, H., Iwata, H., Horio, A., John, E.M., Sherman, M., Lissowska, J., Figueroa, J., Garcia-Closas, M., Anton-Culver, H., Shah, M., Hopper, J.L., Trichopoulou, A., Bueno-de-Mesquita, B., Krogh, V., Weiderpass, E., Andersson, A., Clavel-Chapelon, F., Dossus, L., Fagherazzi, G., Peeters, P.H.M., Olsen, A., Wishart, G.C., Easton, D.F., Borgquist, S., Overvad, K., Barricarte, A., Gonzalez, C.A., Sanchez, M.J., Amiano, P., Riboli, E., Key, T., and Pharoah, P.D.
Abstract: Item does not contain fulltext, BACKGROUND: Evidence for an association of alcohol consumption with prognosis after a diagnosis of breast cancer has been inconsistent. We have reviewed and summarized the published evidence and evaluated the association using individual patient data from multiple case cohorts. METHODS: A MEDLINE search to identify studies published up to January 2013 was performed. We combined published estimates of survival time for "moderate drinkers" versus nondrinkers. An analysis of individual participant data using Cox regression was carried out using data from 11 case cohorts. RESULTS: We identified 11 published studies suitable for inclusion in the meta-analysis. Moderate postdiagnosis alcohol consumption was not associated with overall survival [HR, 0.95; 95% confidence interval (CI), 0.85-1.05], but there was some evidence of better survival associated with prediagnosis consumption (HR, 0.80; 95% CI, 0.73-0.88). Individual data on alcohol consumption for 29,239 cases with 4,839 deaths were available from the 11 case cohorts, all of which had data on estrogen receptor (ER) status. For women with ER-positive disease, there was little evidence that pre- or postdiagnosis alcohol consumption is associated with breast cancer-specific mortality, with some evidence of a negative association with all-cause mortality. On the basis of a single study, moderate postdiagnosis alcohol intake was associated with a small reduction in breast cancer-specific mortality for women with ER-negative disease. There was no association with prediagnosis intake for women with ER-negative disease. CONCLUSION: There was little evidence that pre- or post-diagnosis alcohol consumption is associated with breast cancer-specific mortality for women with ER-positive disease. There was weak evidence that moderate post-diagnosis alcohol intake is associated with a small reduction in breast cancer-specific mortality in ER-negative disease. IMPACT: Considering the totality of the evidence, moderate postdiagnosi
Published: 2014

163. Identification of new genetic susceptibility loci for breast cancer through consideration of gene-environment interactions

Author: Schoeps, A., Rudolph, A., Seibold, P., Dunning, A.M., Milne, R.L., Bojesen, S.E., Swerdlow, A., Andrulis, I., Brenner, H., Behrens, S., Orr, N., Jones, M., Ashworth, A., Li, J., Cramp, H., Connley, D., Czene, K., Darabi, H., Chanock, S.J., Lissowska, J., Figueroa, J.D., Knight, J., Glendon, G., Mulligan, A.M., Dumont, M., Severi, G., Baglietto, L., Olson, J., Vachon, C., Purrington, K., Moisse, M., Neven, P., Wildiers, H., Spurdle, A., Kosma, V.M., Kataja, V., Hartikainen, J.M., Hamann, U., Ko, Y.D., Dieffenbach, A.K., Arndt, V., Stegmaier, C., Malats, N., Perez, J.I., Benitez, J., Flyger, H., Nordestgaard, B.G., Truong, T., Cordina-Duverger, E., Menegaux, F., dos Santos Silva, I., Fletcher, O., Johnson, N., Haberle, L., Beckmann, M.W., Ekici, A.B., Braaf, L., Atsma, F., Broek, A.J. van den, Makalic, E., Schmidt, D.F., Southey, M.C., Cox, A, Simard, J., Giles, G.G., Lambrechts, D., Mannermaa, A., Brauch, H., Guenel, P., Peto, J., Fasching, P.A., Hopper, J., Flesch-Janys, D., Couch, F., Chenevix-Trench, G., Pharoah, P.D., Garcia-Closas, M., Schmidt, M.K., Hall, P., Easton, D.F., Chang-Claude, J., Schoeps, A., Rudolph, A., Seibold, P., Dunning, A.M., Milne, R.L., Bojesen, S.E., Swerdlow, A., Andrulis, I., Brenner, H., Behrens, S., Orr, N., Jones, M., Ashworth, A., Li, J., Cramp, H., Connley, D., Czene, K., Darabi, H., Chanock, S.J., Lissowska, J., Figueroa, J.D., Knight, J., Glendon, G., Mulligan, A.M., Dumont, M., Severi, G., Baglietto, L., Olson, J., Vachon, C., Purrington, K., Moisse, M., Neven, P., Wildiers, H., Spurdle, A., Kosma, V.M., Kataja, V., Hartikainen, J.M., Hamann, U., Ko, Y.D., Dieffenbach, A.K., Arndt, V., Stegmaier, C., Malats, N., Perez, J.I., Benitez, J., Flyger, H., Nordestgaard, B.G., Truong, T., Cordina-Duverger, E., Menegaux, F., dos Santos Silva, I., Fletcher, O., Johnson, N., Haberle, L., Beckmann, M.W., Ekici, A.B., Braaf, L., Atsma, F., Broek, A.J. van den, Makalic, E., Schmidt, D.F., Southey, M.C., Cox, A, Simard, J., Giles, G.G., Lambrechts, D., Mannermaa, A., Brauch, H., Guenel, P., Peto, J., Fasching, P.A., Hopper, J., Flesch-Janys, D., Couch, F., Chenevix-Trench, G., Pharoah, P.D., Garcia-Closas, M., Schmidt, M.K., Hall, P., Easton, D.F., and Chang-Claude, J.
Abstract: Item does not contain fulltext, Genes that alter disease risk only in combination with certain environmental exposures may not be detected in genetic association analysis. By using methods accounting for gene-environment (G x E) interaction, we aimed to identify novel genetic loci associated with breast cancer risk. Up to 34,475 cases and 34,786 controls of European ancestry from up to 23 studies in the Breast Cancer Association Consortium were included. Overall, 71,527 single nucleotide polymorphisms (SNPs), enriched for association with breast cancer, were tested for interaction with 10 environmental risk factors using three recently proposed hybrid methods and a joint test of association and interaction. Analyses were adjusted for age, study, population stratification, and confounding factors as applicable. Three SNPs in two independent loci showed statistically significant association: SNPs rs10483028 and rs2242714 in perfect linkage disequilibrium on chromosome 21 and rs12197388 in ARID1B on chromosome 6. While rs12197388 was identified using the joint test with parity and with age at menarche (P-values = 3 x 10(-07)), the variants on chromosome 21 q22.12, which showed interaction with adult body mass index (BMI) in 8,891 postmenopausal women, were identified by all methods applied. SNP rs10483028 was associated with breast cancer in women with a BMI below 25 kg/m(2) (OR = 1.26, 95% CI 1.15-1.38) but not in women with a BMI of 30 kg/m(2) or higher (OR = 0.89, 95% CI 0.72-1.11, P for interaction = 3.2 x 10(-05)). Our findings confirm comparable power of the recent methods for detecting G x E interaction and the utility of using G x E interaction analyses to identify new susceptibility loci.
Published: 2014

164. Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study

Author: Johnson, N. (Nichola), Dudbridge, F. (Frank), Orr, N. (Nick), Gibson, L.J. (Lorna), Jones, M. (Michael), Schoemaker, M. (Minouk), Folkerd, E.J. (Elizabeth J.), Haynes, B.P. (Ben P.), Hopper, J.L. (John), Southey, M.C. (Melissa), Dite, G.S. (Gillian S.), Apicella, C. (Carmel), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Atsma, F. (Femke), Muir, K.R. (K.), Lophatananon, A. (Artitaya), Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Ekici, A.B. (Arif), Renner, S.P. (S.), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Burwinkel, B. (Barbara), Marme, F. (Frederik), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Guénel, P. (Pascal), Truong, T. (Thérèse), Cordina, E. (Emilie), Menegaux, F. (Florence), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Milne, R.L. (Roger), Zamora, M.P. (Pilar), Arias Pérez, J.I. (José Ignacio), Benítez, J. (Javier), Bernstein, L. (Leslie), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Clarke Dur, C. (Christina), Brenner, H. (Hermann), Müller, H. (Heiko), Arndt, V. (Volker), Dieffenbach, A.K. (Aida Karina), Meindl, A. (Alfons), Heil, J. (Joerg), Bartram, C.R. (Claus), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Justenhoven, C. (Christina), Ko, Y-D. (Yon-Dschun), Nevanlinna, H. (Heli), Muranen, T.A. (Taru A.), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Matsuo, K. (Keitaro), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia N.), Lindblom, A. (Annika), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Chenevix-Trench, G. (Georgia), Beesley, J. (Jonathan), Wu, A.H. (Anna), Van Den Berg, D. (David), Tseng, C.-C. (Chiu-Chen), Lambrechts, D. (Diether), Smeets, D. (Dominiek), Neven, P. (Patrick), Wildiers, H. (Hans), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Nickels, S. (Stefan), Flesch-Janys, D. (Dieter), Radice, P. (Paolo), Peterlongo, P. (Paolo), Bonnani, B. (Bernardo), Pensotti, V. (Valeria), Couch, F.J. (Fergus J.), Olson, J.E. (Janet), Wang, X. (Xianshu), Fredericksen, Z. (Zachary), Pankratz, V.S. (Shane), Giles, G.G. (Graham G.), Severi, G. (Gianluca), Baglietto, L. (Laura), Haiman, C.A. (Christopher), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Soucy, P. (Penny), Teo, S.-H. (Soo-Hwang), Yip, C.H. (Cheng Har), Phuah, S.-Y. (Sze-Yee), Cornes, B.K. (Belinda K.), Kristensen, V.N. (Vessela N.), Grenaker Alnæs, G. (Grethe), Borresen-Dale, A.-L. (Anne-Lise), Zheng, W. (Wei), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.-M. (Anna-Marie), Devillee, P. (Peter), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Sherman, M.E. (Mark), Hall, P. (Per), Schoof, N. (Nils), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Oldenburg, R.A. (Rogier), Tilanus-Linthorst, M.M.A. (Madeleine), Liu, J. (Jianjun), Cox, A. (Angela), Brock, I.W. (Ian), Reed, M.W.R. (Malcolm), Cross, S.S. (Simon), Blot, W.J. (William), Signorello, L.B. (Lisa B.), Pharoah, P.D.P. (Paul), Dunning, A.M. (Alison), Shah, M. (Mitul), Kang, D. (Daehee), Noh, D.-Y. (Dong-Young), Park, S.K. (Sue K.), Choi, J.-Y. (Ji-Yeob), Hartman, M. (Mikael), Miao, X., Lim, W.Y. (Wei Yen), Tang, A. (Anthony), Hamann, U. (Ute), Försti, A. (Asta), Rud̈iger, T. (Thomas), Ulmer, H.U. (Hans), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J. (James), Slager, S. (Susan), Toland, A.E. (Amanda E.), Vachon, C. (Celine), Yannoukakos, D. (Drakoulis), Shen, C.-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Huang, C.-S. (Chiun-Sheng), Hou, M.-F. (Ming-Feng), González-Neira, A. (Anna), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Luccarini, C. (Craig), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Bolla, M.K. (Manjeet K.), Wang, J. (Jinxia), Easton, D.F. (Douglas), García-Closas, M. (Montserrat), Dowsett, M. (Mitch), Ashworth, A. (Alan), Swerdlow, A.J. (Anthony ), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Fletcher, O. (Olivia), Johnson, N. (Nichola), Dudbridge, F. (Frank), Orr, N. (Nick), Gibson, L.J. (Lorna), Jones, M. (Michael), Schoemaker, M. (Minouk), Folkerd, E.J. (Elizabeth J.), Haynes, B.P. (Ben P.), Hopper, J.L. (John), Southey, M.C. (Melissa), Dite, G.S. (Gillian S.), Apicella, C. (Carmel), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Atsma, F. (Femke), Muir, K.R. (K.), Lophatananon, A. (Artitaya), Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Ekici, A.B. (Arif), Renner, S.P. (S.), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Burwinkel, B. (Barbara), Marme, F. (Frederik), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Guénel, P. (Pascal), Truong, T. (Thérèse), Cordina, E. (Emilie), Menegaux, F. (Florence), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Milne, R.L. (Roger), Zamora, M.P. (Pilar), Arias Pérez, J.I. (José Ignacio), Benítez, J. (Javier), Bernstein, L. (Leslie), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Clarke Dur, C. (Christina), Brenner, H. (Hermann), Müller, H. (Heiko), Arndt, V. (Volker), Dieffenbach, A.K. (Aida Karina), Meindl, A. (Alfons), Heil, J. (Joerg), Bartram, C.R. (Claus), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Justenhoven, C. (Christina), Ko, Y-D. (Yon-Dschun), Nevanlinna, H. (Heli), Muranen, T.A. (Taru A.), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Matsuo, K. (Keitaro), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia N.), Lindblom, A. (Annika), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Chenevix-Trench, G. (Georgia), Beesley, J. (Jonathan), Wu, A.H. (Anna), Van Den Berg, D. (David), Tseng, C.-C. (Chiu-Chen), Lambrechts, D. (Diether), Smeets, D. (Dominiek), Neven, P. (Patrick), Wildiers, H. (Hans), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Nickels, S. (Stefan), Flesch-Janys, D. (Dieter), Radice, P. (Paolo), Peterlongo, P. (Paolo), Bonnani, B. (Bernardo), Pensotti, V. (Valeria), Couch, F.J. (Fergus J.), Olson, J.E. (Janet), Wang, X. (Xianshu), Fredericksen, Z. (Zachary), Pankratz, V.S. (Shane), Giles, G.G. (Graham G.), Severi, G. (Gianluca), Baglietto, L. (Laura), Haiman, C.A. (Christopher), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Soucy, P. (Penny), Teo, S.-H. (Soo-Hwang), Yip, C.H. (Cheng Har), Phuah, S.-Y. (Sze-Yee), Cornes, B.K. (Belinda K.), Kristensen, V.N. (Vessela N.), Grenaker Alnæs, G. (Grethe), Borresen-Dale, A.-L. (Anne-Lise), Zheng, W. (Wei), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.-M. (Anna-Marie), Devillee, P. (Peter), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Sherman, M.E. (Mark), Hall, P. (Per), Schoof, N. (Nils), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Oldenburg, R.A. (Rogier), Tilanus-Linthorst, M.M.A. (Madeleine), Liu, J. (Jianjun), Cox, A. (Angela), Brock, I.W. (Ian), Reed, M.W.R. (Malcolm), Cross, S.S. (Simon), Blot, W.J. (William), Signorello, L.B. (Lisa B.), Pharoah, P.D.P. (Paul), Dunning, A.M. (Alison), Shah, M. (Mitul), Kang, D. (Daehee), Noh, D.-Y. (Dong-Young), Park, S.K. (Sue K.), Choi, J.-Y. (Ji-Yeob), Hartman, M. (Mikael), Miao, X., Lim, W.Y. (Wei Yen), Tang, A. (Anthony), Hamann, U. (Ute), Försti, A. (Asta), Rud̈iger, T. (Thomas), Ulmer, H.U. (Hans), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J. (James), Slager, S. (Susan), Toland, A.E. (Amanda E.), Vachon, C. (Celine), Yannoukakos, D. (Drakoulis), Shen, C.-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Huang, C.-S. (Chiun-Sheng), Hou, M.-F. (Ming-Feng), González-Neira, A. (Anna), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Luccarini, C. (Craig), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Bolla, M.K. (Manjeet K.), Wang, J. (Jinxia), Easton, D.F. (Douglas), García-Closas, M. (Montserrat), Dowsett, M. (Mitch), Ashworth, A. (Alan), Swerdlow, A.J. (Anthony ), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, and Fletcher, O. (Olivia)
Abstract: INTRODUCTION: We have previously shown that a tag single nucleotide polymorphism (rs10235235), which maps to the CYP3A locus (7q22.1), was associated with a reduction in premenopausal urinary estrone glucuronide levels and a modest reduction in risk of breast cancer in women age ≤50 years.METHODS: We further investigated the association of rs10235235 with breast cancer risk in a large case control study of 47,346 cases and 47,570 controls from 52 studies participating in the Breast Cancer Association Consortium. Genotyping of rs10235235 was conducted using a custom Illumina Infinium array. Stratified analyses were conducted to determine whether this association was modified by age at diagnosis, ethnicity, age at menarche or tumor characteristics.RESULTS: We confirmed the association of rs10235235 with breast
Published: 2014
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165. Association between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data

Author: Holmes, M.V. (Michael), Dale, C.E. (Caroline), Zuccolo, L. (Luisa), Silverwood, R.J. (Richard), Guo, Y. (Yongli), Ye, Z. (Zheng), Prieto-Merino, D. (David), Dehghan, A. (Abbas), Trompet, S. (Stella), Wong, A. (Andrew), Cavadino, A. (Alana), Drogan, D. (Dagmar), Padmanabhan, S. (Sandosh), Li, S. (Shanshan), Yesupriya, A. (Ajay), Leusink, M. (Maarten), Sundstrom, J. (Johan), Hubacek, J.A. (Jaroslav A.), Pikhart, H. (Hynek), Swerdlow, D.I. (Daniel), Panayiotou, A.G. (Andrie), Borinskaya, S.A. (Svetlana), Finan, C. (Chris), Shah, S. (Sonia), Kuchenbaecker, K.B. (Karoline), Shah, T. (Tina), Engmann, J. (Jorgen), Folkersen, L. (Lasse), Eriksson, P. (Per), Ricceri, F. (Fulvio), Melander, O. (Olle), Sacerdote, C. (Carlotta), Gamble, D.M. (Dale), Rayaprolu, S. (Sruti), Ross, O.A. (Owen), McLachlan, S. (Stela), Vikhireva, O. (Olga), Sluijs, I., Scott, R.A. (Robert), Adamkova, V. (Vera), Flicker, L. (Leon), Bockxmeer, F.M. (Frank) van, Power, C. (Christine), Marques-Vidal, P. (Pedro), Meade, T. (Tom), Marmot, M. (Michael), Ferro, M.T. (María), Paulos-Pinheiro, S. (Sofia), Humphries, S.E. (Steve), Talmud, P.J., Leach, I.M. (Irene Mateo), Verweij, N. (Niek), Linneberg, A. (Allan), Skaaby, T. (Tea), Doevendans, P.A. (Pieter), Cramer, M.-J. (Maarten-Jan), Harst, P. (Pim) van der, Klungel, O.H. (Olaf), Dowling, N. (Nicole), Dominiczak, A. (Anna), Kumari, M. (Meena), Nicolaides, A.N. (Andrew), Weikert, C. (Cornelia), Boeing, H. (Heiner), Ebrahim, S. (Shanil), Gaunt, T.R. (Tom), Price, J.F. (Jackie F.), Lannfelt, L. (Lars), Peasey, A. (Anne), Kubinova, R., Pajak, A. (Andrzej), Malyutina, S., Voevoda, M.I. (Mikhail), Tamosiunas, A. (Abdonas), Maitland-van der Zee, A-H. (Anke-Hilse), Norman, P.E. (Paul), Hankey, G.J. (Graeme), Bergmann, M.M. (Manuela), Hofman, A. (Albert), Franco, O.H. (Oscar), Cooper, J. (Jim), Palmen, J. (Jutta), Spiering, W. (Wilko), Jong, P.A. (Pim) de, Kuh, D. (Diana), Hardy, R., Uitterlinden, A.G. (André), Ikram, M.A. (Arfan), Ford, I. (Ian), Hyppönen, E. (Elina), Almeida, O.P. (Osvaldo), Wareham, N.J. (Nick), Khaw, K-T. (Kay-Tee), Hamsten, A. (Anders), Husemoen, L.L.N. (Lise Lotte), Tjønneland, A. (Anne), Tolstrup, J.S. (Janne), Rimm, E., Beulens, J.W.J. (Joline), Verschuren, W.M.M. (W. M. Monique), Onland-Moret, N.C. (Charlotte), Hofker, M.A. (Marten), Wannamethee, S.G. (Goya), Whincup, P.H. (Peter), Morris, R.W. (Richard), Vicente, A.M. (Astrid), Watkins, H. (Hugh), Farrall, M. (Martin), Jukema, J.W. (Jan Wouter), Meschia, J.F. (James F.), Cupples, L.A. (Adrienne), Sharp, S.J. (Stephen), Fornage, M. (Myriam), Kooperberg, C. (Charles), LaCroix, A.Z. (Andrea), Dai, J.Y. (James), Lanktree, M.B. (Matthew), Siscovick, D.S. (David), Jorgenson, E. (Eric), Spring, B. (Bonnie), Coresh, J. (Josef), Li, Y.R. (Yun), Buxbaum, S.G. (Sarah), Schreiner, P.J. (Pamela), Ellison, D.H. (David), Tsai, M.Y. (Michael), Patel, S.R. (Sanjay), Redline, S. (Susan), Johnson, A.D. (Andrew), Hoogeveen, R.C. (Ron), Hakonarson, H. (Hakon), Rotter, J.I. (Jerome), Boerwinkle, E.A. (Eric), Bakker, P.I.W. (Paul) de, Kivimaki, M. (Mika), Asselbergs, F.W. (Folkert), Sattar, N. (Naveed), Lawlor, D.A. (Debbie), Whittaker, J. (John), Smith, A.V. (Davey), Mukamal, K. (Kenneth), Psaty, B.M. (Bruce), Wilson, J.G. (James), Lange, L.A. (Leslie), Hamidovic, A. (Ajna), Nordestgaard, B.G. (Børge), Bobak, M. (Martin), Leon, D.A. (David), Langenberg, C. (Claudia), Palmer, T.M. (Tom), Reiner, A.P. (Alex), Keating, J. (John), Dudbridge, F. (Frank), Casas, J.P. (Juan), Holmes, M.V. (Michael), Dale, C.E. (Caroline), Zuccolo, L. (Luisa), Silverwood, R.J. (Richard), Guo, Y. (Yongli), Ye, Z. (Zheng), Prieto-Merino, D. (David), Dehghan, A. (Abbas), Trompet, S. (Stella), Wong, A. (Andrew), Cavadino, A. (Alana), Drogan, D. (Dagmar), Padmanabhan, S. (Sandosh), Li, S. (Shanshan), Yesupriya, A. (Ajay), Leusink, M. (Maarten), Sundstrom, J. (Johan), Hubacek, J.A. (Jaroslav A.), Pikhart, H. (Hynek), Swerdlow, D.I. (Daniel), Panayiotou, A.G. (Andrie), Borinskaya, S.A. (Svetlana), Finan, C. (Chris), Shah, S. (Sonia), Kuchenbaecker, K.B. (Karoline), Shah, T. (Tina), Engmann, J. (Jorgen), Folkersen, L. (Lasse), Eriksson, P. (Per), Ricceri, F. (Fulvio), Melander, O. (Olle), Sacerdote, C. (Carlotta), Gamble, D.M. (Dale), Rayaprolu, S. (Sruti), Ross, O.A. (Owen), McLachlan, S. (Stela), Vikhireva, O. (Olga), Sluijs, I., Scott, R.A. (Robert), Adamkova, V. (Vera), Flicker, L. (Leon), Bockxmeer, F.M. (Frank) van, Power, C. (Christine), Marques-Vidal, P. (Pedro), Meade, T. (Tom), Marmot, M. (Michael), Ferro, M.T. (María), Paulos-Pinheiro, S. (Sofia), Humphries, S.E. (Steve), Talmud, P.J., Leach, I.M. (Irene Mateo), Verweij, N. (Niek), Linneberg, A. (Allan), Skaaby, T. (Tea), Doevendans, P.A. (Pieter), Cramer, M.-J. (Maarten-Jan), Harst, P. (Pim) van der, Klungel, O.H. (Olaf), Dowling, N. (Nicole), Dominiczak, A. (Anna), Kumari, M. (Meena), Nicolaides, A.N. (Andrew), Weikert, C. (Cornelia), Boeing, H. (Heiner), Ebrahim, S. (Shanil), Gaunt, T.R. (Tom), Price, J.F. (Jackie F.), Lannfelt, L. (Lars), Peasey, A. (Anne), Kubinova, R., Pajak, A. (Andrzej), Malyutina, S., Voevoda, M.I. (Mikhail), Tamosiunas, A. (Abdonas), Maitland-van der Zee, A-H. (Anke-Hilse), Norman, P.E. (Paul), Hankey, G.J. (Graeme), Bergmann, M.M. (Manuela), Hofman, A. (Albert), Franco, O.H. (Oscar), Cooper, J. (Jim), Palmen, J. (Jutta), Spiering, W. (Wilko), Jong, P.A. (Pim) de, Kuh, D. (Diana), Hardy, R., Uitterlinden, A.G. (André), Ikram, M.A. (Arfan), Ford, I. (Ian), Hyppönen, E. (Elina), Almeida, O.P. (Osvaldo), Wareham, N.J. (Nick), Khaw, K-T. (Kay-Tee), Hamsten, A. (Anders), Husemoen, L.L.N. (Lise Lotte), Tjønneland, A. (Anne), Tolstrup, J.S. (Janne), Rimm, E., Beulens, J.W.J. (Joline), Verschuren, W.M.M. (W. M. Monique), Onland-Moret, N.C. (Charlotte), Hofker, M.A. (Marten), Wannamethee, S.G. (Goya), Whincup, P.H. (Peter), Morris, R.W. (Richard), Vicente, A.M. (Astrid), Watkins, H. (Hugh), Farrall, M. (Martin), Jukema, J.W. (Jan Wouter), Meschia, J.F. (James F.), Cupples, L.A. (Adrienne), Sharp, S.J. (Stephen), Fornage, M. (Myriam), Kooperberg, C. (Charles), LaCroix, A.Z. (Andrea), Dai, J.Y. (James), Lanktree, M.B. (Matthew), Siscovick, D.S. (David), Jorgenson, E. (Eric), Spring, B. (Bonnie), Coresh, J. (Josef), Li, Y.R. (Yun), Buxbaum, S.G. (Sarah), Schreiner, P.J. (Pamela), Ellison, D.H. (David), Tsai, M.Y. (Michael), Patel, S.R. (Sanjay), Redline, S. (Susan), Johnson, A.D. (Andrew), Hoogeveen, R.C. (Ron), Hakonarson, H. (Hakon), Rotter, J.I. (Jerome), Boerwinkle, E.A. (Eric), Bakker, P.I.W. (Paul) de, Kivimaki, M. (Mika), Asselbergs, F.W. (Folkert), Sattar, N. (Naveed), Lawlor, D.A. (Debbie), Whittaker, J. (John), Smith, A.V. (Davey), Mukamal, K. (Kenneth), Psaty, B.M. (Bruce), Wilson, J.G. (James), Lange, L.A. (Leslie), Hamidovic, A. (Ajna), Nordestgaard, B.G. (Børge), Bobak, M. (Martin), Leon, D.A. (David), Langenberg, C. (Claudia), Palmer, T.M. (Tom), Reiner, A.P. (Alex), Keating, J. (John), Dudbridge, F. (Frank), and Casas, J.P. (Juan)
Published: 2014
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166. Glycated hemoglobin measurement and prediction of cardiovascular disease

Author: Angelantonio, E. (Emanuele) di, Gao, P. (Pei), Khan, H. (Hassan), Butterworth, A.S. (Adam), Wormser, D. (David), Kaptoge, S. (Stephen), Kondapally Seshasai, S.R. (Sreenivasa Rao), Thompson, A. (Alex), Sarwar, S. (Sheryar), Willeit, J. (Johann), Ridker, P.M. (Paul), Barr, E.L.M., Khaw, K-T. (Kay-Tee), Psaty, B.M. (Bruce), Brenner, H. (Hermann), Balkau, B. (Beverley), Dekker, J.M. (Jacqueline), Lawlor, D.A. (Debbie), Daimon, M. (Makoto), Njølstad, I. (Inger), Nissinen, A. (Aulikki), Brunner, E. (Eric), Kuller, L.H. (Lewis), Price, J.F. (Jackie F.), Sundstrom, J. (Johan), Knuiman, M.W. (Matthew), Feskens, E.J.M. (Edith), Verschuren, W.M.M. (W. M. Monique), Wald, A. (Anna), Bakker, S.J.L. (Stephan), Whincup, P.H. (Peter), Ford, I. (Ian), Goldbourt, U. (Uri), Gómez-de-la-Cámara, A. (Agustín), Gallacher, J. (John), Simons, L.A. (Leon), Rosengren, A. (Annika), Sutherland, S.E. (Susan), Björkelund, C. (Cecilia), Blazer, D.G. (Dan), Wassertheil-Smoller, S. (Sylvia), Onat, A. (Altan), Marín Ibañez, A. (Alejandro), Casiglia, E. (Edoardo), Jukema, J.W. (Jan Wouter), Simpson, L.M. (Lara), Giampaoli, S. (Simona), Nordestgaard, B.G. (Børge), Selmer, R. (Randi), Wennberg, P. (Patrik), Kauhanen, J. (Jussi), Salonen, J.T., Dankner, R. (Rachel), Barrett-Connor, E. (Elizabeth), Kavousi, M. (Maryam), Gudnason, V. (Vilmundur), Evans, D.A. (Denis), Wallace, R.B. (Robert), Cushman, M. (Mary Ann), D'Agostino, R.B. (Ralph), Umans, J.G. (Jason), Kiyohara, Y. (Yutaka), Nakagawa, H. (Hidaeki), Sato, S. (Shinichi), Gillum, R.F. (Richard), Folsom, A.R. (Aaron), Schouw, Y.T. (Yvonne) van der, Moons, K.G.M. (Karel), Griffin, S. (Simon), Sattar, N. (Naveed), Wareham, N.J. (Nick), Selvin, E. (Elizabeth), Thompson, S.G. (Simon), Danesh, J. (John), Angelantonio, E. (Emanuele) di, Gao, P. (Pei), Khan, H. (Hassan), Butterworth, A.S. (Adam), Wormser, D. (David), Kaptoge, S. (Stephen), Kondapally Seshasai, S.R. (Sreenivasa Rao), Thompson, A. (Alex), Sarwar, S. (Sheryar), Willeit, J. (Johann), Ridker, P.M. (Paul), Barr, E.L.M., Khaw, K-T. (Kay-Tee), Psaty, B.M. (Bruce), Brenner, H. (Hermann), Balkau, B. (Beverley), Dekker, J.M. (Jacqueline), Lawlor, D.A. (Debbie), Daimon, M. (Makoto), Njølstad, I. (Inger), Nissinen, A. (Aulikki), Brunner, E. (Eric), Kuller, L.H. (Lewis), Price, J.F. (Jackie F.), Sundstrom, J. (Johan), Knuiman, M.W. (Matthew), Feskens, E.J.M. (Edith), Verschuren, W.M.M. (W. M. Monique), Wald, A. (Anna), Bakker, S.J.L. (Stephan), Whincup, P.H. (Peter), Ford, I. (Ian), Goldbourt, U. (Uri), Gómez-de-la-Cámara, A. (Agustín), Gallacher, J. (John), Simons, L.A. (Leon), Rosengren, A. (Annika), Sutherland, S.E. (Susan), Björkelund, C. (Cecilia), Blazer, D.G. (Dan), Wassertheil-Smoller, S. (Sylvia), Onat, A. (Altan), Marín Ibañez, A. (Alejandro), Casiglia, E. (Edoardo), Jukema, J.W. (Jan Wouter), Simpson, L.M. (Lara), Giampaoli, S. (Simona), Nordestgaard, B.G. (Børge), Selmer, R. (Randi), Wennberg, P. (Patrik), Kauhanen, J. (Jussi), Salonen, J.T., Dankner, R. (Rachel), Barrett-Connor, E. (Elizabeth), Kavousi, M. (Maryam), Gudnason, V. (Vilmundur), Evans, D.A. (Denis), Wallace, R.B. (Robert), Cushman, M. (Mary Ann), D'Agostino, R.B. (Ralph), Umans, J.G. (Jason), Kiyohara, Y. (Yutaka), Nakagawa, H. (Hidaeki), Sato, S. (Shinichi), Gillum, R.F. (Richard), Folsom, A.R. (Aaron), Schouw, Y.T. (Yvonne) van der, Moons, K.G.M. (Karel), Griffin, S. (Simon), Sattar, N. (Naveed), Wareham, N.J. (Nick), Selvin, E. (Elizabeth), Thompson, S.G. (Simon), and Danesh, J. (John)
Published: 2014
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167. Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation

Author: Ghoussaini, M. (Maya), Edwards, S.L. (Stacey), Michailidou, K. (Kyriaki), Nord, S. (Silje), Cowper-Sallari, R. (Richard), Desai, K. (Kinjal), Kar, S. (Siddhartha), Hillman, K.M. (Kristine), Kaufmann, S. (Susanne), Glubb, D.M. (Dylan), Beesley, J. (Jonathan), Dennis, J. (Joe), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dicks, E. (Ed), Guo, Q. (Qi), Schmidt, M.K. (Marjanka), Shah, M. (Mitul), Luben, R.N. (Robert), Brown, J. (Judith), Czene, K. (Kamila), Darabi, H. (Hatef), Eriksson, M. (Mats), Klevebring, D. (Daniel), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Lambrechts, D. (Diether), Thienpont, B. (Bernard), Neven, P. (Patrick), Wildiers, H. (Hans), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Rutgers, E.J.T. (Emiel), Couch, F.J. (Fergus), Olson, J.E. (Janet), Hallberg, B. (Boubou), Vachon, C. (Celine), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Gibson, L.J. (Lorna), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Hall, P. (Per), Li, J. (Jingmei), Liu, J. (Jianjun), Humphreys, M.K. (Manjeet), Kang, D. (Daehee), Choi, J.-Y. (J.), Park, S.K. (Sue), Noh, D-Y. (Dong-Young), Matsuo, K. (Keitaro), Ito, H. (Hidemi), Iwata, H. (Hisato), Yatabe, Y. (Yasushi), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Sanchez, M. (Marie), Burwinkel, B. (Barbara), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Wu, A.H. (Anna H.), Tseng, C.-C. (Chiu-Chen), Van Den Berg, D. (David), Stram, D.O. (Daniel O.), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Menéndez, P. (Primitiva), Shu, X.-O. (Xiao-Ou), Lu, W. (Wei), Gao, Y. (Ying), Cai, Q. (Qiuyin), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Tchatchou, S. (Sandrine), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Lindblom, A. (Annika), Margolin, S. (Sara), Teo, S.-H. (Soo-Hwang), Yip, C.H. (Cheng Har), Lee, D.S.C. (Daphne S.C.), Wong, T.Y. (Tien Yin), Hooning, M.J. (Maartje), Martens, J.W.M. (John W. M.), Collée, J.M. (Margriet), Deurzen, C.H.M. (Carolien) van, Hopper, J.L. (John), Southey, M.C. (Melissa), Tsimiklis, H. (Helen), Kapuscinski, M.K. (Miroslav K.), Shen, C-Y. (Chen-Yang), Wu, P.-E. (Pei-Ei), Yu, J-C. (Jyh-Cherng), Chen, S.-T., Alnæs, G.G. (Grethe), Borresen-Dale, A.-L. (Anne-Lise), Giles, G.G. (Graham), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Muir, K.R. (K.), Lophatananon, A. (Artitaya), Stewart-Brown, S. (Sarah), Siriwanarangsan, P. (Pornthep), Hartman, M. (Mikael), Miao, X., Buhari, S.A.B.S. (Shaik Ahmad Bin Syed), Teo, Y.Y. (Yik Ying), Fasching, P.A. (Peter), Haeberle, L. (Lothar), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Schoemaker, M. (Minouk), García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Koto, Y.-D. (Yon-Dschun), Radice, P. (Paolo), Peterlongo, P. (Paolo), Bonnani, B. (Bernardo), Volorio, S. (Sara), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Helbig, S. (Sonja), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Slager, S. (Susan), Toland, A.E. (Amanda), Ambrosone, C.B. (Christine), Yannoukakos, D. (Drakoulis), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Hamann, U. (Ute), Torres, D. (Diana), Zheng, W. (Wei), Long, J. (Jirong), Anton-Culver, H. (Hoda), Neuhausen, S.L. (Susan), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Maranian, M. (Melanie), Healey, S. (Sue), González-Neira, A. (Anna), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Álvarez, N. (Nuria), Herrero, D. (Daniel), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Santiago, I. (Ines) de, Carroll, J. (Jason), Caldas, C. (Carlos), Brown, M. (Melissa), Lupien, M. (Mathieu), Kristensen, V. (Vessela), Pharoah, P.D.P. (Paul), Chenevix-Trench, G. (Georgia), French, J.D. (Juliet), Easton, D.F. (Douglas), Dunning, A.M. (Alison), Webb, P. (Penny), De Fazio, A. (Anna), Ghoussaini, M. (Maya), Edwards, S.L. (Stacey), Michailidou, K. (Kyriaki), Nord, S. (Silje), Cowper-Sallari, R. (Richard), Desai, K. (Kinjal), Kar, S. (Siddhartha), Hillman, K.M. (Kristine), Kaufmann, S. (Susanne), Glubb, D.M. (Dylan), Beesley, J. (Jonathan), Dennis, J. (Joe), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dicks, E. (Ed), Guo, Q. (Qi), Schmidt, M.K. (Marjanka), Shah, M. (Mitul), Luben, R.N. (Robert), Brown, J. (Judith), Czene, K. (Kamila), Darabi, H. (Hatef), Eriksson, M. (Mats), Klevebring, D. (Daniel), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Lambrechts, D. (Diether), Thienpont, B. (Bernard), Neven, P. (Patrick), Wildiers, H. (Hans), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Rutgers, E.J.T. (Emiel), Couch, F.J. (Fergus), Olson, J.E. (Janet), Hallberg, B. (Boubou), Vachon, C. (Celine), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Gibson, L.J. (Lorna), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Hall, P. (Per), Li, J. (Jingmei), Liu, J. (Jianjun), Humphreys, M.K. (Manjeet), Kang, D. (Daehee), Choi, J.-Y. (J.), Park, S.K. (Sue), Noh, D-Y. (Dong-Young), Matsuo, K. (Keitaro), Ito, H. (Hidemi), Iwata, H. (Hisato), Yatabe, Y. (Yasushi), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Sanchez, M. (Marie), Burwinkel, B. (Barbara), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Wu, A.H. (Anna H.), Tseng, C.-C. (Chiu-Chen), Van Den Berg, D. (David), Stram, D.O. (Daniel O.), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Menéndez, P. (Primitiva), Shu, X.-O. (Xiao-Ou), Lu, W. (Wei), Gao, Y. (Ying), Cai, Q. (Qiuyin), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Tchatchou, S. (Sandrine), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Lindblom, A. (Annika), Margolin, S. (Sara), Teo, S.-H. (Soo-Hwang), Yip, C.H. (Cheng Har), Lee, D.S.C. (Daphne S.C.), Wong, T.Y. (Tien Yin), Hooning, M.J. (Maartje), Martens, J.W.M. (John W. M.), Collée, J.M. (Margriet), Deurzen, C.H.M. (Carolien) van, Hopper, J.L. (John), Southey, M.C. (Melissa), Tsimiklis, H. (Helen), Kapuscinski, M.K. (Miroslav K.), Shen, C-Y. (Chen-Yang), Wu, P.-E. (Pei-Ei), Yu, J-C. (Jyh-Cherng), Chen, S.-T., Alnæs, G.G. (Grethe), Borresen-Dale, A.-L. (Anne-Lise), Giles, G.G. (Graham), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Muir, K.R. (K.), Lophatananon, A. (Artitaya), Stewart-Brown, S. (Sarah), Siriwanarangsan, P. (Pornthep), Hartman, M. (Mikael), Miao, X., Buhari, S.A.B.S. (Shaik Ahmad Bin Syed), Teo, Y.Y. (Yik Ying), Fasching, P.A. (Peter), Haeberle, L. (Lothar), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Schoemaker, M. (Minouk), García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Koto, Y.-D. (Yon-Dschun), Radice, P. (Paolo), Peterlongo, P. (Paolo), Bonnani, B. (Bernardo), Volorio, S. (Sara), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Helbig, S. (Sonja), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Slager, S. (Susan), Toland, A.E. (Amanda), Ambrosone, C.B. (Christine), Yannoukakos, D. (Drakoulis), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Hamann, U. (Ute), Torres, D. (Diana), Zheng, W. (Wei), Long, J. (Jirong), Anton-Culver, H. (Hoda), Neuhausen, S.L. (Susan), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Maranian, M. (Melanie), Healey, S. (Sue), González-Neira, A. (Anna), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Álvarez, N. (Nuria), Herrero, D. (Daniel), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Santiago, I. (Ines) de, Carroll, J. (Jason), Caldas, C. (Carlos), Brown, M. (Melissa), Lupien, M. (Mathieu), Kristensen, V. (Vessela), Pharoah, P.D.P. (Paul), Chenevix-Trench, G. (Georgia), French, J.D. (Juliet), Easton, D.F. (Douglas), Dunning, A.M. (Alison), Webb, P. (Penny), and De Fazio, A. (Anna)
Abstract: GWAS have identified a breast cancer susceptibility locus on 2q35. Here we report the fine mapping of this locus using data from 101,943 subjects from 50 case-control studies. We genotype 276 SNPs using the 'iCOGS' genotyping array and impute genotypes for a further 1,284 using 1000 Genomes Project data. All but two, strongly correlated SNPs (rs4442975 G/T and rs6721996 G/A) are excluded as candidate causal variants at odds against >100:1. The best functional candidate, rs4442975, is associated with oestrogen receptor positive (ER+) disease with an odds ratio (OR) in Europeans of 0.85 (95% confidence interval=0.84-0.87; P=1.7 × 10-43) per t-allele. This SNP flanks a transcriptional enhancer that physically interacts with the promoter of IGFBP5 (encoding insulin-like growth factor-binding protein 5) and displays allele-specific gene expression, FOXA1 binding and chromatin looping. Evidence suggests that the g-allele confers increased breast cancer susceptibility through relative downregulation of IGFBP5, a gene with known roles in breast cell biology.
Published: 2014
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168. Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer

Author: Kabisch, M. (Maria), Bermejo, J.L. (Justo Lorenzo), Dünnebier, T. (Thomas), Ying, S. (Shibo), Michailidou, K. (Kyriaki), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Shah, M. (Mitul), Perkins, B. (Barbara), Czene, K. (Kamila), Darabi, H. (Hatef), Eriksson, M. (Mikael), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Lambrechts, D. (Diether), Neven, P. (Patrick), Peeters, S.T.H. (Stephanie), Weltens, C. (Caroline), Couch, F.J. (Fergus), Olson, J.E. (Janet), Wang, X. (Xianshu), Purrington, K. (Kristen), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Johnson, N. (Nichola), Fletcher, O. (Olivia), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Cornelissen, S. (Sten), Hogervorst, F.B.L. (Frans), Li, J. (Jingmei), Brand, J.S. (Judith S.), Humphreys, M.K. (Manjeet), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Sanchez, M. (Marie), Burwinkel, B. (Barbara), Marme, F. (Federick), Yang, R. (Rongxi), Bugert, P. (Peter), González-Neira, A. (Anna), Benítez, J. (Javier), Zamora, M.P. (Pilar), Arias Pérez, J.I. (José Ignacio), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Tchatchou, S. (Sandrine), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Haiman, C.A. (Christopher), Schumacher, F.R. (Fredrick), Henderson, B.E. (Brian), Le Marchand, L. (Loic), Lindblom, A. (Annika), Margolin, S. (Sara), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Kriege, M. (Mieke), Koppert, L.B. (Linetta), Hopper, J. (John), Southey, M.C. (Melissa), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Slettedahl, S. (Seth), Toland, A.E. (Amanda), Vachon, C. (Celine), Yannoukakos, D. (Drakoulis), Giles, G.G. (Graham), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Fasching, P.A. (Peter), Ruebner, M. (Matthias), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Ashworth, A. (Alan), Orr, N. (Nick), Schoemaker, M. (Minouk), Swerdlow, A.J. (Anthony ), García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Ko, Y-D. (Yon-Dschun), Radice, P. (Paolo), Peterlongo, P. (Paolo), Scuvera, G. (Giulietta), Fortuzzi, S. (S.), Bogdanova, N.V. (Natalia), Dörk, T. (Thilo), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Devilee, P. (Peter), Tollenaar, R.A.M. (Robert A.M.), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Zheng, W. (Wei), Shrubsole, M. (Martha), Cai, Q. (Qiuyin), Torres, D. (Diana), Anton-Culver, H. (Hoda), Kristensen, V. (Vessela), Bacot, F. (Francois), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Maranian, M. (Melanie), Simard, J. (Jacques), Chenevix-Trench, G. (Georgia), Hall, P. (Per), Pharoah, P.D.P. (Paul), Dunning, A.M. (Alison), Easton, D.F. (Douglas), Hamann, U. (Ute), Kabisch, M. (Maria), Bermejo, J.L. (Justo Lorenzo), Dünnebier, T. (Thomas), Ying, S. (Shibo), Michailidou, K. (Kyriaki), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Shah, M. (Mitul), Perkins, B. (Barbara), Czene, K. (Kamila), Darabi, H. (Hatef), Eriksson, M. (Mikael), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Lambrechts, D. (Diether), Neven, P. (Patrick), Peeters, S.T.H. (Stephanie), Weltens, C. (Caroline), Couch, F.J. (Fergus), Olson, J.E. (Janet), Wang, X. (Xianshu), Purrington, K. (Kristen), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Johnson, N. (Nichola), Fletcher, O. (Olivia), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Cornelissen, S. (Sten), Hogervorst, F.B.L. (Frans), Li, J. (Jingmei), Brand, J.S. (Judith S.), Humphreys, M.K. (Manjeet), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Sanchez, M. (Marie), Burwinkel, B. (Barbara), Marme, F. (Federick), Yang, R. (Rongxi), Bugert, P. (Peter), González-Neira, A. (Anna), Benítez, J. (Javier), Zamora, M.P. (Pilar), Arias Pérez, J.I. (José Ignacio), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Tchatchou, S. (Sandrine), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Haiman, C.A. (Christopher), Schumacher, F.R. (Fredrick), Henderson, B.E. (Brian), Le Marchand, L. (Loic), Lindblom, A. (Annika), Margolin, S. (Sara), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Kriege, M. (Mieke), Koppert, L.B. (Linetta), Hopper, J. (John), Southey, M.C. (Melissa), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Slettedahl, S. (Seth), Toland, A.E. (Amanda), Vachon, C. (Celine), Yannoukakos, D. (Drakoulis), Giles, G.G. (Graham), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Fasching, P.A. (Peter), Ruebner, M. (Matthias), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Ashworth, A. (Alan), Orr, N. (Nick), Schoemaker, M. (Minouk), Swerdlow, A.J. (Anthony ), García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Ko, Y-D. (Yon-Dschun), Radice, P. (Paolo), Peterlongo, P. (Paolo), Scuvera, G. (Giulietta), Fortuzzi, S. (S.), Bogdanova, N.V. (Natalia), Dörk, T. (Thilo), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Devilee, P. (Peter), Tollenaar, R.A.M. (Robert A.M.), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Zheng, W. (Wei), Shrubsole, M. (Martha), Cai, Q. (Qiuyin), Torres, D. (Diana), Anton-Culver, H. (Hoda), Kristensen, V. (Vessela), Bacot, F. (Francois), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Maranian, M. (Melanie), Simard, J. (Jacques), Chenevix-Trench, G. (Georgia), Hall, P. (Per), Pharoah, P.D.P. (Paul), Dunning, A.M. (Alison), Easton, D.F. (Douglas), and Hamann, U. (Ute)
Abstract: The chromosomal passenger complex (CPC) plays a pivotal role in the regulation of cell division. Therefore, inherited CPC variability could influence tumor development. The present candidate gene approach investigates the relationship between single nucleotide polymorphisms (SNPs) in genes encoding key CPC components and breast cancer risk. Fifteen SNPs in four CPC genes (INCENP, AURKB, BIRC5 and CDCA8) were genotyped in 88 911 European women from 39 case-control studies of the Breast Cancer Association Consortium. Possible associations were investigated in fixedeffects meta-analyses. The synonymous SNP rs1675126 in exon 7 of INCENP was associated with overall breast cancer risk [per A allele odds ratio (OR) 0.95, 95% confidence interval (CI) 0.92-0.98, P = 0.007] and particularly with estrogen receptor (ER)-negative breast tumors (per A allele OR 0.89, 95% CI 0.83-0.95, P = 0.0005). SNPs not directly genotyped were imputed based on 1000 Genomes. The SNPs rs1047739 in the 3′ untranslated region and rs144045115 downstream of INCENP showed the strongest association signals for overall (per T allele OR 1.03, 95% CI 1.00-1.06, P = 0.0009) and ER-negative breast cancer risk (per A allele OR 1.06, 95% CI 1.02-1.10, P = 0.0002). Two genotyped SNPs in BIRC5 were associated with familial breast cancer risk (top SNP rs2071214: per G allele OR 1.12, 95% CI 1.04-1.21, P = 0.002). The data suggest that INCENP in the CPC pathway contributes to ER-nega
Published: 2014
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169. MicroRNA related polymorphisms and breast cancer risk

Author: Khan, S. (Sofia), Greco, D. (Dario), Michailidou, K. (Kyriaki), Milne, R.L. (Roger), Muranen, T.A. (Taru), Heikkinen, T. (Tuomas), Aaltonen, K. (Kirsimari), Dennis, J. (Joe), Bolla, M.K. (Manjeet), Liu, J. (Jianjun), Hall, P. (Per), Irwanto, A. (Astrid), Humphreys, M.K. (Manjeet), Li, J. (Jingmei), Czene, K. (Kamila), Chang-Claude, J. (Jenny), Hein, R. (Rebecca), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Fletcher, O. (Olivia), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Johnson, N. (Nichola), Gibson, L.J. (Lorna), Aitken, Z. (Zoe), Hopper, J.L. (John), Tsimiklis, H. (Helen), Bui, M. (Minh), Makalic, E. (Enes), Schmidt, D.F. (Daniel), Southey, M.C. (Melissa), Apicella, C. (Carmel), Stone, J. (Jennifer), Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Adank, M.A. (Muriel), Luijt, R.B. (Rob) van der, Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Müller-Myhsok, B. (B.), Lichtner, P. (Peter), Turnbull, C. (Clare), Rahman, N. (Nazneen), Chanock, S.J. (Stephen), Hunter, D. (David), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Hogervorst, F.B.L. (Frans), Fasching, P.A. (Peter), Schrauder, A. (André), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Benítez, J. (Javier), Zamora, P.M. (Pilar M.), Perez, J.I.A. (Jose Ignacio Arias), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), March, L.L. (Loic Le), Pharoah, P.D.P. (Paul), Dunning, A.M. (Alison), Shah, M. (Mitul), Luben, R.N. (Robert), Brown, J. (Judith), Couch, F.J. (Fergus), Wang, X. (X.), Vachon, C. (Celine), Olson, J.E. (Janet), Lambrechts, D. (Diether), Moisse, M. (Matthieu), Paridaens, R. (Robert), Christiaens, M.R. (Marie Rose), Guénel, P. (Pascal), Truong, T. (Thérèse), Laurent-Puig, P. (Pierre), Mulot, C. (Claire), Marme, F. (Frederick), Burwinkel, B. (Barbara), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Tchatchou, S. (Srine), Mulligan, A.-M. (Anna-Marie), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia), Anton-Culver, H. (Hoda), Darabi, H. (Hatef), Eriksson, M. (Mats), García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Lissowska, J. (Jolanta), Brinton, L.A. (Louise), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Kristensen, V. (Vessela), Slager, S. (Susan), Tol, A.E. (Ama E.), Ambrosone, C.B. (Christine), Yannoukakos, D. (Drakoulis), Lindblom, A. (Annika), Margolin, S. (Sara), Radice, P. (Paolo), Peterlongo, P. (Paolo), Barile, M. (Monica), Mariani, P. (Paolo), Hooning, M.J. (Maartje), Martens, J.W.M. (John), Collée, J.M. (Margriet), Jager, A. (Agnes), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Giles, G.G. (Graham), McLean, C.A. (Catriona Ann), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Ko, Y.-D. (Yon-Dschun), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Jones, M. (Michael), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Mannermaa, A. (Arto), Hamann, U. (Ute), Chenevix-Trench, G. (Georgia), Blomqvist, C. (Carl), Aittomäki, K. (Kristiina), Easton, D.F. (Douglas), Nevanlinna, H. (Heli), Khan, S. (Sofia), Greco, D. (Dario), Michailidou, K. (Kyriaki), Milne, R.L. (Roger), Muranen, T.A. (Taru), Heikkinen, T. (Tuomas), Aaltonen, K. (Kirsimari), Dennis, J. (Joe), Bolla, M.K. (Manjeet), Liu, J. (Jianjun), Hall, P. (Per), Irwanto, A. (Astrid), Humphreys, M.K. (Manjeet), Li, J. (Jingmei), Czene, K. (Kamila), Chang-Claude, J. (Jenny), Hein, R. (Rebecca), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Fletcher, O. (Olivia), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Johnson, N. (Nichola), Gibson, L.J. (Lorna), Aitken, Z. (Zoe), Hopper, J.L. (John), Tsimiklis, H. (Helen), Bui, M. (Minh), Makalic, E. (Enes), Schmidt, D.F. (Daniel), Southey, M.C. (Melissa), Apicella, C. (Carmel), Stone, J. (Jennifer), Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Adank, M.A. (Muriel), Luijt, R.B. (Rob) van der, Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Müller-Myhsok, B. (B.), Lichtner, P. (Peter), Turnbull, C. (Clare), Rahman, N. (Nazneen), Chanock, S.J. (Stephen), Hunter, D. (David), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Hogervorst, F.B.L. (Frans), Fasching, P.A. (Peter), Schrauder, A. (André), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Benítez, J. (Javier), Zamora, P.M. (Pilar M.), Perez, J.I.A. (Jose Ignacio Arias), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), March, L.L. (Loic Le), Pharoah, P.D.P. (Paul), Dunning, A.M. (Alison), Shah, M. (Mitul), Luben, R.N. (Robert), Brown, J. (Judith), Couch, F.J. (Fergus), Wang, X. (X.), Vachon, C. (Celine), Olson, J.E. (Janet), Lambrechts, D. (Diether), Moisse, M. (Matthieu), Paridaens, R. (Robert), Christiaens, M.R. (Marie Rose), Guénel, P. (Pascal), Truong, T. (Thérèse), Laurent-Puig, P. (Pierre), Mulot, C. (Claire), Marme, F. (Frederick), Burwinkel, B. (Barbara), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Tchatchou, S. (Srine), Mulligan, A.-M. (Anna-Marie), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia), Anton-Culver, H. (Hoda), Darabi, H. (Hatef), Eriksson, M. (Mats), García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Lissowska, J. (Jolanta), Brinton, L.A. (Louise), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Kristensen, V. (Vessela), Slager, S. (Susan), Tol, A.E. (Ama E.), Ambrosone, C.B. (Christine), Yannoukakos, D. (Drakoulis), Lindblom, A. (Annika), Margolin, S. (Sara), Radice, P. (Paolo), Peterlongo, P. (Paolo), Barile, M. (Monica), Mariani, P. (Paolo), Hooning, M.J. (Maartje), Martens, J.W.M. (John), Collée, J.M. (Margriet), Jager, A. (Agnes), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Giles, G.G. (Graham), McLean, C.A. (Catriona Ann), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Ko, Y.-D. (Yon-Dschun), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Jones, M. (Michael), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Mannermaa, A. (Arto), Hamann, U. (Ute), Chenevix-Trench, G. (Georgia), Blomqvist, C. (Carl), Aittomäki, K. (Kristiina), Easton, D.F. (Douglas), and Nevanlinna, H. (Heli)
Abstract: Genetic variations, such as single nucleotide polymorphisms (SNPs) in microRNAs (miRNA) or in the miRNA binding sites may affect the miRNA dependent gene expression regulation, which has been implicated in various cancers, including breast cancer, and may alter individual susceptibility to cancer. We investigated associations between miRNA related SNPs and breast cancer risk. First we evaluated 2,196 SNPs in a case-control study combining n
Published: 2014
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170. Genetic Predisposition to In Situ and Invasive Lobular Carcinoma of the Breast

Author: Sawyer, E.J. (Elinor), Roylance, R. (Rebecca), Petridis, C. (Christos), Brook, R.H., Nowinski, S. (Salpie), Papouli, E. (Efterpi), Fletcher, O. (Olivia), Pinder, S. (Sarah), Hanby, A. (Andrew), Kohut, K. (Kelly), Gorman, P. (Patricia), Caneppele, M. (Michele), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Johnson, N. (Nichola), Swann, R. (Ruth), Dwek, M. (Miriam), Perkins, K.-A. (Katherine-Anne), Gillett, C. (Cheryl), Houlston, R. (Richard), Ross, G. (Gillian), Ieso, P. (Paolo) de, Southey, M.C. (Melissa), Hopper, J.L. (John), Provenzano, E. (Elena), Apicella, C. (Carmel), Wesseling, J. (Jelle), Cornelissen, S. (Sten), Keeman, J.N., Fasching, P.A. (Peter), Jud, S.M. (Sebastian), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Kerin, M. (Michael), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Burwinkel, B. (Barbara), Guénel, P. (Pascal), Truong, T. (Thérèse), Laurent-Puig, P. (Pierre), Kerbrat, P. (Pierre), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Milne, R.L. (Roger), Perez, J.I.A. (Jose Ignacio Arias), Menéndez, P. (Primitiva), Benítez, J. (Javier), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Meindl, A. (Alfons), Lichtner, P. (Peter), Schmutzler, R.K. (Rita), Lochmann, M. (Magdalena), Brauch, H. (Hiltrud), Fischer, H.-P., Ko, Y-D. (Yon-Dschun), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Dörk, T. (Thilo), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Chenevix-Trench, G. (Georgia), Lambrechts, D. (Diether), Weltens, C. (Caroline), Limbergen, E. (Erik) van, Hatse, S. (Sigrid), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Radice, P. (Paolo), Peterlongo, P. (Paolo), Bonnani, B. (Bernardo), Volorio, S. (Sara), Giles, G.G. (Graham), Severi, G. (Gianluca), Baglietto, L. (Laura), McLean, C.A. (Catriona Ann), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Kristensen, V. (Vessela), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Kauppila, S. (Saila), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Devillee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Kriege, M. (Mieke), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Sherman, M.E. (Mark), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Ouweland, A.M.W. (Ans) van den, Deurzen, C.H.M. (Carolien) van, Li, J. (Jingmei), Czene, K. (Kamila), Humphreys, M.K. (Manjeet), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Shah, M. (Mitul), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Schoemaker, M. (Minouk), Couch, F.J. (Fergus), Hallberg, B. (Boubou), González-Neira, A. (Anna), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Tessier, Y. (Yann), Vincent, D. (Daniel), Bacot, F. (Francois), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Dunning, A.M. (Alison), Hall, P. (Per), Easton, D.F. (Douglas), Pharoah, P.D.P. (Paul), Schmidt, M.K. (Marjanka), Tomlinson, I.P. (Ian), García-Closas, M. (Montserrat), Sawyer, E.J. (Elinor), Roylance, R. (Rebecca), Petridis, C. (Christos), Brook, R.H., Nowinski, S. (Salpie), Papouli, E. (Efterpi), Fletcher, O. (Olivia), Pinder, S. (Sarah), Hanby, A. (Andrew), Kohut, K. (Kelly), Gorman, P. (Patricia), Caneppele, M. (Michele), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Johnson, N. (Nichola), Swann, R. (Ruth), Dwek, M. (Miriam), Perkins, K.-A. (Katherine-Anne), Gillett, C. (Cheryl), Houlston, R. (Richard), Ross, G. (Gillian), Ieso, P. (Paolo) de, Southey, M.C. (Melissa), Hopper, J.L. (John), Provenzano, E. (Elena), Apicella, C. (Carmel), Wesseling, J. (Jelle), Cornelissen, S. (Sten), Keeman, J.N., Fasching, P.A. (Peter), Jud, S.M. (Sebastian), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Kerin, M. (Michael), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Burwinkel, B. (Barbara), Guénel, P. (Pascal), Truong, T. (Thérèse), Laurent-Puig, P. (Pierre), Kerbrat, P. (Pierre), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Milne, R.L. (Roger), Perez, J.I.A. (Jose Ignacio Arias), Menéndez, P. (Primitiva), Benítez, J. (Javier), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Meindl, A. (Alfons), Lichtner, P. (Peter), Schmutzler, R.K. (Rita), Lochmann, M. (Magdalena), Brauch, H. (Hiltrud), Fischer, H.-P., Ko, Y-D. (Yon-Dschun), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Dörk, T. (Thilo), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Chenevix-Trench, G. (Georgia), Lambrechts, D. (Diether), Weltens, C. (Caroline), Limbergen, E. (Erik) van, Hatse, S. (Sigrid), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Radice, P. (Paolo), Peterlongo, P. (Paolo), Bonnani, B. (Bernardo), Volorio, S. (Sara), Giles, G.G. (Graham), Severi, G. (Gianluca), Baglietto, L. (Laura), McLean, C.A. (Catriona Ann), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Kristensen, V. (Vessela), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Kauppila, S. (Saila), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Devillee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Kriege, M. (Mieke), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Sherman, M.E. (Mark), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Ouweland, A.M.W. (Ans) van den, Deurzen, C.H.M. (Carolien) van, Li, J. (Jingmei), Czene, K. (Kamila), Humphreys, M.K. (Manjeet), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Shah, M. (Mitul), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Schoemaker, M. (Minouk), Couch, F.J. (Fergus), Hallberg, B. (Boubou), González-Neira, A. (Anna), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Tessier, Y. (Yann), Vincent, D. (Daniel), Bacot, F. (Francois), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Dunning, A.M. (Alison), Hall, P. (Per), Easton, D.F. (Douglas), Pharoah, P.D.P. (Paul), Schmidt, M.K. (Marjanka), Tomlinson, I.P. (Ian), and García-Closas, M. (Montserrat)
Abstract: Invasive lobular breast cancer (ILC) accounts for 10-15% of all invasive breast carcinomas. It is generally ER positive (ER+) and often associated with lobular carcinoma in situ (LCIS). Genome-wide association studies have identified more than 70 common polymorphisms that predispose to breast cancer, but these studies included predominantly ductal (IDC) carcinomas. To identify novel common polymorphisms that predispose to ILC and LCIS, we po
Published: 2014
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171. Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

Author: Lin, W.-Y. (Wei-Yu), Camp, N.J. (Nicola), Ghoussaini, M. (Maya), Beesley, J. (Jonathan), Michailidou, K. (Kyriaki), Hopper, J. (John), Apicella, C. (Carmel), Southey, M.C. (Melissa), Stone, J. (Jennifer), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Rutgers, E.J.T. (Emiel), Muir, K.R. (K.), Lophatananon, A. (Artitaya), Stewart-Brown, S. (Sarah), Siriwanarangsan, P. (Pornthep), Fasching, P.A. (Peter), Haeberle, L. (Lothar), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Fletcher, O. (Olivia), Johnson, N. (Nichola), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Sawyer, E.J. (Elinor), Cheng, T. (Timothy), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Marmé, F. (Frederik), Surowy, H. (Harald), Burwinkel, B. (Barbara), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Mulot, C. (Claire), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Menéndez, P. (Primitiva), González-Neira, A. (Anna), Pita, G. (Guillermo), Rosario Alonso, M., Álvarez, N. (Nuria), Herrero, D. (Daniel), Anton-Culver, H. (Hoda), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Meindl, A. (Alfons), Lichtner, P. (Peter), Schmutzler, R.K. (Rita), Müller-Myhsok, B. (B.), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Ko, Y.-D. (Yon-Dschun), Lin, W.-Y. (Wei-Yu), Camp, N.J. (Nicola), Ghoussaini, M. (Maya), Beesley, J. (Jonathan), Michailidou, K. (Kyriaki), Hopper, J. (John), Apicella, C. (Carmel), Southey, M.C. (Melissa), Stone, J. (Jennifer), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Rutgers, E.J.T. (Emiel), Muir, K.R. (K.), Lophatananon, A. (Artitaya), Stewart-Brown, S. (Sarah), Siriwanarangsan, P. (Pornthep), Fasching, P.A. (Peter), Haeberle, L. (Lothar), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Fletcher, O. (Olivia), Johnson, N. (Nichola), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Sawyer, E.J. (Elinor), Cheng, T. (Timothy), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Marmé, F. (Frederik), Surowy, H. (Harald), Burwinkel, B. (Barbara), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Mulot, C. (Claire), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Menéndez, P. (Primitiva), González-Neira, A. (Anna), Pita, G. (Guillermo), Rosario Alonso, M., Álvarez, N. (Nuria), Herrero, D. (Daniel), Anton-Culver, H. (Hoda), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Meindl, A. (Alfons), Lichtner, P. (Peter), Schmutzler, R.K. (Rita), Müller-Myhsok, B. (B.), Brauch, H. (Hiltrud), Brüning, T. (Thomas), and Ko, Y.-D. (Yon-Dschun)
Abstract: Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the role of CASP8 in breast cancer susceptibility, we carried out dense genotyping of this region in the Breast Cancer Association Consortium (BCAC). Single-nucleotide polymorphisms (SNPs) spanning a 1 Mb region around CASP8 were genotyped in 46 450 breast cancer cases and 42 600 controls of European origin from 41 studies participating in the BCAC as part of a custom genotyping array experiment (iCOGS). Missing genotypes and SNPs were imputed and, after quality exclusions, 501 typed and 1232 imputed SNPs were included in logistic regressionmodels adjusting for study and ancestry principal components. The SNPs retained in the final model were investigated further in data from nine genome-wide association studies (GWAS) comprising in total 10 052 case and 12 575 control subjects. The most significant association signal observed in European subjects was for the imputed intronic SNP rs1830298 in ALS2CR12 (telomeric to CASP8), with per allele odds ratio and 95% confidence interval [OR (95% confidence interval, CI)] for the minor allele of 1.05 (1.03-1.07), P = 1 × 10-5. Three additional independent signals from intronic SNPs were identified, in CASP8 (rs36043647), ALS2CR11 (rs59278883) and CFLAR (rs7558475). The association with rs1830298 was replicated in the imputed results from the combined GWAS (P=3 × 10-6), yielding a combined OR (95% CI) of 1.06 (1.04-1.08), P = 1 × 10-9. Analyses of gene expression associations in peripheral blood and normal breast tissue indicate that CASP8might be the target gene, suggesting amechanism involving apoptosis.
Published: 2014
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172. Refined histopathological predictors of BRCA1 and BRCA2 mutation status: A large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

Author: Spurdle, A.B. (Amanda), Couch, F.J. (Fergus), Parsons, M. (Marilyn), McGuffog, L. (Lesley), Barrowdale, D. (Daniel), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Healey, S. (Sue), Schmutzler, R.K. (Rita), Wapenschmidt, B. (Barbara), Rhiem, K. (Kerstin), Hahnen, E. (Eric), Engel, C. (Christoph), Meindl, A. (Alfons), Ditsch, N. (Nina), Arnold, N. (Norbert), Plendl, H. (Hansjoerg), Niederacher, D. (Dieter), Sutter, C. (Christian), Wang-Gohrke, S. (Shan), Steinemann, D. (Doris), Preisler-Adams, S. (Sabine), Kast, K. (Karin), Varon-Mateeva, R. (Raymonda), Ellis, S.D. (Steve), Frost, D. (Debra), Platte, R. (Radka), Perkins, J. (Jo), Evans, D.G. (Gareth), Izatt, L. (Louise), Eeles, R. (Rosalind), Adlard, L., Davidson, R. (Rosemarie), Cole, T.J. (Trevor), Scuvera, G. (Giulietta), Manoukian, S. (Siranoush), Bonnani, B. (Bernardo), Mariette, F. (F.), Fortuzzi, S. (S.), Viel, A. (Alessandra), Pasini, B. (Barbara), Papi, L. (Laura), Varesco, L. (Liliana), Balleine, R. (Rosemary), Nathanson, K.L. (Katherine), Domchek, S.M. (Susan), Offitt, K. (Kenneth), Jakubowska, A. (Anna), Lindor, N.M. (Noralane), Thomassen, M. (Mads), Jensen, U.B., Rantala, J. (Johanna), Borg, Å. (Åke), Andrulis, I.L. (Irene), Miron, A. (Alexander), Hansen, T.V.O. (Thomas), Caldes, T. (Trinidad), Neuhausen, S.L. (Susan), Toland, A.E. (Amanda), Nevanlinna, H. (Heli), Montagna, M. (Marco), Garber, J. (Judy), Godwin, A.K. (Andrew), Osorio, A. (Ana), Factor, R.E. (Rachel E.), Terry, M.B. (Mary B.), Rebbeck, R. (Timothy), Karlan, B.Y. (Beth), Southey, M.C. (Melissa), Rashid, M.U. (Muhammad), Tung, N. (Nadine), Pharoah, P.D.P. (Paul), Blows, F. (Fiona), Dunning, A.M. (Alison), Provenzano, E. (Elena), Hall, P. (Per), Czene, K. (Kamila), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Cornelissen, S. (Sten), Verhoef, S., Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Ekici, A.B. (Arif), Slamon, D.J. (Dennis), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Chang-Claude, J. (Jenny), Flesch-Janys, D. (Dieter), Rudolph, A. (Anja), Seibold, P. (Petra), Aittomäki, K. (Kristiina), Muranen, T.A. (Taru), Heikkilä, P. (Päivi), Blomqvist, C. (Carl), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Brinton, L.A. (Louise), Lissowska, J. (Jolanta), Olson, J.E. (Janet), Pankratz, V.S. (Shane), John, E.M. (Esther), Whittemore, A.S. (Alice), West, D. van, Hamann, U. (Ute), Torres, D. (Diana), Ulmer, H.U. (Hans), Rud̈iger, T. (Thomas), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Eccles, D. (Diana), Tapper, W. (William), Durcan, L. (Lorraine), Jones, L. (Louise), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Fletcher, O. (Olivia), Johnson, N. (Nichola), Dwek, M. (Miriam), Swann, R. (Ruth), Bane, A.L. (Anita L.), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Giles, G.G. (Graham), Milne, R.L. (Roger), Baglietto, L. (Laura), McLean, C.A. (Catriona Ann), Carpenter, J. (Jane), Clarke, C. (Christine), Scott, R.J. (Rodney), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Ko, Y-D. (Yon-Dschun), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Gronwald, J. (Jacek), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Park-Simon, T.-W., Hillemanns, P. (Peter), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Burwinkel, B. (Barbara), Marme, F. (Federick), Surovy, H. (Harald), Yang, R. (Rongxi), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Hooning, M.J. (Maartje), Collée, J.M. (Margriet), Martens, J.W.M. (John), Tilanus-Linthorst, M.M.A. (Madeleine), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Lindblom, A. (Annika), Margolin, S. (Sara), Joseph, V. (Vijai), Robson, M. (Mark), Rau-Murthy, R. (Rohini), González-Neira, A. (Anna), Arias Pérez, J.I. (José Ignacio), Zamora, P. (Pilar), Benítez, J. (Javier), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Peterlongo, P. (Paolo), Zaffaroni, D. (D.), Barile, M. (Monica), Capra, F. (Fabio), Radice, P. (Paolo), Teo, S.-H. (Soo-Hwang), Easton, D.F. (Douglas), Antoniou, A.C. (Antonis), Chenevix-Trench, G. (Georgia), Goldgar, D. (David), Spurdle, A.B. (Amanda), Couch, F.J. (Fergus), Parsons, M. (Marilyn), McGuffog, L. (Lesley), Barrowdale, D. (Daniel), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Healey, S. (Sue), Schmutzler, R.K. (Rita), Wapenschmidt, B. (Barbara), Rhiem, K. (Kerstin), Hahnen, E. (Eric), Engel, C. (Christoph), Meindl, A. (Alfons), Ditsch, N. (Nina), Arnold, N. (Norbert), Plendl, H. (Hansjoerg), Niederacher, D. (Dieter), Sutter, C. (Christian), Wang-Gohrke, S. (Shan), Steinemann, D. (Doris), Preisler-Adams, S. (Sabine), Kast, K. (Karin), Varon-Mateeva, R. (Raymonda), Ellis, S.D. (Steve), Frost, D. (Debra), Platte, R. (Radka), Perkins, J. (Jo), Evans, D.G. (Gareth), Izatt, L. (Louise), Eeles, R. (Rosalind), Adlard, L., Davidson, R. (Rosemarie), Cole, T.J. (Trevor), Scuvera, G. (Giulietta), Manoukian, S. (Siranoush), Bonnani, B. (Bernardo), Mariette, F. (F.), Fortuzzi, S. (S.), Viel, A. (Alessandra), Pasini, B. (Barbara), Papi, L. (Laura), Varesco, L. (Liliana), Balleine, R. (Rosemary), Nathanson, K.L. (Katherine), Domchek, S.M. (Susan), Offitt, K. (Kenneth), Jakubowska, A. (Anna), Lindor, N.M. (Noralane), Thomassen, M. (Mads), Jensen, U.B., Rantala, J. (Johanna), Borg, Å. (Åke), Andrulis, I.L. (Irene), Miron, A. (Alexander), Hansen, T.V.O. (Thomas), Caldes, T. (Trinidad), Neuhausen, S.L. (Susan), Toland, A.E. (Amanda), Nevanlinna, H. (Heli), Montagna, M. (Marco), Garber, J. (Judy), Godwin, A.K. (Andrew), Osorio, A. (Ana), Factor, R.E. (Rachel E.), Terry, M.B. (Mary B.), Rebbeck, R. (Timothy), Karlan, B.Y. (Beth), Southey, M.C. (Melissa), Rashid, M.U. (Muhammad), Tung, N. (Nadine), Pharoah, P.D.P. (Paul), Blows, F. (Fiona), Dunning, A.M. (Alison), Provenzano, E. (Elena), Hall, P. (Per), Czene, K. (Kamila), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Cornelissen, S. (Sten), Verhoef, S., Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Ekici, A.B. (Arif), Slamon, D.J. (Dennis), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Chang-Claude, J. (Jenny), Flesch-Janys, D. (Dieter), Rudolph, A. (Anja), Seibold, P. (Petra), Aittomäki, K. (Kristiina), Muranen, T.A. (Taru), Heikkilä, P. (Päivi), Blomqvist, C. (Carl), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Brinton, L.A. (Louise), Lissowska, J. (Jolanta), Olson, J.E. (Janet), Pankratz, V.S. (Shane), John, E.M. (Esther), Whittemore, A.S. (Alice), West, D. van, Hamann, U. (Ute), Torres, D. (Diana), Ulmer, H.U. (Hans), Rud̈iger, T. (Thomas), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Eccles, D. (Diana), Tapper, W. (William), Durcan, L. (Lorraine), Jones, L. (Louise), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Fletcher, O. (Olivia), Johnson, N. (Nichola), Dwek, M. (Miriam), Swann, R. (Ruth), Bane, A.L. (Anita L.), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Giles, G.G. (Graham), Milne, R.L. (Roger), Baglietto, L. (Laura), McLean, C.A. (Catriona Ann), Carpenter, J. (Jane), Clarke, C. (Christine), Scott, R.J. (Rodney), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Ko, Y-D. (Yon-Dschun), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Gronwald, J. (Jacek), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Park-Simon, T.-W., Hillemanns, P. (Peter), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Burwinkel, B. (Barbara), Marme, F. (Federick), Surovy, H. (Harald), Yang, R. (Rongxi), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Hooning, M.J. (Maartje), Collée, J.M. (Margriet), Martens, J.W.M. (John), Tilanus-Linthorst, M.M.A. (Madeleine), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Lindblom, A. (Annika), Margolin, S. (Sara), Joseph, V. (Vijai), Robson, M. (Mark), Rau-Murthy, R. (Rohini), González-Neira, A. (Anna), Arias Pérez, J.I. (José Ignacio), Zamora, P. (Pilar), Benítez, J. (Javier), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Peterlongo, P. (Paolo), Zaffaroni, D. (D.), Barile, M. (Monica), Capra, F. (Fabio), Radice, P. (Paolo), Teo, S.-H. (Soo-Hwang), Easton, D.F. (Douglas), Antoniou, A.C. (Antonis), Chenevix-Trench, G. (Georgia), and Goldgar, D. (David)
Abstract: Introduction: The distribution of histopathological features of invasive breast tumors in BRCA1 or BRCA2 germline mutation carriers differs from that of individuals with no known mutation. Histopathological features thus have utility for mutation prediction, including statistical modeling to assess pathogenicity of BRCA1 or BRCA2 variants of uncertain clinical significance. We analyzed large pathology datasets accrued by the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and the Breast Cancer Association Consortium (BCAC) to reassess histopathological predictors of BRCA1 and BRCA2 mutation status, and provide robust likelihood ratio (LR) estimates for statistical modeling. Methods: Selection criteria for study/center inclusion were estrogen receptor (ER) status or grade data available for invasive breast cancer diagnosed younger than 70 years. The dataset included 4,477 BRCA1 mutation carriers, 2,565 BRCA2 mutation carriers, and 47,565 BCAC breast cancer cases. Country-stratified estimates of the l
Published: 2014
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173. Susceptibility to chronic mucus hypersecretion, a genome wide association study

Author: Dijkstra, A.E. (Akkelies), Smolonska, J. (Joanna), Berge, M. (Maarten) van den, Wijmenga, C. (Ciska), Zanen, P. (Pieter), Luinge, M.A. (Marjan), Platteel, I. (Inge), Lammers, J.-W.J. (Jan-Willem), Dahlback, M. (Magnus), Tosh, K. (Kerrie), Hiemstra, P.S. (Pieter), Sterk, P.J. (Peter), Spira, M.E. (Micha), Vestbo, J. (Jorgen), Nordestgaard, B.G. (Børge), Benn, M. (Marianne), Nielsen, S.F. (Sune), Dahl, M. (Morten), Verschuren, W.M.M. (W. M. Monique), Picavet, H.S.J. (Susan), Smit, H.A. (Henriëtte), Owsijewitsch, M. (Michael), Kauczor, H.U. (Hans), Koning, H.J. (Harry) de, Nizankowska-Mogilnicka, E. (Eva), Mejza, F. (Filip), Nastalek, P. (Pawel), Diemen, C.C. (Cleo) van, Cho, M.H. (Michael), Silverman, E.K. (Edwin), Crapo, R.O. (Robert), Beaty, T.H. (Terri), Lomas, D.J. (David John), Bakke, A.B. (Arnold B.), Gulsvik, A. (Amund), Bossé, Y. (Yohan), Obeidat, M. (Ma'en), Loth, D.W. (Daan), Lahousse, L. (Lies), Rivadeneira Ramirez, F. (Fernando), Uitterlinden, A.G. (André), Hofman, A. (Albert), Stricker, B.H.Ch. (Bruno), Brusselle, G.G. (Guy), Duijn, C.M. (Cornelia) van, Brouwer, U. (Uilke), Koppelman, G.H. (Gerard), Vonk, J.M. (Judith), Nawijn, M.C. (Martijn), Groen, H.J.M. (Henk), Timens, W. (Wim), Boezen, H.M. (Marike), Postma, D.S. (Dirkje), Alizadeh, B.Z. (Behrooz), Boer, R.A. (Rudolf) de, Bruinenberg, M. (M.), Franke, L. (Lude), Harst, P. (Pim) van der, Hillege, H.L. (Hans), Klauw, M.M. (Melanie) van der, Navis, G. (Gerjan), Ormel, J. (Johan), Rosmalen, J.G.M. (Judith), Slaets, J.P.J. (Joris), Snieder, H. (Harold), Stolk, R.P. (Ronald), Wolffenbuttel, B. (Bhr), Dijkstra, A.E. (Akkelies), Smolonska, J. (Joanna), Berge, M. (Maarten) van den, Wijmenga, C. (Ciska), Zanen, P. (Pieter), Luinge, M.A. (Marjan), Platteel, I. (Inge), Lammers, J.-W.J. (Jan-Willem), Dahlback, M. (Magnus), Tosh, K. (Kerrie), Hiemstra, P.S. (Pieter), Sterk, P.J. (Peter), Spira, M.E. (Micha), Vestbo, J. (Jorgen), Nordestgaard, B.G. (Børge), Benn, M. (Marianne), Nielsen, S.F. (Sune), Dahl, M. (Morten), Verschuren, W.M.M. (W. M. Monique), Picavet, H.S.J. (Susan), Smit, H.A. (Henriëtte), Owsijewitsch, M. (Michael), Kauczor, H.U. (Hans), Koning, H.J. (Harry) de, Nizankowska-Mogilnicka, E. (Eva), Mejza, F. (Filip), Nastalek, P. (Pawel), Diemen, C.C. (Cleo) van, Cho, M.H. (Michael), Silverman, E.K. (Edwin), Crapo, R.O. (Robert), Beaty, T.H. (Terri), Lomas, D.J. (David John), Bakke, A.B. (Arnold B.), Gulsvik, A. (Amund), Bossé, Y. (Yohan), Obeidat, M. (Ma'en), Loth, D.W. (Daan), Lahousse, L. (Lies), Rivadeneira Ramirez, F. (Fernando), Uitterlinden, A.G. (André), Hofman, A. (Albert), Stricker, B.H.Ch. (Bruno), Brusselle, G.G. (Guy), Duijn, C.M. (Cornelia) van, Brouwer, U. (Uilke), Koppelman, G.H. (Gerard), Vonk, J.M. (Judith), Nawijn, M.C. (Martijn), Groen, H.J.M. (Henk), Timens, W. (Wim), Boezen, H.M. (Marike), Postma, D.S. (Dirkje), Alizadeh, B.Z. (Behrooz), Boer, R.A. (Rudolf) de, Bruinenberg, M. (M.), Franke, L. (Lude), Harst, P. (Pim) van der, Hillege, H.L. (Hans), Klauw, M.M. (Melanie) van der, Navis, G. (Gerjan), Ormel, J. (Johan), Rosmalen, J.G.M. (Judith), Slaets, J.P.J. (Joris), Snieder, H. (Harold), Stolk, R.P. (Ronald), and Wolffenbuttel, B. (Bhr)
Abstract: Background: Chronic mucus hypersecretion (CMH) is associated with an increased frequency of respiratory infections, excess lung function decline, and increased hospitalisation and mortality rates in the general population. It is associated with smoking, but it is unknown why only a minority of smokers develops CMH. A plausible explanation for this phenomenon is a predisposing genetic constitution. Therefore, we performed a genome wide association (GWA) study of CMH in Caucasian populations. Methods: GWA analysis was performed in the NELSON-study using the Illumina 610 array, followed by replication and meta-analysis in 11 additional cohorts. In total 2,704 subjects with, and 7,624 subjects without CMH were included, all current or former heavy smokers (≥20 pack-years). Additional studies were performed to test the functional relevance of the most significant single nucleotide polymorphism (SNP). Results: A strong association with CMH, consistent across all cohorts, was observed with rs6577641 (p = 4.25x10-6, OR = 1.17), located in intron 9 of the special AT-rich sequence-binding protein 1 locus (SATB1) on chromosome 3. The risk allele (G) was associated with higher mRNA expression of SATB1 (4.3x10 -9) in lung tissue. Presence of CMH was associated with increased SATB1 mRNA expression in bronchial biopsies from COPD patients. SATB1 expression was induced during differentiation of primary human bronchial epithelial cells in culture. Conclusions: Our findings, that SNP rs6577641 is associated with CMH in multiple cohorts and is a cis-eQTL for SATB1, together with our additional observation that SATB1 expression increases during epithelial differentiation provide suggestive evidence that SATB1 is a gene that affects CMH.
Published: 2014
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174. Lipoprotein(a) concentration and the risk of coronary heart disease, stroke, and nonvascular mortality

Author: Tipping, R.W. Ford, C.E. Simpson, L.M. Walldius, G. Jungner, I. Folsom, A.R. Chambless, L. Panagiotakos, D. Pitsavos, C. Chrysohoou, C. Stefanadis, C. Goldbourt, U. Benderly, M. Tanne, D. Whincup, P. Wannamethee, S.G. Morris, R.W. Kiechl, S. Willeit, J. Santer, P. Mayr, A. Wald, N. Ebrahim, S. Lawlor, D. Yarnell, J. Gallacher, J. Casiglia, E. Tikhonoff, V. Nietert, P.J. Sutherland, S.E. Bachman, D.L. Cushman, M. Psaty, B.M. Tracy, R. Tybjærg-Hansen, A. Nordestgaard, B.G. Frikke-Schmidt, R. Kamstrup, P.R. Giampaoli, S. Palmieri, L. Panico, S. Vanuzzo, D. Pilotto, L. De La Cámara, A.G. Gómez Gerique, J.A. Simons, L. McCallum, J. Friedlander, Y. Fowkes, F.G.R. Lee, A. Smith, F.B. Taylor, J. Guralnik, J.M. Phillips, C.L. Wallace, R.B. Blazer, D.G. Brenner, H. Raum, E. Müller, H. Rothenbacher, D. Jansson, J.-H. Wennberg, P. Nissinen, A. Donfrancesco, C. Salomaa, V. Harald, K. Jousilahti, P. Vartiainen, E. Woodward, M. D’Agostino, R.B. Wolf, P.A. Vasan, R.S. Pencina, M.J. Bladbjerg, E.-M. Jørgensen, T. Møller, L. Jespersen, J. Dankner, R. Chetrit, A. Lubin, F. Rosengren, A. Wilhelmsen, L. Lappas, G. Eriksson, H. Björkelund, C. Lissner, L. Bengtsson, C. Cremer, P. Nagel, D. Tilvis, R.S. Strandberg, T.E. Rodriguez, B. Dekker, J. Nijpels, G. Stehouwer, C.D.A. Rimm, E. Pai, J.K. Sato, S. Iso, H. Kitamura, A. Noda, H. Salonen, J.T. Nyyssönen, K. Tuomainen, T.-P. Deeg, D.J.H. Poppelaars, J.L. Hedblad, B. Berglund, G. Engström, G. Verschuren, W.M.M. Blokstra, A. Döring, A. Koenig, W. Meisinger, C. Mraz, W. Bueno-De-Mesquita, H.B. Kuller, L.H. Grandits, G. Selmer, R. Tverdal, A. Nystad, W. Gillum, R.F. Mussolino, M. Hankinson, S. Manson, J.E. Cooper, J.A. Bauer, K.A. Naito, Y. Holme, I. Nakagawa, H. Miura, K. Ducimetiere, P. Jouven, X. Luc, G. Crespo, C.J. Garcia Palmieri, M.R. Amouyel, P. Arveiler, D. Evans, A. Ferrieres, J. Schulte, H. Assmann, G. Shepherd, J. Packard, C.J. Sattar, N. Ford, I. Cantin, B. Lamarche, B. Després, J.-P. Dagenais, G.R. Barrett-Connor, E. Daniels, L.B. Laughlin, G.A. Gudnason, V. Aspelund, T. Sigurdsson, G. Thorsson, B. Trevisan, M. Witteman, J. Kardys, I. Breteler, M.M.B. Hofman, A. Tunstall-Pedoe, H. Tavendale, R. Lowe, G. Ben-Shlomo, Y. Davey-Smith, G. Howard, B.V. Zhang, Y. Best, L. Umans, J. Onat, A. Njølstad, I. Mathiesen, E.B. Løchen, M.-L. Wilsgaard, T. Ingelsson, E. Sundström, J. Lind, L. Lannfelt, L. Gaziano, J.M. Stampfer, M. Ridker, P.M. Ulmer, H. Diem, G. Concin, H. Tosetto, A. Rodeghiero, F. Marmot, M. Clarke, R. Collins, R. Fletcher, A. Brunner, E. Shipley, M. Buring, J. Cobbe, S. Robertson, M. He, Y. Ibañez, A.M. Feskens, E. Kromhout, D. Walker, M. Watson, S. Di Angelantonio, E. Erqou, S. Kaptoge, S. Lewington, S. Orfei, L. Pennells, L. Perry, P.L. Ray, K.K. Sarwar, N. Alexander, M. Thompson, A. Thompson, S.G. Wensley, F. White, I.R. Wood, A.M. Danesh, J.
Abstract: Context Circulating concentration of lipoprotein(a) (Lp[a]), a large glycoprotein attached to a low-density lipoprotein–like particle, may be associated with risk of coronary heart disease (CHD) and stroke. Objective To assess the relationship of Lp(a) concentration with risk of major vascular and nonvascular outcomes. Study Selection Long-term prospective studies that recorded Lp(a) concentration and subsequent major vascular morbidity and/or cause-specific mortality published between January 1970 and March 2009 were identified through electronic searches of MEDLINE and other databases, manual searches of reference lists, and discussion with collaborators. Data Extraction Individual records were provided for each of 126 634 participants in 36 prospective studies. During 1.3 million person-years of follow-up, 22 076 firstever fatal or nonfatal vascular disease outcomes or nonvascular deaths were recorded, including 9336 CHD outcomes, 1903 ischemic strokes, 338 hemorrhagic strokes, 751 unclassified strokes, 1091 other vascular deaths, 8114 nonvascular deaths, and 242 deaths of unknown cause. Within-study regression analyses were adjusted for within-person variation and combined using meta-analysis. Analyses excluded participants with known preexisting CHD or stroke at baseline. Data Synthesis Lipoprotein(a) concentration was weakly correlated with several conventional vascular risk factors and it was highly consistent within individuals over several years. Associations of Lp(a) with CHD risk were broadly continuous in shape. In the 24 cohort studies, the rates of CHD in the top and bottom thirds of baseline Lp(a) distributions, respectively, were 5.6 (95% confidence interval [CI], 5.4-5.9) per 1000 personyears and 4.4 (95% CI, 4.2-4.6) per 1000 person-years. The risk ratio for CHD, adjusted for age and sex only, was 1.16 (95% CI, 1.11-1.22) per 3.5-fold higher usual Lp(a) concentration (ie, per 1 SD), and it was 1.13 (95% CI, 1.09-1.18) following further adjustment for lipids and other conventional risk factors. The corresponding adjusted risk ratios were 1.10 (95% CI, 1.02-1.18) for ischemic stroke, 1.01 (95% CI, 0.98-1.05) for the aggregate of nonvascular mortality, 1.00 (95% CI, 0.97-1.04) for cancer deaths, and 1.00 (95% CI, 0.95-1.06) for nonvascular deaths other than cancer. Conclusion Under a wide range of circumstances, there are continuous, independent, and modest associations of Lp(a) concentration with risk of CHD and stroke that appear exclusive to vascular outcomes. ©2009 American Medical Association. All rights reserved.
Published: 2009

175. Loss-of-Function Mutations in APOC3 and Risk of Ischemic Vascular Disease

Author: Jørgensen, A.B., primary, Frikke-Schmidt, R., additional, and Nordestgaard, B.G., additional
Published: 2014
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176. Importance of non-synonymous genetic variation in wrn on risk of ischemic vascular disease and mortality in the general population

Author: Christoffersen, M., primary, Frikke-Schmidt, R., additional, Nordestgaard, B.G., additional, and Tybjærg-Hansen, A., additional
Published: 2014
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177. Genetically reduced high-density lipoprotein cholesterol and risk of type 2 diabetes: A mendelian randomization study

Author: Haase, C.L., primary, Tybjærg-Hansen, A., additional, Nordestgaard, B.G., additional, and Frikke-Schmidt, R., additional
Published: 2014
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178. Loss-of-function mutations in APOC3 and reduced risk of ischemic vascular disease

Author: Jørgensen, A., primary, Frikke-Schmidt, R., additional, Nordestgaard, B.G., additional, and Tybjærg-Hansen, A., additional
Published: 2014
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179. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: Consensus Statement of the European Atherosclerosis Society

Author: Nordestgaard, B.G., Chapman, M.J., Humphries, S.E., Ginsberg, H.N., Masana, L., Descamps, O.S., Wiklund, O., Hegele, R.A., Raal, F.J., Defesche, J.C., Wiegman, A., Santos, R.D., Watts, G.F., Parhofer, K.G., Hovingh, G.K., Kovanen, P.T., Boileau, C., Averna, M., Boren, J., Bruckert, E., Catapano, A.L., Kuivenhoven, J.A., Pajukanta, P., Ray, K., Stalenhoef, A.F.H., Stroes, E., Taskinen, M.R., Tybjaerg-Hansen, A., Consensus, P. European Athero, Nordestgaard, B.G., Chapman, M.J., Humphries, S.E., Ginsberg, H.N., Masana, L., Descamps, O.S., Wiklund, O., Hegele, R.A., Raal, F.J., Defesche, J.C., Wiegman, A., Santos, R.D., Watts, G.F., Parhofer, K.G., Hovingh, G.K., Kovanen, P.T., Boileau, C., Averna, M., Boren, J., Bruckert, E., Catapano, A.L., Kuivenhoven, J.A., Pajukanta, P., Ray, K., Stalenhoef, A.F.H., Stroes, E., Taskinen, M.R., Tybjaerg-Hansen, A., and Consensus, P. European Athero
Abstract: Item does not contain fulltext, AIMS: The first aim was to critically evaluate the extent to which familial hypercholesterolaemia (FH) is underdiagnosed and undertreated. The second aim was to provide guidance for screening and treatment of FH, in order to prevent coronary heart disease (CHD). METHODS AND RESULTS: Of the theoretical estimated prevalence of 1/500 for heterozygous FH, <1% are diagnosed in most countries. Recently, direct screening in a Northern European general population diagnosed approximately 1/200 with heterozygous FH. All reported studies document failure to achieve recommended LDL cholesterol targets in a large proportion of individuals with FH, and up to 13-fold increased risk of CHD. Based on prevalences between 1/500 and 1/200, between 14 and 34 million individuals worldwide have FH. We recommend that children, adults, and families should be screened for FH if a person or family member presents with FH, a plasma cholesterol level in an adult >/=8 mmol/L(>/=310 mg/dL) or a child >/=6 mmol/L(>/=230 mg/dL), premature CHD, tendon xanthomas, or sudden premature cardiac death. In FH, low-density lipoprotein cholesterol targets are <3.5 mmol/L(<135 mg/dL) for children, <2.5 mmol/L(<100 mg/dL) for adults, and <1.8 mmol/L(<70 mg/dL) for adults with known CHD or diabetes. In addition to lifestyle and dietary counselling, treatment priorities are (i) in children, statins, ezetimibe, and bile acid binding resins, and (ii) in adults, maximal potent statin dose, ezetimibe, and bile acid binding resins. Lipoprotein apheresis can be offered in homozygotes and in treatment-resistant heterozygotes with CHD. CONCLUSION: Owing to severe underdiagnosis and undertreatment of FH, there is an urgent worldwide need for diagnostic screening together with early and aggressive treatment of this extremely high-risk condition.
Published: 2013

180. Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors

Author: Nickels, S., Truong, T., Hein, R., Stevens, K., Buck, K., Behrens, S., Eilber, U., Schmidt, M., Haberle, L., Vrieling, A., Gaudet, M., Figueroa, J., Schoof, N., Spurdle, A.B., Rudolph, A., Fasching, P.A., Hopper, J.L., Makalic, E., Schmidt, D.F., Southey, M.C., Beckmann, M.W., Ekici, A.B., Fletcher, O., Gibson, L., Idos, S. Silva, Peto, J., Humphreys, M.K., Wang, J, Cordina-Duverger, E., Menegaux, F., Nordestgaard, B.G., Bojesen, S.E., Lanng, C., Anton-Culver, H., Ziogas, A., Bernstein, L., Clarke, C.A., Brenner, H., Muller, H., Arndt, V., Stegmaier, C., Brauch, H., Bruning, T., Harth, V., Genica, N., Mannermaa, A., Kataja, V., Kosma, V.M., Hartikainen, J.M., Lambrechts, D., Smeets, D., Neven, P., Paridaens, R., Flesch-Janys, D., Obi, N., Wang-Gohrke, S., Couch, F.J., Olson, J.E., Vachon, C.M., Giles, G.G., Severi, G., Baglietto, L., Offit, K., John, E.M., Miron, A., Andrulis, I.L., Knight, J.A., Glendon, G., Mulligan, A.M., Chanock, S.J., Lissowska, J., Liu, J., Cox, A, Cramp, H., Connley, D., Balasubramanian, S., Dunning, A.M., Shah, M., Trentham-Dietz, A., Newcomb, P., Titus, L., Egan, K., Cahoon, E.K., Rajaraman, P., Sigurdson, A.J., Doody, M.M., Guenel, P., Pharoah, P.D., Schmidt, M.K., Hall, P., Easton, D.F., Garcia-Closas, M., Milne, R.L., Chang-Claude, J., et al., Nickels, S., Truong, T., Hein, R., Stevens, K., Buck, K., Behrens, S., Eilber, U., Schmidt, M., Haberle, L., Vrieling, A., Gaudet, M., Figueroa, J., Schoof, N., Spurdle, A.B., Rudolph, A., Fasching, P.A., Hopper, J.L., Makalic, E., Schmidt, D.F., Southey, M.C., Beckmann, M.W., Ekici, A.B., Fletcher, O., Gibson, L., Idos, S. Silva, Peto, J., Humphreys, M.K., Wang, J, Cordina-Duverger, E., Menegaux, F., Nordestgaard, B.G., Bojesen, S.E., Lanng, C., Anton-Culver, H., Ziogas, A., Bernstein, L., Clarke, C.A., Brenner, H., Muller, H., Arndt, V., Stegmaier, C., Brauch, H., Bruning, T., Harth, V., Genica, N., Mannermaa, A., Kataja, V., Kosma, V.M., Hartikainen, J.M., Lambrechts, D., Smeets, D., Neven, P., Paridaens, R., Flesch-Janys, D., Obi, N., Wang-Gohrke, S., Couch, F.J., Olson, J.E., Vachon, C.M., Giles, G.G., Severi, G., Baglietto, L., Offit, K., John, E.M., Miron, A., Andrulis, I.L., Knight, J.A., Glendon, G., Mulligan, A.M., Chanock, S.J., Lissowska, J., Liu, J., Cox, A, Cramp, H., Connley, D., Balasubramanian, S., Dunning, A.M., Shah, M., Trentham-Dietz, A., Newcomb, P., Titus, L., Egan, K., Cahoon, E.K., Rajaraman, P., Sigurdson, A.J., Doody, M.M., Guenel, P., Pharoah, P.D., Schmidt, M.K., Hall, P., Easton, D.F., Garcia-Closas, M., Milne, R.L., Chang-Claude, J., and et al.
Abstract: Contains fulltext : 118401.pdf (publisher's version ) (Open Access), Various common genetic susceptibility loci have been identified for breast cancer; however, it is unclear how they combine with lifestyle/environmental risk factors to influence risk. We undertook an international collaborative study to assess gene-environment interaction for risk of breast cancer. Data from 24 studies of the Breast Cancer Association Consortium were pooled. Using up to 34,793 invasive breast cancers and 41,099 controls, we examined whether the relative risks associated with 23 single nucleotide polymorphisms were modified by 10 established environmental risk factors (age at menarche, parity, breastfeeding, body mass index, height, oral contraceptive use, menopausal hormone therapy use, alcohol consumption, cigarette smoking, physical activity) in women of European ancestry. We used logistic regression models stratified by study and adjusted for age and performed likelihood ratio tests to assess gene-environment interactions. All statistical tests were two-sided. We replicated previously reported potential interactions between LSP1-rs3817198 and parity (Pinteraction = 2.4 x 10(-6)) and between CASP8-rs17468277 and alcohol consumption (Pinteraction = 3.1 x 10(-4)). Overall, the per-allele odds ratio (95% confidence interval) for LSP1-rs3817198 was 1.08 (1.01-1.16) in nulliparous women and ranged from 1.03 (0.96-1.10) in parous women with one birth to 1.26 (1.16-1.37) in women with at least four births. For CASP8-rs17468277, the per-allele OR was 0.91 (0.85-0.98) in those with an alcohol intake of <20 g/day and 1.45 (1.14-1.85) in those who drank >/= 20 g/day. Additionally, interaction was found between 1p11.2-rs11249433 and ever being parous (Pinteraction = 5.3 x 10(-5)), with a per-allele OR of 1.14 (1.11-1.17) in parous women and 0.98 (0.92-1.05) in nulliparous women. These data provide first strong evidence that the risk of breast cancer associated with some common genetic variants may vary with environmental risk factors.
Published: 2013

181. Homocysteine and coronary heart disease: meta-analysis of MTHFR case-control studies, avoiding publication bias

Author: Clarke, R., Bennett, D.A., Parish, S., Verhoef, P., Dotsch-Klerk, M., Lathrop, M., Xu, P., Nordestgaard, B.G., Holm, H., Hopewell, J.C., Saleheen, D., Tanaka, T., Anand, S.S., Chambers, J.C., Kleber, M.E., Ouwehand, W.H., Yamada, Y., Elbers, C.C., Peters, B., Stewart, A.F., Reilly, M.M., Thorand, B., Yusuf, S., Engert, J.C., Assimes, T.L., Kooner, J., Danesh, J., Watkins, H., Samani, N.J., Collins, R., Peto, R., Kluijtmans, L.A.J., et al., Clarke, R., Bennett, D.A., Parish, S., Verhoef, P., Dotsch-Klerk, M., Lathrop, M., Xu, P., Nordestgaard, B.G., Holm, H., Hopewell, J.C., Saleheen, D., Tanaka, T., Anand, S.S., Chambers, J.C., Kleber, M.E., Ouwehand, W.H., Yamada, Y., Elbers, C.C., Peters, B., Stewart, A.F., Reilly, M.M., Thorand, B., Yusuf, S., Engert, J.C., Assimes, T.L., Kooner, J., Danesh, J., Watkins, H., Samani, N.J., Collins, R., Peto, R., Kluijtmans, L.A.J., and et al.
Abstract: Contains fulltext : 108137.pdf (publisher's version ) (Open Access), BACKGROUND: Moderately elevated blood levels of homocysteine are weakly correlated with coronary heart disease (CHD) risk, but causality remains uncertain. When folate levels are low, the TT genotype of the common C677T polymorphism (rs1801133) of the methylene tetrahydrofolate reductase gene (MTHFR) appreciably increases homocysteine levels, so "Mendelian randomization" studies using this variant as an instrumental variable could help test causality. METHODS AND FINDINGS: Nineteen unpublished datasets were obtained (total 48,175 CHD cases and 67,961 controls) in which multiple genetic variants had been measured, including MTHFR C677T. These datasets did not include measurements of blood homocysteine, but homocysteine levels would be expected to be about 20% higher with TT than with CC genotype in the populations studied. In meta-analyses of these unpublished datasets, the case-control CHD odds ratio (OR) and 95% CI comparing TT versus CC homozygotes was 1.02 (0.98-1.07; p = 0.28) overall, and 1.01 (0.95-1.07) in unsupplemented low-folate populations. By contrast, in a slightly updated meta-analysis of the 86 published studies (28,617 CHD cases and 41,857 controls), the OR was 1.15 (1.09-1.21), significantly discrepant (p = 0.001) with the OR in the unpublished datasets. Within the meta-analysis of published studies, the OR was 1.12 (1.04-1.21) in the 14 larger studies (those with variance of log OR<0.05; total 13,119 cases) and 1.18 (1.09-1.28) in the 72 smaller ones (total 15,498 cases). CONCLUSIONS: The CI for the overall result from large unpublished datasets shows lifelong moderate homocysteine elevation has little or no effect on CHD. The discrepant overall result from previously published studies reflects publication bias or methodological problems.
Published: 2012

182. 9q31.2-rs865686 as a susceptibility locus for estrogen receptor-positive breast cancer: Evidence from the Breast Cancer Association Consortium

Author: Warren, H. (Helen), Dudbridge, F. (Frank), Fletcher, O. (Olivia), Orr, N. (Nick), Johnson, N. (Nichola), Hopper, J.L. (John), Apicella, C. (Carmel), Southey, M.C. (Melissa), Mahmoodi, M. (Maryam), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Cornelissen, S. (Sten), Braaf, L.M. (Linde), Muir, K.R. (Kenneth), Lophatananon, A. (Artitaya), Chaiwerawattana, A. (Arkom), Wiangnon, S. (Surapon), Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Ekici, A.B. (Arif), Schulz-Wendtland, R. (Rüdiger), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Burwinkel, B. (Barbara), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Guénel, P. (Pascal), Truong, T. (Thérèse), Laurent-Puig, P. (Pierre), Mulot, C. (Claire), Bojesen, S.E. (Stig), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Nordestgaard, B.G. (Børge), Milne, R.L. (Roger), Benítez, J. (Javier), Arias Pérez, J.I. (José Ignacio), Zamora, M.P. (Pilar), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Bernstein, L. (Leslie), Dur, C.C. (Christina Clarke), Brenner, H. (Hermann), Müller, H. (Heike), Arndt, V. (Volker), Langheinz, A. (Anne), Meindl, A. (Alfons), Golatta, M. (Michael), Bartram, C.R. (Claus), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Justenhoven, C. (Christina), Brüning, T. (Thomas), Chang-Claude, J. (Jenny), Wang-Gohrke, S. (Shan), Eilber, U. (Ursula), Dörk, T. (Thilo), Schürmann, P. (Peter), Bremer, M. (Michael), Hillemanns, P. (Peter), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia), Rogov, Y.I. (Yuri), Bermisheva, M. (Marina), Prokofyeva, D. (Darya), Zinnatullina, G. (Guzel), Khusnutdinova, E.K. (Elza), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Kataja, V. (Vesa), Chenevix-Trench, G. (Georgia), Beesley, J. (Jonathan), Chen, X. (Xiaoqing), Lambrechts, D. (Diether), Smeets, A. (Ann), Paridaens, R. (Robert), Weltens, C. (Caroline), Flesch-Janys, D. (Dieter), Buck, K. (Katharina), Behrens, T.W. (Timothy), Peterlongo, P. (Paolo), Bernard, L. (Loris), Manoukian, S. (Siranoush), Radice, P. (Paolo), Couch, F.J. (Fergus), Vachon, C. (Celine), Wang, X. (Xing), Olson, J.E. (Janet), Giles, G.G. (Graham), Baglietto, L. (Laura), McLean, C.A. (Cariona), Severi, G. (Gianluca), John, E.M. (Esther), Miron, A. (Alexander), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Mulligan, A.M. (Anna Marie), Weerasooriya, N. (Nayana), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Martens, J.W.M. (John), Seynaeve, C.M. (Caroline), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Jager, A. (Agnes), Tilanus-Linthorst, M.M.A. (Madeleine), Hall, P. (Per), Czene, K. (Kamila), Liu, J. (Jianjun), Li, J. (Jingmei), Cox, A. (Angela), Cross, S.S. (Simon), Brock, I.W. (Ian), Reed, M.W.R. (Malcolm), Pharoah, P.D.P. (Paul), Blows, F. (Fiona), Dunning, A.M. (Alison), Ghoussaini, M. (Maya), Ashworth, A. (Alan), Swerdlow, A.J. (Anthony ), Jones, M. (Marta), Schoemaker, M. (Minouk), Easton, D.F. (Douglas), Humphreys, M.K. (Manjeet), Wang, Q. (Qing), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Warren, H. (Helen), Dudbridge, F. (Frank), Fletcher, O. (Olivia), Orr, N. (Nick), Johnson, N. (Nichola), Hopper, J.L. (John), Apicella, C. (Carmel), Southey, M.C. (Melissa), Mahmoodi, M. (Maryam), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Cornelissen, S. (Sten), Braaf, L.M. (Linde), Muir, K.R. (Kenneth), Lophatananon, A. (Artitaya), Chaiwerawattana, A. (Arkom), Wiangnon, S. (Surapon), Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Ekici, A.B. (Arif), Schulz-Wendtland, R. (Rüdiger), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Burwinkel, B. (Barbara), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Guénel, P. (Pascal), Truong, T. (Thérèse), Laurent-Puig, P. (Pierre), Mulot, C. (Claire), Bojesen, S.E. (Stig), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Nordestgaard, B.G. (Børge), Milne, R.L. (Roger), Benítez, J. (Javier), Arias Pérez, J.I. (José Ignacio), Zamora, M.P. (Pilar), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Bernstein, L. (Leslie), Dur, C.C. (Christina Clarke), Brenner, H. (Hermann), Müller, H. (Heike), Arndt, V. (Volker), Langheinz, A. (Anne), Meindl, A. (Alfons), Golatta, M. (Michael), Bartram, C.R. (Claus), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Justenhoven, C. (Christina), Brüning, T. (Thomas), Chang-Claude, J. (Jenny), Wang-Gohrke, S. (Shan), Eilber, U. (Ursula), Dörk, T. (Thilo), Schürmann, P. (Peter), Bremer, M. (Michael), Hillemanns, P. (Peter), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia), Rogov, Y.I. (Yuri), Bermisheva, M. (Marina), Prokofyeva, D. (Darya), Zinnatullina, G. (Guzel), Khusnutdinova, E.K. (Elza), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Kataja, V. (Vesa), Chenevix-Trench, G. (Georgia), Beesley, J. (Jonathan), Chen, X. (Xiaoqing), Lambrechts, D. (Diether), Smeets, A. (Ann), Paridaens, R. (Robert), Weltens, C. (Caroline), Flesch-Janys, D. (Dieter), Buck, K. (Katharina), Behrens, T.W. (Timothy), Peterlongo, P. (Paolo), Bernard, L. (Loris), Manoukian, S. (Siranoush), Radice, P. (Paolo), Couch, F.J. (Fergus), Vachon, C. (Celine), Wang, X. (Xing), Olson, J.E. (Janet), Giles, G.G. (Graham), Baglietto, L. (Laura), McLean, C.A. (Cariona), Severi, G. (Gianluca), John, E.M. (Esther), Miron, A. (Alexander), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Mulligan, A.M. (Anna Marie), Weerasooriya, N. (Nayana), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Martens, J.W.M. (John), Seynaeve, C.M. (Caroline), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Jager, A. (Agnes), Tilanus-Linthorst, M.M.A. (Madeleine), Hall, P. (Per), Czene, K. (Kamila), Liu, J. (Jianjun), Li, J. (Jingmei), Cox, A. (Angela), Cross, S.S. (Simon), Brock, I.W. (Ian), Reed, M.W.R. (Malcolm), Pharoah, P.D.P. (Paul), Blows, F. (Fiona), Dunning, A.M. (Alison), Ghoussaini, M. (Maya), Ashworth, A. (Alan), Swerdlow, A.J. (Anthony ), Jones, M. (Marta), Schoemaker, M. (Minouk), Easton, D.F. (Douglas), Humphreys, M.K. (Manjeet), Wang, Q. (Qing), Peto, J. (Julian), and Santos Silva, I. (Isabel) dos
Abstract: Background: Our recent genome-wide association study identified a novel breast cancer susceptibility locus at 9q31.2 (rs865686). Methods: To further investigate the rs865686-breast cancer association, we conducted a replication study within the Breast Cancer Association Consortium, which comprises 37 case-control studies (48,394 cases, 50,836 controls). Results: This replication study provides additional strong evidence of an inverse association between rs865686 and breast cancer risk [study-adjusted per G-allele OR, 0.90; 95% confidence interval (CI), 0.88; 0.91, P =2.01 × 10-29] among women of European ancestry. There were ethnic differences in the estimated minor (G)-allele frequency among controls [0.09, 0.30, and 0.38 among, respectively, Asians, Eastern Europeans, and other Europeans; P for heterogeneity (Phet) = 1.3 × 10-143], but no evidence of ethnic differences in per allele OR (Phet = 0.43). rs865686 was associated with estrogen receptor-positive (ER+) disease (per G-allele OR, 0.89; 95% CI, 0.86-0.91; P = 3.13 × 10-22) but less strongly, if at all, with ER-negative (ER+) disease (OR, 0.98; 95% CI, 0.94-1.02; P = 0.26; Phet = 1.16 × 10-6), with no evidence of independent heterogeneity by progesterone receptor or HER2 status. The strength of the breast cancer association decreased with increasing age at diagnosis, with case-only analysis showing a trend in the number of copies of theG
Published: 2012
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183. Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE Collaboration): A meta-analysis of genome-wide association studies

Author: Traylor, M. (Matthew), Farrall, M. (Martin), Holliday, E.G. (Elizabeth), Sudlow, C. (Cathie), Hopewell, J., Cheng, Y.-C. (Yu-Ching), Fornage, M. (Myriam), Ikram, M.A. (Arfan), Malik, R. (Rainer), Bevan, S. (Steve), Thorsteinsdottir, U. (Unnur), Nalls, M.A. (Michael), Longstreth Jr, W.T., Wiggins, K.L. (Kerri), Yadav, S. (Sunaina), Parati, E.A. (Eugenio), DeStefano, A.L. (Anita), Worrall, B.B. (Bradford B.), Kittner, T. (Thomas), Khan, M.I. (Muhammad), Reiner, A. (Alexander), Helgadottir, H.T. (Hafdis), Achterberg, S. (Sefanja), Fernandez-Cadenas, I. (Israel), Abboud, S. (Shimon), Schmidt, R. (Reinhold), Walters, M.R. (Matthew), Chen, W-M., Ringelstein, E.B. (E. Bernd), O'Donnell, M. (Martin), Ho, W.K. (Weang Kee), Pera, M.F. (Martin ), Lemmens, R. (Robin), Norrving, B. (Bo), Higgins, P. (Peter), Benn, M. (Marianne), Sale, P. (Patrizio), Kuhlenbäumer, G. (Gregor), Doney, A.S.F. (Alex), Vicente, A.M. (Astrid M), Delavaran, H. (Hossein), Algra, A. (Ale), Davies, G. (Gail), Oliveira, S.A. (Sofia), Palmer, C.N.A. (Colin), Deary, I.J. (Ian), Pandolfo, M. (Massimo), Montaner, J. (Joan), Carty, C. (Cara), Bakker, P.I.W. (Paul) de, Kostulas, K. (Konstantinos), Ferro, M.T. (María), Zuydam, N.R. (Natalie) van, Valdimarsson, E. (Einar), Nordestgaard, B.G. (Børge), Lindgren, A. (Arne), Thijs, V. (Vincent), Slowik, A. (Agnieszka), Saleheen, D., Paré, G. (Guillaume), Berger, K. (Klaus), Thorleifsson, G. (Gudmar), Hofman, A. (Albert), Mosley, T.H. (Thomas), Mitchell, B.D. (Braxton), Furie, K.L. (Karen), Clarke, R. (Robert), Levi, C. (Christopher), Seshadri, S. (Sudha), Gschwendtner, A. (Andreas), Boncoraglio, G. (Giorgio Battista), Sharma, P. (Pankaj), Bis, J.C. (Joshua), Gretarsdottir, S. (Solveig), Psaty, B.M. (Bruce), Rothwell, P.M. (Peter), Rosand, J. (Jonathan), Meschia, J.F. (James F.), Zwart, J-A. (John-Anker), Kubisch, C. (Christian), Markus, H.S. (Hugh), Traylor, M. (Matthew), Farrall, M. (Martin), Holliday, E.G. (Elizabeth), Sudlow, C. (Cathie), Hopewell, J., Cheng, Y.-C. (Yu-Ching), Fornage, M. (Myriam), Ikram, M.A. (Arfan), Malik, R. (Rainer), Bevan, S. (Steve), Thorsteinsdottir, U. (Unnur), Nalls, M.A. (Michael), Longstreth Jr, W.T., Wiggins, K.L. (Kerri), Yadav, S. (Sunaina), Parati, E.A. (Eugenio), DeStefano, A.L. (Anita), Worrall, B.B. (Bradford B.), Kittner, T. (Thomas), Khan, M.I. (Muhammad), Reiner, A. (Alexander), Helgadottir, H.T. (Hafdis), Achterberg, S. (Sefanja), Fernandez-Cadenas, I. (Israel), Abboud, S. (Shimon), Schmidt, R. (Reinhold), Walters, M.R. (Matthew), Chen, W-M., Ringelstein, E.B. (E. Bernd), O'Donnell, M. (Martin), Ho, W.K. (Weang Kee), Pera, M.F. (Martin ), Lemmens, R. (Robin), Norrving, B. (Bo), Higgins, P. (Peter), Benn, M. (Marianne), Sale, P. (Patrizio), Kuhlenbäumer, G. (Gregor), Doney, A.S.F. (Alex), Vicente, A.M. (Astrid M), Delavaran, H. (Hossein), Algra, A. (Ale), Davies, G. (Gail), Oliveira, S.A. (Sofia), Palmer, C.N.A. (Colin), Deary, I.J. (Ian), Pandolfo, M. (Massimo), Montaner, J. (Joan), Carty, C. (Cara), Bakker, P.I.W. (Paul) de, Kostulas, K. (Konstantinos), Ferro, M.T. (María), Zuydam, N.R. (Natalie) van, Valdimarsson, E. (Einar), Nordestgaard, B.G. (Børge), Lindgren, A. (Arne), Thijs, V. (Vincent), Slowik, A. (Agnieszka), Saleheen, D., Paré, G. (Guillaume), Berger, K. (Klaus), Thorleifsson, G. (Gudmar), Hofman, A. (Albert), Mosley, T.H. (Thomas), Mitchell, B.D. (Braxton), Furie, K.L. (Karen), Clarke, R. (Robert), Levi, C. (Christopher), Seshadri, S. (Sudha), Gschwendtner, A. (Andreas), Boncoraglio, G. (Giorgio Battista), Sharma, P. (Pankaj), Bis, J.C. (Joshua), Gretarsdottir, S. (Solveig), Psaty, B.M. (Bruce), Rothwell, P.M. (Peter), Rosand, J. (Jonathan), Meschia, J.F. (James F.), Zwart, J-A. (John-Anker), Kubisch, C. (Christian), and Markus, H.S. (Hugh)
Abstract: Background: Various genome-wide association studies (GWAS) have been done in ischaemic stroke, identifying a few loci associated with the disease, but sample sizes have been 3500 cases or less. We established the METASTROKE collaboration with the aim of validating associations from previous GWAS and identifying novel genetic associations through meta-analysis of GWAS datasets for ischaemic stroke and its subtypes. Methods: We meta-analysed data from 15 ischaemic stroke cohorts with a total of 12 389 individuals with ischaemic stroke and 62 004 controls, all of European ancestry. For the associations reaching genome-wide significance in METASTROKE, we did a further analysis, conditioning on the lead single nucleotide polymorphism in every associated region. Replication of novel suggestive signals was done in 13 347 cases and 29 083 controls. Findings: We verified previous associations for cardioembolic stroke near PITX2 (p=2·8×10-16) and ZFHX3 (p=2·28×10-8), and for large-vessel stroke at a 9p21 locus (p=3·32×10-5) and HDAC9 (p=2·03×10-12). Additionally, we verified that all associations were subtype specific. Conditional analysis in the three regions for which the associations reached genome-wide significance (PITX2, ZFHX3, and HDAC9) indicated that all the signal in each region could be attributed to one risk haplotype. We also identified 12 potentially novel loci at p<5×10-6. However, we were unable to replicate any of these novel associations in the replication cohort. Interpretation: Our results show that, although genetic variants can be detected in patients with ischaemic stroke when compared with controls, all associations we were able to confirm are specific to a stroke subtype. This finding has two implications. First, to maximise success of genetic studies in ischaemic stroke, detailed stroke subtyping is required. Second, different genetic pathophysiological mechanisms seem to be associated with different stroke subtypes. Funding: Wellcome Trust, UK Medic
Published: 2012
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184. CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer

Author: Weischer, M. (Maren), Nordestgaard, B.G. (Børge), Pharoah, P.D.P. (Paul), Bolla, M.K. (Manjeet), Nevanlinna, H. (Heli), Veer, L.J. (Laura) van 't, García-Closas, M. (Montserrat), Hopper, J.L. (John), Hall, P. (Per), Andrulis, I.L. (Irene), Devilee, P. (Peter), Fasching, P.A. (Peter), Anton-Culver, H. (Hoda), Lambrechts, D. (Diether), Hooning, M.J. (Maartje), Cox, A. (Angela), Giles, G.G. (Graham), Burwinkel, B. (Barbara), Lindblom, A. (Annika), Couch, F.J. (Fergus), Mannermaa, A. (Arto), Alnæs, G.G. (Grethe), John, E.M. (Esther), Dörk, T. (Thilo), Flyger, H. (Henrik), Dunning, A.M. (Alison), Wang, Q. (Qing), Muranen, T.A. (Taru), Hien, R.R. (Richard) van, Figueroa, J.D. (Jonine), Southey, M.C. (Melissa), Czene, K. (Kamila), Knight, J.A. (Julia), Tollenaar, R.A.E.M. (Rob), Beckmann, M.W. (Matthias), Ziogas, A. (Argyrios), Christiaens, M.R. (Marie Rose), Collée, J.M. (Margriet), Reed, M.W.R. (Malcolm), Severi, G. (Gianluca), Marme, F. (Federick), Margolin, S. (Sara), Olson, J.E. (Janet), Kosma, V-M. (Veli-Matti), Kristensen, V. (Vessela), Miron, A. (Alexander), Bogdanova, N.V. (Natalia), Shah, M. (Mitul), Blomqvist, C. (Carl), Broeks, A. (Annegien), Sherman, M.E. (Mark), Phillips, K. (Kelly), Li, J. (Jingmei), Liu, J. (Jianjun), Glendon, G. (Gord), Seynaeve, C.M. (Caroline), Ekici, A.B. (Arif), Leunen, K., Kriege, M. (Mieke), Cross, S.S. (Simon), Baglietto, L. (Laura), Sohn, C. (Christof), Wang, X. (Xing), Kataja, V. (Vesa), Børresen-Dale, A.L. (Anne Lise), Meyer, A. (Andreas), Easton, D.F. (Douglas), Schmidt, M.K. (Marjanka), Bojesen, S.E. (Stig), Weischer, M. (Maren), Nordestgaard, B.G. (Børge), Pharoah, P.D.P. (Paul), Bolla, M.K. (Manjeet), Nevanlinna, H. (Heli), Veer, L.J. (Laura) van 't, García-Closas, M. (Montserrat), Hopper, J.L. (John), Hall, P. (Per), Andrulis, I.L. (Irene), Devilee, P. (Peter), Fasching, P.A. (Peter), Anton-Culver, H. (Hoda), Lambrechts, D. (Diether), Hooning, M.J. (Maartje), Cox, A. (Angela), Giles, G.G. (Graham), Burwinkel, B. (Barbara), Lindblom, A. (Annika), Couch, F.J. (Fergus), Mannermaa, A. (Arto), Alnæs, G.G. (Grethe), John, E.M. (Esther), Dörk, T. (Thilo), Flyger, H. (Henrik), Dunning, A.M. (Alison), Wang, Q. (Qing), Muranen, T.A. (Taru), Hien, R.R. (Richard) van, Figueroa, J.D. (Jonine), Southey, M.C. (Melissa), Czene, K. (Kamila), Knight, J.A. (Julia), Tollenaar, R.A.E.M. (Rob), Beckmann, M.W. (Matthias), Ziogas, A. (Argyrios), Christiaens, M.R. (Marie Rose), Collée, J.M. (Margriet), Reed, M.W.R. (Malcolm), Severi, G. (Gianluca), Marme, F. (Federick), Margolin, S. (Sara), Olson, J.E. (Janet), Kosma, V-M. (Veli-Matti), Kristensen, V. (Vessela), Miron, A. (Alexander), Bogdanova, N.V. (Natalia), Shah, M. (Mitul), Blomqvist, C. (Carl), Broeks, A. (Annegien), Sherman, M.E. (Mark), Phillips, K. (Kelly), Li, J. (Jingmei), Liu, J. (Jianjun), Glendon, G. (Gord), Seynaeve, C.M. (Caroline), Ekici, A.B. (Arif), Leunen, K., Kriege, M. (Mieke), Cross, S.S. (Simon), Baglietto, L. (Laura), Sohn, C. (Christof), Wang, X. (Xing), Kataja, V. (Vesa), Børresen-Dale, A.L. (Anne Lise), Meyer, A. (Andreas), Easton, D.F. (Douglas), Schmidt, M.K. (Marjanka), and Bojesen, S.E. (Stig)
Abstract: Purpose: We tested the hypotheses that CHEK2*1100delC heterozygosity is associated with increased risk of early death, breast cancer-specific death, and risk of a second breast cancer in women with a first breast cancer. Patients and Methods: From 22 studies participating in the Breast Cancer Association Consortium, 25,571 white women with invasive breast cancer were genotyped for CHEK2*1100delC and observed for up to 20 years (median, 6.6 years). We examined risk of early death and breast cancer-specific death by estrogen receptor status and risk of a second breast cancer after a first breast cancer in prospective studies. Results: CHEK2*1100delC heterozygosity was found in 459 patients (1.8%). In women with estrogen receptor-positive breast cancer, m
Published: 2012
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185. 19p13.1 Is a triple-negative-specific breast cancer susceptibility locus

Author: Stevens, K. (Kristen), Fredericksen, Z. (Zachary), Vachon, C. (Celine), Wang, X. (Xing), Margolin, S. (Sara), Lindblom, A. (Annika), Nevanlinna, H. (Heli), Greco, D. (Dario), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Chang-Claude, J. (Jenny), Vrieling, A. (Alina), Flesch-Janys, D. (Dieter), Sinn, H.-P. (Hans-Peter), Wang-Gohrke, S. (Shan), Nickels, S. (Stefan), Brauch, H. (Hiltrud), Ko, Y-D. (Yon-Dschun), Fischer, H.-P., Schmutzler, R.K. (Rita), Meindl, A. (Alfons), Bartram, C.R. (Claus), Schott, S. (Sarah), Engel, C. (Christoph), Godwin, A.K. (Andrew), Weaver, J. (JoEllen), Pathak, S.S., Sharma, P. (Pankaj), Brenner, H. (Hermann), Müller, H. (Heiko), Arndt, V. (Volker), Stegmaier, C. (Christa), Miron, P. (Penelope), Yannoukakos, D. (Drakoulis), Stavropoulou, A. (Alexandra), Fountzilas, G. (George), Gogas, H. (Helen), Swann, R. (Ruth), Dwek, M. (Miriam), Perkins, A. (Annie), Milne, R.L. (Roger), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Bojesen, S.E. (Stig), Nielsen, S.F. (Sune), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Cordina-Duverger, E. (Emilie), Burwinkel, B. (Barbara), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Peto, J. (Julian), Johnson, N. (Nichola), Fletcher, O. (Olivia), Santos Silva, I. (Isabel) dos, Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Hartmann, A. (Arndt), Ekici, A.B. (Arif), Lophatananon, A. (Artitaya), Muir, K.R. (Kenneth), Puttawibul, P. (Puttisak), Wiangnon, S. (Surapon), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Braaf, L.M. (Linde), Rosenberg, E.H. (Efraim), Hopper, J.L. (John), Apicella, C. (Carmel), Park, D.J. (Daniel), Southey, M.C. (Melissa), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Nicholas, O. (Orr), Schoemaker, M. (Minouk), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Bernstein, L. (Leslie), Dur, C.C. (Christina Clarke), Shen, C-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Hsu, H.-M. (Huan-Ming), Hsiung, C.-N. (Chia-Ni), Hamann, U. (Ute), Dünnebier, T. (Thomas), Rud̈iger, T. (Thomas), Ulmer, H.U. (Hans), Pharoah, P.D.P. (Paul), Dunning, A.M. (Alison), Humphreys, M.K. (Manjeet), Wang, Q. (Qing), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Hall, P. (Per), Czene, K. (Kamila), Ambrosone, C.B. (Christine), Ademuyiwa, F. (Foluso), Hwang, H. (Helena), Eccles, D. (Diana), García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Sherman, M.E. (Mark), Lissowska, J. (Jolanta), Devilee, P. (Peter), Seynaeve, C.M. (Caroline), Tollenaar, R.A.E.M. (Rob), Hooning, M.J. (Maartje), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), John, E.M. (Esther), Miron, A. (Alexander), Alnæs, G.G. (Grethe), Kristensen, V. (Vessela), Brøresen-Dale, A.-L. (Anne-Lise), Giles, G.G. (Graham), Baglietto, L. (Laura), McLean, C.A. (Catriona Ann), Severi, G. (Gianluca), Kosel, M. (Matthew), Pankratz, V.S. (Shane), Slager, S. (Susan), Olson, J.E. (Janet), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Barile, M. (Monica), Lambrechts, D. (Diether), Hatse, S. (Sigrid), Dieudonné, A.-S. (Anne-Sophie), Christiaens, M.R. (Marie Rose), Chenevix-Trench, G. (Georgia), Beesley, J. (Jonathan), Chen, X. (Xiaoqing), Mannermaa, A. (Arto), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Soini, Y. (Ylermi), Easton, D.F. (Douglas), Couch, F.J. (Fergus), Stevens, K. (Kristen), Fredericksen, Z. (Zachary), Vachon, C. (Celine), Wang, X. (Xing), Margolin, S. (Sara), Lindblom, A. (Annika), Nevanlinna, H. (Heli), Greco, D. (Dario), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Chang-Claude, J. (Jenny), Vrieling, A. (Alina), Flesch-Janys, D. (Dieter), Sinn, H.-P. (Hans-Peter), Wang-Gohrke, S. (Shan), Nickels, S. (Stefan), Brauch, H. (Hiltrud), Ko, Y-D. (Yon-Dschun), Fischer, H.-P., Schmutzler, R.K. (Rita), Meindl, A. (Alfons), Bartram, C.R. (Claus), Schott, S. (Sarah), Engel, C. (Christoph), Godwin, A.K. (Andrew), Weaver, J. (JoEllen), Pathak, S.S., Sharma, P. (Pankaj), Brenner, H. (Hermann), Müller, H. (Heiko), Arndt, V. (Volker), Stegmaier, C. (Christa), Miron, P. (Penelope), Yannoukakos, D. (Drakoulis), Stavropoulou, A. (Alexandra), Fountzilas, G. (George), Gogas, H. (Helen), Swann, R. (Ruth), Dwek, M. (Miriam), Perkins, A. (Annie), Milne, R.L. (Roger), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Bojesen, S.E. (Stig), Nielsen, S.F. (Sune), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Cordina-Duverger, E. (Emilie), Burwinkel, B. (Barbara), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Peto, J. (Julian), Johnson, N. (Nichola), Fletcher, O. (Olivia), Santos Silva, I. (Isabel) dos, Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Hartmann, A. (Arndt), Ekici, A.B. (Arif), Lophatananon, A. (Artitaya), Muir, K.R. (Kenneth), Puttawibul, P. (Puttisak), Wiangnon, S. (Surapon), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Braaf, L.M. (Linde), Rosenberg, E.H. (Efraim), Hopper, J.L. (John), Apicella, C. (Carmel), Park, D.J. (Daniel), Southey, M.C. (Melissa), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Nicholas, O. (Orr), Schoemaker, M. (Minouk), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Bernstein, L. (Leslie), Dur, C.C. (Christina Clarke), Shen, C-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Hsu, H.-M. (Huan-Ming), Hsiung, C.-N. (Chia-Ni), Hamann, U. (Ute), Dünnebier, T. (Thomas), Rud̈iger, T. (Thomas), Ulmer, H.U. (Hans), Pharoah, P.D.P. (Paul), Dunning, A.M. (Alison), Humphreys, M.K. (Manjeet), Wang, Q. (Qing), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Hall, P. (Per), Czene, K. (Kamila), Ambrosone, C.B. (Christine), Ademuyiwa, F. (Foluso), Hwang, H. (Helena), Eccles, D. (Diana), García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Sherman, M.E. (Mark), Lissowska, J. (Jolanta), Devilee, P. (Peter), Seynaeve, C.M. (Caroline), Tollenaar, R.A.E.M. (Rob), Hooning, M.J. (Maartje), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), John, E.M. (Esther), Miron, A. (Alexander), Alnæs, G.G. (Grethe), Kristensen, V. (Vessela), Brøresen-Dale, A.-L. (Anne-Lise), Giles, G.G. (Graham), Baglietto, L. (Laura), McLean, C.A. (Catriona Ann), Severi, G. (Gianluca), Kosel, M. (Matthew), Pankratz, V.S. (Shane), Slager, S. (Susan), Olson, J.E. (Janet), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Barile, M. (Monica), Lambrechts, D. (Diether), Hatse, S. (Sigrid), Dieudonné, A.-S. (Anne-Sophie), Christiaens, M.R. (Marie Rose), Chenevix-Trench, G. (Georgia), Beesley, J. (Jonathan), Chen, X. (Xiaoqing), Mannermaa, A. (Arto), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Soini, Y. (Ylermi), Easton, D.F. (Douglas), and Couch, F.J. (Fergus)
Abstract: The 19p13.1 breast cancer susceptibility locus is a modifier of breast cancer risk in BRCA1 mutation carriers and is also associated with the risk of ovarian cancer. Here, we investigated 19p13.1 variation and risk of breast cancer subtypes, defined by estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor-2 (HER2) status, using 48,869 breast cancer cases and 49,787 controls from the Breast Cancer Association Consortium (BCAC). Variants from 19p13.1 were not associated with breast cancer overall or with ER-positive breast cancer but were significantly associated with ER-negative breast cancer risk [rs8170 OR, 1.10; 95% confidence interval (CI), 1.05-1.15; P = 3.49 × 10 -5] and triple-negative (ER-, PR-, and HER2-negative) breast cancer (rs8170: OR, 1.22; 95% CI, 1.13-1.31; P = 2.22 × 10 -7). However, rs8170 was no longer associated with ERnegative breast cancer risk when triple-negative cases were excluded (OR, 0.98; 95% CI, 0.89-1.07; P = 0.62). In addition, a combined analysis of triple-negative cases from BCAC and the Triple Negative Breast Cancer Consortium (TNBCC; N = 3,566) identified a genome-wide significant association between rs8170 and triple-negative breast cancer risk (OR, 1.25; 95% CI, 1.18-1.33; P=3.31×10 -13]. Thus, 19p13.1 is the first triple-negative- specific breast cancer risk locus and the first locus specific to a histologic subtype defined by ER, PR, and HER2 to be identified. These findings provide convincing evidence that genetic susceptibility to breast cancer varies by tumor subtype and that triple-negative tumors and other subtypes likely arise through distinct etiologic pathways.
Published: 2012
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186. Comparison of 6q25 breast cancer hits from Asian and European genome wide association studies in the Breast Cancer Association consortium (BCAC)

Author: Hein, R. (Rebecca), Maranian, M. (Melanie), Hopper, J.L. (John), Kapuscinski, M.K. (Miroslaw), Southey, M.C. (Melissa), Park, D.J. (Daniel), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Hogervorst, F.B.L. (Frans), Bueno-de-Mesquit, H.B. (Bas), Muir, K.R. (Kenneth), Lophatananon, A. (Artitaya), Rattanamongkongul, S. (Suthee), Puttawibul, P. (Puttisak), Fasching, P.A. (Peter), Hein, A. (Alexander), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Fletcher, O. (Olivia), Johnson, N. (Nichola), Santos Silva, I. (Isabel) dos, Peto, J. (Julian), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Marmee, F. (Frederick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Burwinkel, B. (Barbara), Guénel, P. (Pascal), Cordina-Duverger, E. (Emilie), Menegaux, F. (Florence), Truong, T. (Thérèse), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Milne, R.L. (Roger), Perez, J.I.A. (Jose Ignacio Arias), Zamora, M.P. (Pilar), Benítez, J. (Javier), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Bernstein, L. (Leslie), Clarke, C.A. (Christina), Brenner, H. (Hermann), Müller, H. (Heike), Arndt, V. (Volker), Stegmaier, C. (Christa), Rahman, N. (Nazneen), Seal, S. (Sheila), Turnbull, C. (Clare), Renwick, A. (Anthony), Meindl, A. (Alfons), Schott, S. (Sarah), Bartram, C.R. (Claus), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Hamann, U. (Ute), Ko, Y-D. (Yon-Dschun), Wang-Gohrke, S. (Shan), Dörk, T. (Thilo), Schürmann, P. (Peter), Karstens, J.H. (Johann), Hillemanns, P. (Peter), Nevanlinna, H. (Heli), Heikinen, T. (Tuomas), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Zalutsky, I.V. (Iosif), Antonenkova, N.N. (Natalia), Bermisheva, M. (Marina), Prokovieva, D. (Darya), Farahtdinova, A. (Albina), Khusnutdinova, E.K. (Elza), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Chen, X. (Xiaoqing), Beesley, J. (Jonathan), Lambrechts, D. (Diether), Zhao, H. (Hui), Neven, P. (Patrick), Wildiers, H. (Hans), Nickels, S. (Stefan), Flesch-Janys, D. (Dieter), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Barile, M. (Monica), Couch, F.J. (Fergus), Olson, J.E. (Janet), Wang, X. (Xianshu), Fredericksen, Z. (Zachary), Giles, G.G. (Graham), Baglietto, L. (Laura), McLean, C.A. (Catriona Ann), Severi, G. (Gianluca), Offit, K. (Kenneth), Robson, M. (Mark), Gaudet, M.M. (Mia), Vijai, J. (Joseph), Alnæs, G.G. (Grethe), Kristensen, V. (Vessela), Børresen-Dale, A.L. (Anne Lise), John, E.M. (Esther), Miron, A. (Alexander), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Figueroa, J.D. (Jonine), García-Closas, M. (Montserrat), Lissowska, J. (Jolanta), Sherman, M.E. (Mark), Hooning, M.J. (Maartje), Martens, J.W.M. (John), Seynaeve, C.M. (Caroline), Collée, J.M. (Margriet), Hall, P. (Per), Humpreys, K. (Keith), Czene, K. (Kamila), Liu, J. (Jianjun), Cox, A. (Angela), Brock, I.W. (Ian), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Ahmed, S. (Shahana), Ghoussaini, M. (Maya), Pharoah, P.D.P. (Paul), Kang, D. (Daehee), Yoo, K-Y. (Keun-Young), Noh, D-Y. (Dong-Young), Jakubowska, A. (Anna), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Złowocka, E. (Elzbieta), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Shen, C-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Hsu, H.-M. (Huan-Ming), Hou, M.-F. (Ming-Feng), Orr, N. (Nick), Schoemaker, M. (Minouk), Ashworth, A. (Alan), Swerdlow, A.J. (Anthony ), Trentham-Dietz, A. (Amy), Newcomb, P. (Polly), Titus, L. (Linda), Egan, K.M. (Kathleen), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), Humphreys, M.K. (Manjeet), Morrison, J. (Jonathan), Chang-Claude, J. (Jenny), Easton, D.F. (Douglas), Dunning, A.M. (Alison), Hein, R. (Rebecca), Maranian, M. (Melanie), Hopper, J.L. (John), Kapuscinski, M.K. (Miroslaw), Southey, M.C. (Melissa), Park, D.J. (Daniel), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Hogervorst, F.B.L. (Frans), Bueno-de-Mesquit, H.B. (Bas), Muir, K.R. (Kenneth), Lophatananon, A. (Artitaya), Rattanamongkongul, S. (Suthee), Puttawibul, P. (Puttisak), Fasching, P.A. (Peter), Hein, A. (Alexander), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Fletcher, O. (Olivia), Johnson, N. (Nichola), Santos Silva, I. (Isabel) dos, Peto, J. (Julian), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Marmee, F. (Frederick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Burwinkel, B. (Barbara), Guénel, P. (Pascal), Cordina-Duverger, E. (Emilie), Menegaux, F. (Florence), Truong, T. (Thérèse), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Milne, R.L. (Roger), Perez, J.I.A. (Jose Ignacio Arias), Zamora, M.P. (Pilar), Benítez, J. (Javier), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Bernstein, L. (Leslie), Clarke, C.A. (Christina), Brenner, H. (Hermann), Müller, H. (Heike), Arndt, V. (Volker), Stegmaier, C. (Christa), Rahman, N. (Nazneen), Seal, S. (Sheila), Turnbull, C. (Clare), Renwick, A. (Anthony), Meindl, A. (Alfons), Schott, S. (Sarah), Bartram, C.R. (Claus), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Hamann, U. (Ute), Ko, Y-D. (Yon-Dschun), Wang-Gohrke, S. (Shan), Dörk, T. (Thilo), Schürmann, P. (Peter), Karstens, J.H. (Johann), Hillemanns, P. (Peter), Nevanlinna, H. (Heli), Heikinen, T. (Tuomas), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Zalutsky, I.V. (Iosif), Antonenkova, N.N. (Natalia), Bermisheva, M. (Marina), Prokovieva, D. (Darya), Farahtdinova, A. (Albina), Khusnutdinova, E.K. (Elza), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Chen, X. (Xiaoqing), Beesley, J. (Jonathan), Lambrechts, D. (Diether), Zhao, H. (Hui), Neven, P. (Patrick), Wildiers, H. (Hans), Nickels, S. (Stefan), Flesch-Janys, D. (Dieter), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Barile, M. (Monica), Couch, F.J. (Fergus), Olson, J.E. (Janet), Wang, X. (Xianshu), Fredericksen, Z. (Zachary), Giles, G.G. (Graham), Baglietto, L. (Laura), McLean, C.A. (Catriona Ann), Severi, G. (Gianluca), Offit, K. (Kenneth), Robson, M. (Mark), Gaudet, M.M. (Mia), Vijai, J. (Joseph), Alnæs, G.G. (Grethe), Kristensen, V. (Vessela), Børresen-Dale, A.L. (Anne Lise), John, E.M. (Esther), Miron, A. (Alexander), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Figueroa, J.D. (Jonine), García-Closas, M. (Montserrat), Lissowska, J. (Jolanta), Sherman, M.E. (Mark), Hooning, M.J. (Maartje), Martens, J.W.M. (John), Seynaeve, C.M. (Caroline), Collée, J.M. (Margriet), Hall, P. (Per), Humpreys, K. (Keith), Czene, K. (Kamila), Liu, J. (Jianjun), Cox, A. (Angela), Brock, I.W. (Ian), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Ahmed, S. (Shahana), Ghoussaini, M. (Maya), Pharoah, P.D.P. (Paul), Kang, D. (Daehee), Yoo, K-Y. (Keun-Young), Noh, D-Y. (Dong-Young), Jakubowska, A. (Anna), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Złowocka, E. (Elzbieta), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Shen, C-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Hsu, H.-M. (Huan-Ming), Hou, M.-F. (Ming-Feng), Orr, N. (Nick), Schoemaker, M. (Minouk), Ashworth, A. (Alan), Swerdlow, A.J. (Anthony ), Trentham-Dietz, A. (Amy), Newcomb, P. (Polly), Titus, L. (Linda), Egan, K.M. (Kathleen), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), Humphreys, M.K. (Manjeet), Morrison, J. (Jonathan), Chang-Claude, J. (Jenny), Easton, D.F. (Douglas), and Dunning, A.M. (Alison)
Abstract: The 6q25.1 locus was first identified via a genome-wide association study (GWAS) in Chinese women and marked by single nucleotide polymorphism (SNP) rs2046210, approximately 180 Kb upstream of ESR1. There have been conflicting reports about the association of this locus with breast cancer in Europeans, and a GWAS in Europeans identified a different SNP, tagged here by rs12662670. We examined the associations of both SNPs in up to 61,689 cases and 58,822 controls from forty-four studies collaborating in the Breast Cancer Association Consortium, of which four studies were of Asian and 39 of European descent. Logistic regression was used to estimate odds ratios (OR) and 95% confidence intervals (CI). Case-only analyses were used to compare SNP effects in Estrogen Receptor positive (ER+) versus negative (ER-) tumours. Models including both SNPs were fitted to investigate whether the SNP effec
Published: 2012
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187. Breast cancer risk and 6q22.33: Combined results from breast cancer association consortium and consortium of investigators on modifiers of brca1/2

Author: Kircchoff, T. (Tomas), Offit, K. (Kenneth), Gaudet, M.M. (Mia), Pharoah, P.D.P. (Paul), Easton, D.F. (Douglas), Antoniou, A.C. (Antonis), McGuffog, L. (Lesley), Humphreys, M.K. (Manjeet), Dunning, A.M. (Alison), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Kang, D. (Daehee), Yoo, K-Y. (Keun-Young), Noh, D-Y. (Dong-Young), Ahn, S.-H. (Sei-Hyun), Dörk, T. (Thilo), Schürmann, P. (Peter), Karstens, J.H. (Johann), Hillemanns, P. (Peter), Couch, F.J. (Fergus), Olson, J.E. (Janet), Vachon, C. (Celine), Cox, A. (Angela), Brock, I.W. (Ian), Elliott, G. (Graeme), Reed, M.W.R. (Malcolm), Burwinkel, B. (Barbara), Meindl, A. (Alfons), Brauch, H. (Hiltrud), Justenhoven, C. (Christina), Hamann, U. (Ute), Ko, Y-D. (Yon-Dschun), Fischer, H.-P., Brüning, T. (Thomas), Pesch, B. (Beate), Harth, V. (Volker), Rabstein, S. (Sylvia), Broeks, A. (Annegien), Schmidt, M.K. (Marjanka), Veer, L.J. (Laura) van 't, Braaf, L.M. (Linde), Johnson, N. (Nichola), Fletcher, O. (Olivia), Gibson, L.J. (Lorna), Peto, J. (Julian), Turnbull, C. (Clare), Seal, S. (Sheila), Renwick, A. (Anthony), Rahman, N. (Nazneen), Wu, P.-E. (Pei-Ei), Yu, J-C. (Jyh-Cherng), Hsiung, C.-N. (Chia-Ni), Shen, C-Y. (Chen-Yang), Southey, M.C. (Melissa), Hopper, J.L. (John), Hammet, F. (Fleur), Dorpe, T. (Thijs) van, Dieudonné, A.-S. (Anne-Sophie), Hatse, S. (Sigrid), Lambrechts, D. (Diether), Andrulis, I.L. (Irene), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia), Rogov, J.I. (Juri), Prokofieva, D. (Daria), Bermisheva, M. (Marina), Khusnutdinova, E.K. (Elza), Asperen, C.J. (Christi) van, Tollenaar, R.A.E.M. (Rob), Hooning, M.J. (Maartje), Devilee, P. (Peter), Margolin, S. (Sara), Lindblom, A. (Annika), Milne, R.L. (Roger), Arias Pérez, J.I. (José Ignacio), Zamora, M.P. (Pilar), Benítez, J. (Javier), Severi, G. (Gianluca), Baglietto, L. (Laura), Giles, G.G. (Graham), Chenevix-Trench, G. (Georgia), Spurdle, A.B. (Amanda), Beesley, J. (Jonathan), Chen, X. (Xiaoqing), Holland, H. (Helene), Healey, S. (Sue), Wang-Gohrke, S. (Shan), Chang-Claude, J. (Jenny), Mannermaa, A. (Arto), Kosma, V-M. (Veli-Matti), Kauppinen, J. (Jaana), Kataja, V. (Vesa), Agnarsson, B.A. (Bjarni), Caligo, M.A. (Maria), Godwin, A.K. (Andrew), Nevanlinna, H. (Heli), Heikinen, T. (Tuomas), Fredericksen, Z. (Zachary), Lindor, N.M. (Noralane), Nathanson, K.L. (Katherine), Domchek, S.M. (Susan), Loman, N. (Niklas), Karlsson, P. (Per), Askmalm, M.S. (Marie), Melin, B. (Beatrice), Wachenfeldt, A. (Anna) von, Hogervorst, F.B.L. (Frans), Verheus, M. (Martijn), Rookus, M.A. (Matti), Seynaeve, C.M. (Caroline), Oldenburg, R.A. (Rogier), Ligtenberg, M.J. (Marjolijn), Ausems, M.G.E.M. (Margreet), Aalfs, C.M. (Cora), Gille, H.J.P. (Hans), Wijnen, J.T. (Juul), Gómez García, E.B. (Encarna), Peock, S. (Susan), Cook, M. (Margaret), Oliver, C.T. (Clare), Frost, D. (Debra), Luccarini, C. (Craig), Pichert, G. (Gabriella), Davidson, R. (Rosemarie), Eccles, D. (Diana), Ong, K.-R. (Kai-Ren), Cook, J. (Jackie), Douglas, F. (Fiona), Hodgson, S.V. (Shirley), Evans, D.G. (Gareth), Eeles, R. (Rosalind), Gold, B. (Bert), Wang, X. (Xianshu), Chu, C. (Carol), Kircchoff, T. (Tomas), Offit, K. (Kenneth), Gaudet, M.M. (Mia), Pharoah, P.D.P. (Paul), Easton, D.F. (Douglas), Antoniou, A.C. (Antonis), McGuffog, L. (Lesley), Humphreys, M.K. (Manjeet), Dunning, A.M. (Alison), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Kang, D. (Daehee), Yoo, K-Y. (Keun-Young), Noh, D-Y. (Dong-Young), Ahn, S.-H. (Sei-Hyun), Dörk, T. (Thilo), Schürmann, P. (Peter), Karstens, J.H. (Johann), Hillemanns, P. (Peter), Couch, F.J. (Fergus), Olson, J.E. (Janet), Vachon, C. (Celine), Cox, A. (Angela), Brock, I.W. (Ian), Elliott, G. (Graeme), Reed, M.W.R. (Malcolm), Burwinkel, B. (Barbara), Meindl, A. (Alfons), Brauch, H. (Hiltrud), Justenhoven, C. (Christina), Hamann, U. (Ute), Ko, Y-D. (Yon-Dschun), Fischer, H.-P., Brüning, T. (Thomas), Pesch, B. (Beate), Harth, V. (Volker), Rabstein, S. (Sylvia), Broeks, A. (Annegien), Schmidt, M.K. (Marjanka), Veer, L.J. (Laura) van 't, Braaf, L.M. (Linde), Johnson, N. (Nichola), Fletcher, O. (Olivia), Gibson, L.J. (Lorna), Peto, J. (Julian), Turnbull, C. (Clare), Seal, S. (Sheila), Renwick, A. (Anthony), Rahman, N. (Nazneen), Wu, P.-E. (Pei-Ei), Yu, J-C. (Jyh-Cherng), Hsiung, C.-N. (Chia-Ni), Shen, C-Y. (Chen-Yang), Southey, M.C. (Melissa), Hopper, J.L. (John), Hammet, F. (Fleur), Dorpe, T. (Thijs) van, Dieudonné, A.-S. (Anne-Sophie), Hatse, S. (Sigrid), Lambrechts, D. (Diether), Andrulis, I.L. (Irene), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia), Rogov, J.I. (Juri), Prokofieva, D. (Daria), Bermisheva, M. (Marina), Khusnutdinova, E.K. (Elza), Asperen, C.J. (Christi) van, Tollenaar, R.A.E.M. (Rob), Hooning, M.J. (Maartje), Devilee, P. (Peter), Margolin, S. (Sara), Lindblom, A. (Annika), Milne, R.L. (Roger), Arias Pérez, J.I. (José Ignacio), Zamora, M.P. (Pilar), Benítez, J. (Javier), Severi, G. (Gianluca), Baglietto, L. (Laura), Giles, G.G. (Graham), Chenevix-Trench, G. (Georgia), Spurdle, A.B. (Amanda), Beesley, J. (Jonathan), Chen, X. (Xiaoqing), Holland, H. (Helene), Healey, S. (Sue), Wang-Gohrke, S. (Shan), Chang-Claude, J. (Jenny), Mannermaa, A. (Arto), Kosma, V-M. (Veli-Matti), Kauppinen, J. (Jaana), Kataja, V. (Vesa), Agnarsson, B.A. (Bjarni), Caligo, M.A. (Maria), Godwin, A.K. (Andrew), Nevanlinna, H. (Heli), Heikinen, T. (Tuomas), Fredericksen, Z. (Zachary), Lindor, N.M. (Noralane), Nathanson, K.L. (Katherine), Domchek, S.M. (Susan), Loman, N. (Niklas), Karlsson, P. (Per), Askmalm, M.S. (Marie), Melin, B. (Beatrice), Wachenfeldt, A. (Anna) von, Hogervorst, F.B.L. (Frans), Verheus, M. (Martijn), Rookus, M.A. (Matti), Seynaeve, C.M. (Caroline), Oldenburg, R.A. (Rogier), Ligtenberg, M.J. (Marjolijn), Ausems, M.G.E.M. (Margreet), Aalfs, C.M. (Cora), Gille, H.J.P. (Hans), Wijnen, J.T. (Juul), Gómez García, E.B. (Encarna), Peock, S. (Susan), Cook, M. (Margaret), Oliver, C.T. (Clare), Frost, D. (Debra), Luccarini, C. (Craig), Pichert, G. (Gabriella), Davidson, R. (Rosemarie), Eccles, D. (Diana), Ong, K.-R. (Kai-Ren), Cook, J. (Jackie), Douglas, F. (Fiona), Hodgson, S.V. (Shirley), Evans, D.G. (Gareth), Eeles, R. (Rosalind), Gold, B. (Bert), Wang, X. (Xianshu), and Chu, C. (Carol)
Abstract: Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the present study, we performed a large replication analysis of rs2180341 using data from 31,428 invasive breast cancer cases and 34,700 controls collected from 25 studies in the Breast Cancer Association Consortium (BCAC). In addition, we evaluated whether rs2180341 modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers from 11 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Based on the BCAC data from women of European ancestry, we found evidence for a weak association with breast cancer risk for rs2180341 (per-allele odds ratio (OR) = 1.03, 95% CI 1.00-1.06, p = 0.023). There was evidence for heterogeneity in the ORs among studies (I2 = 49.3%; p = <0.004). In CIMBA, we observed an inverse association with the minor allele of rs2180341 and breast cancer risk in BRCA1 mutation carriers (per-allele OR = 0.89, 95%CI 0.80-1.00, p = 0.048), indicating a potential protective effect of this allele. These data suggest that that 6q22.33 confers a weak effect on breast cancer risk.
Published: 2012
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188. Lipid-related markers and cardiovascular disease prediction

Author: Angelantonio, E. (Emanuele) di, Gao, P. (Pei), Pennells, L. (Lisa), Kaptoge, S. (Stephen), Caslake, M. (Muriel), Thompson, A. (Alexander), Butterworth, A.S. (Adam), Sarwar, S. (Sheryar), Wormser, D. (David), Saleheen, D., Ballantyne, C. (Christie), Psaty, B.M. (Bruce), Sundstrom, J. (Johan), Ridker, P.M. (Paul), Nagel, D. (Dorothea), Gillum, R.F. (Richard), Ford, I. (Ian), Ducimetiere, P. (Pierre), Kiechl, S. (Stefan), Koenig, W. (Wolfgang), Dullaart, R.P.F. (Robin), Assmann, G. (Gerd), D'Agostino, R.B. (Ralph), Dagenais, G.R. (Gilles R), Cooper, J.A. (Jackie), Kromhout, D. (Daan), Onat, A. (Altan), Tipping, A. (Alex), Gómez-de-la-Cámara, A. (Agustín), Rosengren, A. (Annika), Sutherland, S.E. (Susan), Gallacher, J. (John), Fowkes, F.G.R. (F. Gerald R.), Casiglia, E. (Edoardo), Hofman, A. (Albert), Salomaa, V. (Veikko), Barrett-Connor, E. (Elizabeth), Clarke, R. (Robert), Brunner, E. (Eric), Jukema, J.W. (Jan Wouter), Simons, L.A. (Leon), Sandhu, M.S. (Manjinder), Wareham, N.J. (Nick), Khaw, K-T. (Kay-Tee), Kauhanen, J. (Jussi), Salonen, J.T., Howard, W.J. (William), Nordestgaard, B.G. (Børge), Wood, A.M. (Angela), Thompson, S.G. (Simon), Boekholdt, S.M. (Matthijs), Sattar, N. (Naveed), Packard, C. (Chris), Gudnason, V. (Vilmundur), Danesh, J. (John), Angelantonio, E. (Emanuele) di, Gao, P. (Pei), Pennells, L. (Lisa), Kaptoge, S. (Stephen), Caslake, M. (Muriel), Thompson, A. (Alexander), Butterworth, A.S. (Adam), Sarwar, S. (Sheryar), Wormser, D. (David), Saleheen, D., Ballantyne, C. (Christie), Psaty, B.M. (Bruce), Sundstrom, J. (Johan), Ridker, P.M. (Paul), Nagel, D. (Dorothea), Gillum, R.F. (Richard), Ford, I. (Ian), Ducimetiere, P. (Pierre), Kiechl, S. (Stefan), Koenig, W. (Wolfgang), Dullaart, R.P.F. (Robin), Assmann, G. (Gerd), D'Agostino, R.B. (Ralph), Dagenais, G.R. (Gilles R), Cooper, J.A. (Jackie), Kromhout, D. (Daan), Onat, A. (Altan), Tipping, A. (Alex), Gómez-de-la-Cámara, A. (Agustín), Rosengren, A. (Annika), Sutherland, S.E. (Susan), Gallacher, J. (John), Fowkes, F.G.R. (F. Gerald R.), Casiglia, E. (Edoardo), Hofman, A. (Albert), Salomaa, V. (Veikko), Barrett-Connor, E. (Elizabeth), Clarke, R. (Robert), Brunner, E. (Eric), Jukema, J.W. (Jan Wouter), Simons, L.A. (Leon), Sandhu, M.S. (Manjinder), Wareham, N.J. (Nick), Khaw, K-T. (Kay-Tee), Kauhanen, J. (Jussi), Salonen, J.T., Howard, W.J. (William), Nordestgaard, B.G. (Børge), Wood, A.M. (Angela), Thompson, S.G. (Simon), Boekholdt, S.M. (Matthijs), Sattar, N. (Naveed), Packard, C. (Chris), Gudnason, V. (Vilmundur), and Danesh, J. (John)
Abstract: Context: The value of assessing various emerging lipid-related markers for prediction of first cardiovascular events is debated. Objective: To determine whether adding information on apolipoprotein B and apolipoprotein A-I, lipoprotein(a), or lipoprotein-associated phospholipase A2 to total cholesterol and high-density lipoprotein cholesterol (HDL-C) improves cardiovascular disease (CVD) risk prediction. Design, Setting, and Participants: Individual records were available for 165 544 participants without baseline CVD in 37 prospective cohorts (calendar years of recruitment: 1968-2007) with up to 15 126 incident fatal or nonfatal CVD outcomes (1
Published: 2012
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189. C-reactive protein, fibrinogen, and cardiovascular disease prediction

Author: Kaptoge, S. (Stephen), Angelantonio, E. (Emanuele) di, Pennells, L. (Lisa), Wood, A.M. (Angela), White, I.R. (Ian), Gao, P. (Pei), Walker, M. (Mark), Thompson, A. (Alexander), Sarwar, S. (Sheryar), Caslake, M. (Muriel), Butterworth, A.S. (Adam), Amouyel, P. (Philippe), Assmann, G. (Gerd), Bakker, S.J.L. (Stephan), Barr, E.L.M., Barrett-Connor, E. (Elizabeth), Benjamin, E.J. (Emelia), Björkelund, C. (Cecilia), Brenner, H. (Hermann), Brunner, E. (Eric), Clarke, R. (Robert), Cooper, J.A. (Jackie), Cremer, P., Cushman, M. (Mary Ann), Dagenais, G.R. (Gilles R), D'Agostino, R.B. (Ralph), Dankner, R. (Rachel), Davey-Smith, G. (George), Deeg, D.J.H. (Dorly), Dekker, J.M. (Jacqueline), Engström, G., Folsom, A.R. (Aaron), Fowkes, F.G.R. (F. Gerald R.), Gallacher, J. (John), Gaziano, J.M. (J. Michael), Giampaoli, S. (Simona), Gillum, R.F. (Richard), Hofman, A. (Albert), Howard, B.V. (Barbara), Ingelsson, E. (Erik), Iso, H. (Hiroyasu), Jorgensen, T. (Torben), Kiechl, S. (Stefan), Kitamura, A., Kiyohara, Y. (Yutaka), Koenig, W. (Wolfgang), Kromhout, D. (Daan), Kuller, L.H. (Lewis), Lawlor, D.A. (Debbie), Meade, T. (Tom), Nissinen, A. (Aulikki), Nordestgaard, B.G. (Børge), Onat, A. (Altan), Panagiotakos, D.B. (Demosthenes), Psaty, B.M. (Bruce), Rodriguez, B. (Beatriz), Rosengren, A. (Annika), Salomaa, V. (Veikko), Kauhanen, J. (Jussi), Salonen, J.T., Shaffer, J.A. (Jonathan), Shea, S. (Steven), Ford, I. (Ian), Stehouwer, C.D. (Coen), Strandberg, T.E. (Timo), Tipping, A. (Alex), Tosetto, A. (Alberto), Wassertheil-Smoller, S. (Sylvia), Wennberg, P. (Patrik), Westendorp, R.G.J. (Rudi), Whincup, P.H. (Peter), Wilhelmsen, L. (Lars), Woodward, M. (Mark), Lowe, G.D.O. (Gordon), Wareham, N.J. (Nick), Khaw, K-T. (Kay-Tee), Sattar, N. (Naveed), Packard, C. (Chris), Gudnason, V. (Vilmundur), Ridker, P.M. (Paul), Pepys, M.B. (Mark), Thompson, S.G. (Simon), Danesh, J. (John), Kaptoge, S. (Stephen), Angelantonio, E. (Emanuele) di, Pennells, L. (Lisa), Wood, A.M. (Angela), White, I.R. (Ian), Gao, P. (Pei), Walker, M. (Mark), Thompson, A. (Alexander), Sarwar, S. (Sheryar), Caslake, M. (Muriel), Butterworth, A.S. (Adam), Amouyel, P. (Philippe), Assmann, G. (Gerd), Bakker, S.J.L. (Stephan), Barr, E.L.M., Barrett-Connor, E. (Elizabeth), Benjamin, E.J. (Emelia), Björkelund, C. (Cecilia), Brenner, H. (Hermann), Brunner, E. (Eric), Clarke, R. (Robert), Cooper, J.A. (Jackie), Cremer, P., Cushman, M. (Mary Ann), Dagenais, G.R. (Gilles R), D'Agostino, R.B. (Ralph), Dankner, R. (Rachel), Davey-Smith, G. (George), Deeg, D.J.H. (Dorly), Dekker, J.M. (Jacqueline), Engström, G., Folsom, A.R. (Aaron), Fowkes, F.G.R. (F. Gerald R.), Gallacher, J. (John), Gaziano, J.M. (J. Michael), Giampaoli, S. (Simona), Gillum, R.F. (Richard), Hofman, A. (Albert), Howard, B.V. (Barbara), Ingelsson, E. (Erik), Iso, H. (Hiroyasu), Jorgensen, T. (Torben), Kiechl, S. (Stefan), Kitamura, A., Kiyohara, Y. (Yutaka), Koenig, W. (Wolfgang), Kromhout, D. (Daan), Kuller, L.H. (Lewis), Lawlor, D.A. (Debbie), Meade, T. (Tom), Nissinen, A. (Aulikki), Nordestgaard, B.G. (Børge), Onat, A. (Altan), Panagiotakos, D.B. (Demosthenes), Psaty, B.M. (Bruce), Rodriguez, B. (Beatriz), Rosengren, A. (Annika), Salomaa, V. (Veikko), Kauhanen, J. (Jussi), Salonen, J.T., Shaffer, J.A. (Jonathan), Shea, S. (Steven), Ford, I. (Ian), Stehouwer, C.D. (Coen), Strandberg, T.E. (Timo), Tipping, A. (Alex), Tosetto, A. (Alberto), Wassertheil-Smoller, S. (Sylvia), Wennberg, P. (Patrik), Westendorp, R.G.J. (Rudi), Whincup, P.H. (Peter), Wilhelmsen, L. (Lars), Woodward, M. (Mark), Lowe, G.D.O. (Gordon), Wareham, N.J. (Nick), Khaw, K-T. (Kay-Tee), Sattar, N. (Naveed), Packard, C. (Chris), Gudnason, V. (Vilmundur), Ridker, P.M. (Paul), Pepys, M.B. (Mark), Thompson, S.G. (Simon), and Danesh, J. (John)
Abstract: BACKGROUND: There is debate about the value of assessing levels of C-reactive protein (CRP) and other biomarkers of inflammation for the prediction of first cardiovascular events. METHODS: We analyzed data from 52 prospective studies that included 246,669 participants without a history of cardiovascular disease to investigate the value of adding CRP or fibrinogen levels to conventional risk factors for the prediction of cardiovascular risk. We calculated measures of discrimination and reclassification during follow-up and modeled the clinical implications of initiation of statin therapy after the assessment of CRP or fibrinogen. RESULTS: The addition of information on high-density lipoprotein cholesterol to a prognostic model for cardiovascular disease that included age, sex, smoking status, blood pressure, history of diabetes, and total cholesterol level increased the C-index, a measure of risk discrimination, by 0.0050. The further addition to this model of information on CRP or fibrinogen increased the C-index by 0.0039 and 0.0027, respectively (P<0.001), and yielded a net reclassification improvement of 1.52% and 0.83%, respectively, for the predicted 10-year risk categories of "low" (<10%), "intermediate" (10% to <20%), and "high" (≥20%) (P<0.02 for both comparisons). We estimated that among 100,000 adults 40 years of age or older, 15,025 persons would initially be classified as being at intermediate risk for a cardiovascular event if conventional risk factors alone were used to calculate risk. Assuming that statin therapy would be initiated in accordance with Adult Treatment Panel III guidelines (i.e., for persons with a predicted risk of ≥20% and for those with certain other risk factors, such as diabetes, irrespective of their 10-year predicted risk), additional targeted assessment of CRP or fibrinogen levels in the 13,199 remaining participants at intermediate risk could help prevent approximately 30 additional cardiovascular events over the course of 10 ye
Published: 2012
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190. Genome-wide association analysis identifies three new breast cancer susceptibility loci

Author: Ghoussaini, M., Fletcher, O., Michailidou, K., Turnbull, C., Schmidt, M.K., Dicks, E., Dennis, J., Wang, Q., Humphreys, M.K., Luccarini, C., Baynes, C., Conroy, D., Maranian, M., Ahmed, S., Driver, K., Johnson, N., Orr, N., dos Santos Silva, I., Waisfisz, Q., Meijers-Heijboer, H., Uitterlinden, A.G., Rivadeneira, F., Netherlands Collaborative Group on Hereditary, B., Ovarian, C., Hall, P., Czene, K., Irwanto, A., Liu, J., Nevanlinna, H., Aittomaki, K., Blomqvist, C., Meindl, A., Schmutzler, R.K., Muller-Myhsok, B., Lichtner, P., Chang-Claude, J., Hein, R., Nickels, S., Flesch-Janys, D., Tsimiklis, H., Makalic, E., Schmidt, D., Bui, M., Hopper, J.L., Apicella, C., Park, D.J., Southey, M., Hunter, D.J., Chanock, S.J., Broeks, A., Verhoef, S., Hogervorst, F.B., Fasching, P.A., Lux, M.P., Beckmann, M.W., Ekici, A.B., Sawyer, E., Tomlinson, I., Kerin, M., Marme, F., Schneeweiss, A., Sohn, C., Burwinkel, B., Guenel, P., Truong, T., Cordina-Duverger, E., Menegaux, F., Bojesen, S.E., Nordestgaard, B.G., Nielsen, S.F., Flyger, H., Milne, R.L., Alonso, M.R., Gonzalez-Neira, A., Benitez, J., Anton-Culver, H., Ziogas, A., Bernstein, L., Dur, C.C., Brenner, H., Muller, H., Arndt, V., Stegmaier, C., Familial Breast Cancer, S., Justenhoven, C., Brauch, H., Bruning, T., Gene Environment Interaction of Breast Cancer in Germany, N., Wang-Gohrke, S., Eilber, U., Dork, T., Schurmann, P., Bremer, M., Hillemanns, P., Bogdanova, N.V., Antonenkova, N.N., Rogov, Y.I., Karstens, J.H., Bermisheva, M., Prokofieva, D., Ligtenberg, M.J., et al., Ghoussaini, M., Fletcher, O., Michailidou, K., Turnbull, C., Schmidt, M.K., Dicks, E., Dennis, J., Wang, Q., Humphreys, M.K., Luccarini, C., Baynes, C., Conroy, D., Maranian, M., Ahmed, S., Driver, K., Johnson, N., Orr, N., dos Santos Silva, I., Waisfisz, Q., Meijers-Heijboer, H., Uitterlinden, A.G., Rivadeneira, F., Netherlands Collaborative Group on Hereditary, B., Ovarian, C., Hall, P., Czene, K., Irwanto, A., Liu, J., Nevanlinna, H., Aittomaki, K., Blomqvist, C., Meindl, A., Schmutzler, R.K., Muller-Myhsok, B., Lichtner, P., Chang-Claude, J., Hein, R., Nickels, S., Flesch-Janys, D., Tsimiklis, H., Makalic, E., Schmidt, D., Bui, M., Hopper, J.L., Apicella, C., Park, D.J., Southey, M., Hunter, D.J., Chanock, S.J., Broeks, A., Verhoef, S., Hogervorst, F.B., Fasching, P.A., Lux, M.P., Beckmann, M.W., Ekici, A.B., Sawyer, E., Tomlinson, I., Kerin, M., Marme, F., Schneeweiss, A., Sohn, C., Burwinkel, B., Guenel, P., Truong, T., Cordina-Duverger, E., Menegaux, F., Bojesen, S.E., Nordestgaard, B.G., Nielsen, S.F., Flyger, H., Milne, R.L., Alonso, M.R., Gonzalez-Neira, A., Benitez, J., Anton-Culver, H., Ziogas, A., Bernstein, L., Dur, C.C., Brenner, H., Muller, H., Arndt, V., Stegmaier, C., Familial Breast Cancer, S., Justenhoven, C., Brauch, H., Bruning, T., Gene Environment Interaction of Breast Cancer in Germany, N., Wang-Gohrke, S., Eilber, U., Dork, T., Schurmann, P., Bremer, M., Hillemanns, P., Bogdanova, N.V., Antonenkova, N.N., Rogov, Y.I., Karstens, J.H., Bermisheva, M., Prokofieva, D., Ligtenberg, M.J., and et al.
Abstract: Item does not contain fulltext, Breast cancer is the most common cancer among women. To date, 22 common breast cancer susceptibility loci have been identified accounting for approximately 8% of the heritability of the disease. We attempted to replicate 72 promising associations from two independent genome-wide association studies (GWAS) in approximately 70,000 cases and approximately 68,000 controls from 41 case-control studies and 9 breast cancer GWAS. We identified three new breast cancer risk loci at 12p11 (rs10771399; P = 2.7 x 10(-35)), 12q24 (rs1292011; P = 4.3 x 10(-19)) and 21q21 (rs2823093; P = 1.1 x 10(-12)). rs10771399 was associated with similar relative risks for both estrogen receptor (ER)-negative and ER-positive breast cancer, whereas the other two loci were associated only with ER-positive disease. Two of the loci lie in regions that contain strong plausible candidate genes: PTHLH (12p11) has a crucial role in mammary gland development and the establishment of bone metastasis in breast cancer, and NRIP1 (21q21) encodes an ER cofactor and has a role in the regulation of breast cancer cell growth.
Published: 2012

191. Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium

Author: Broeks, A., Schmidt, M.K., Sherman, M.E., Couch, F.J., Hopper, J.L., Dite, G.S., Apicella, C., Smith, L.D., Hammet, F., Southey, M.C., Veer, L.J. van 't, Groot, R. de, Smit, V.T., Fasching, P.A., Beckmann, M.W., Jud, S., Ekici, A.B., Hartmann, A., Hein, A., Schulz-Wendtland, R., Burwinkel, B., Marme, F., Schneeweiss, A., Sinn, H.P., Sohn, C., Tchatchou, S., Bojesen, S.E., Nordestgaard, B.G., Flyger, H., Orsted, D.D., Kaur-Knudsen, D., Milne, R.L., Perez, J.I., Zamora, P., Rodriguez, P.M., Benitez, J., Brauch, H., Justenhoven, C., Ko, Y.D., Hamann, U., Fischer, H.P., Bruning, T., Pesch, B., Chang-Claude, J., Wang-Gohrke, S., Bremer, M., Karstens, J.H., Hillemanns, P., Dork, T., Nevanlinna, H.A., Heikkinen, T., Heikkila, P., Blomqvist, C., Aittomaki, K., Aaltonen, K., Lindblom, A., Margolin, S., Mannermaa, A., Kosma, V.M., Kauppinen, J.M., Kataja, V., Auvinen, P., Eskelinen, M., Soini, Y., Chenevix-Trench, G., Spurdle, A.B., Beesley, J., Chen, X., Holland, H., Lambrechts, D., Claes, B., Vandorpe, T., Neven, P., Wildiers, H., Flesch-Janys, D., Hein, R., Loning, T., Kosel, M., Fredericksen, Z.S., Wang, X., Giles, G.G., Baglietto, L., Severi, G., McLean, C., Haiman, C.A., Henderson, B.E., Marchand, L. le, Kolonel, L.N., Alnaes, G.G., Kristensen, V., Borresen-Dale, A.L., Hunter, D.J., Hankinson, S.E., Andrulis, I.L., Mulligan, A.M., O'Malley, F.P., Devilee, P., Huijts, P.E., Tollenaar, R.A.E.M., Asperen, C.J. van, Broeks, A., Schmidt, M.K., Sherman, M.E., Couch, F.J., Hopper, J.L., Dite, G.S., Apicella, C., Smith, L.D., Hammet, F., Southey, M.C., Veer, L.J. van 't, Groot, R. de, Smit, V.T., Fasching, P.A., Beckmann, M.W., Jud, S., Ekici, A.B., Hartmann, A., Hein, A., Schulz-Wendtland, R., Burwinkel, B., Marme, F., Schneeweiss, A., Sinn, H.P., Sohn, C., Tchatchou, S., Bojesen, S.E., Nordestgaard, B.G., Flyger, H., Orsted, D.D., Kaur-Knudsen, D., Milne, R.L., Perez, J.I., Zamora, P., Rodriguez, P.M., Benitez, J., Brauch, H., Justenhoven, C., Ko, Y.D., Hamann, U., Fischer, H.P., Bruning, T., Pesch, B., Chang-Claude, J., Wang-Gohrke, S., Bremer, M., Karstens, J.H., Hillemanns, P., Dork, T., Nevanlinna, H.A., Heikkinen, T., Heikkila, P., Blomqvist, C., Aittomaki, K., Aaltonen, K., Lindblom, A., Margolin, S., Mannermaa, A., Kosma, V.M., Kauppinen, J.M., Kataja, V., Auvinen, P., Eskelinen, M., Soini, Y., Chenevix-Trench, G., Spurdle, A.B., Beesley, J., Chen, X., Holland, H., Lambrechts, D., Claes, B., Vandorpe, T., Neven, P., Wildiers, H., Flesch-Janys, D., Hein, R., Loning, T., Kosel, M., Fredericksen, Z.S., Wang, X., Giles, G.G., Baglietto, L., Severi, G., McLean, C., Haiman, C.A., Henderson, B.E., Marchand, L. le, Kolonel, L.N., Alnaes, G.G., Kristensen, V., Borresen-Dale, A.L., Hunter, D.J., Hankinson, S.E., Andrulis, I.L., Mulligan, A.M., O'Malley, F.P., Devilee, P., Huijts, P.E., Tollenaar, R.A.E.M., and Asperen, C.J. van
Abstract: Contains fulltext : 96071.pdf (publisher's version ) (Closed access), Breast cancers demonstrate substantial biological, clinical and etiological heterogeneity. We investigated breast cancer risk associations of eight susceptibility loci identified in GWAS and two putative susceptibility loci in candidate genes in relation to specific breast tumor subtypes. Subtypes were defined by five markers (ER, PR, HER2, CK5/6, EGFR) and other pathological and clinical features. Analyses included up to 30 040 invasive breast cancer cases and 53 692 controls from 31 studies within the Breast Cancer Association Consortium. We confirmed previous reports of stronger associations with ER+ than ER- tumors for six of the eight loci identified in GWAS: rs2981582 (10q26) (P-heterogeneity = 6.1 x 10(-18)), rs3803662 (16q12) (P = 3.7 x 10(-5)), rs13281615 (8q24) (P = 0.002), rs13387042 (2q35) (P = 0.006), rs4973768 (3p24) (P = 0.003) and rs6504950 (17q23) (P = 0.002). The two candidate loci, CASP8 (rs1045485, rs17468277) and TGFB1 (rs1982073), were most strongly related with the risk of PR negative tumors (P = 5.1 x 10(-6) and P = 4.1 x 10(-4), respectively), as previously suggested. Four of the eight loci identified in GWAS were associated with triple negative tumors (P
Published: 2011

192. Confirmation of 5p12 as a susceptibility locus for progesterone-receptor- positive, lower grade breast cancer

Author: Milne, R.L. (Roger), Goode, E.L. (Ellen), García-Closas, M. (Montserrat), Couch, F.J. (Fergus), Severi, G. (Gianluca), Hein, R. (Rebecca), Fredericksen, Z. (Zachary), Malats, N. (Núria), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Benítez, J. (Javier), Dörk, T. (Thilo), Schürmann, P. (Peter), Karstens, J.H. (Johann), Hillemanns, P. (Peter), Cox, A. (Angela), Brock, I.W. (Ian), Elliot, K.S. (Katherine), Cross, S.S. (Simon), Seal, S. (Sheila), Turnbull, C. (Clare), Renwick, A. (Anthony), Rahman, N. (Nazneen), Shen, C-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Huang, C.-S. (Chiun-Sheng), Hou, M.-F. (Ming-Feng), Nordestgaard, B.G. (Børge), Bojesen, S.E. (Stig), Lanng, C. (Charlotte), Alnæs, G.G. (Grethe), Kristensen, V. (Vessela), Børrensen-Dale, A.-L. (Anne-Lise), Hopper, J.L. (John), Dite, G.S. (Gillian), Apicella, C. (Carmel), Southey, M.C. (Melissa), Lambrechts, D. (Diether), Yesilyurt, B.T. (Betül), Floris, O.A.M., Leunen, K., Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Chang-Claude, J. (Jenny), Wang-Gohrke, S. (Shan), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Barile, M. (Monica), Giles, G.G. (Graham), Baglietto, L. (Laura), John, E.M. (Esther), Miron, A. (Alexander), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Sherman, M.E. (Mark), Figueroa, J.D. (Jonine), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia), Zalutsky, I.V. (Iosif), Rogov, Y.I. (Yuri), Fasching, P.A. (Peter), Bayer, T. (T.), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Brenner, H. (Hermann), Müller, H. (Heike), Arndt, V. (Volker), Stegmaier, C. (Christa), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Meindl, A. (Alfons), Heil, J. (Joerg), Bartram, C.R. (Claus), Schmutzler, R.K. (Rita), Thomas, G. (Gilles), Hoover, R.N. (Robert), Fletcher, O. (Olivia), Gibson, L.J. (Lorna), Santos Silva, I. (Isabel) dos, Peto, J. (Julian), Nickels, S. (Stefan), Flesch-Janys, D. (Dieter), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Tollenaar, R.A.E.M. (Rob), Pharoah, P.D.P. (Paul), Dunning, A.M. (Alison), Pooley, K.A. (Karen), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Burwinkel, B. (Barbara), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Kang, D. (Daehee), Yoo, K-Y. (Keun-Young), Noh, D-Y. (Dong-Young), Ahn, S.-H. (Sei-Hyun), Hunter, D. (David), Hankinson, S.E. (Susan), Kraft, P. (Peter), Lindstrom, S. (Stephen), Chen, X. (Xiaoqing), Beesley, J. (Jonathan), Hamann, U. (Ute), Harth, V. (Volker), Justenhoven, C. (Christina), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Oldenburg, R.A. (Rogier), Tilanus-Linthorst, M.M.A. (Madeleine), Khusnutdinova, E.K. (Elza), Bermisheva, M. (Marina), Prokofieva, D. (Darya), Farahtdinova, A. (Albina), Olson, J.E. (Janet), Wang, X. (Xing), Humphreys, M.K. (Manjeet), Wang, Q. (Qing), Chenevix-Trench, G. (Georgia), Easton, D.F. (Douglas), Milne, R.L. (Roger), Goode, E.L. (Ellen), García-Closas, M. (Montserrat), Couch, F.J. (Fergus), Severi, G. (Gianluca), Hein, R. (Rebecca), Fredericksen, Z. (Zachary), Malats, N. (Núria), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Benítez, J. (Javier), Dörk, T. (Thilo), Schürmann, P. (Peter), Karstens, J.H. (Johann), Hillemanns, P. (Peter), Cox, A. (Angela), Brock, I.W. (Ian), Elliot, K.S. (Katherine), Cross, S.S. (Simon), Seal, S. (Sheila), Turnbull, C. (Clare), Renwick, A. (Anthony), Rahman, N. (Nazneen), Shen, C-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Huang, C.-S. (Chiun-Sheng), Hou, M.-F. (Ming-Feng), Nordestgaard, B.G. (Børge), Bojesen, S.E. (Stig), Lanng, C. (Charlotte), Alnæs, G.G. (Grethe), Kristensen, V. (Vessela), Børrensen-Dale, A.-L. (Anne-Lise), Hopper, J.L. (John), Dite, G.S. (Gillian), Apicella, C. (Carmel), Southey, M.C. (Melissa), Lambrechts, D. (Diether), Yesilyurt, B.T. (Betül), Floris, O.A.M., Leunen, K., Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Chang-Claude, J. (Jenny), Wang-Gohrke, S. (Shan), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Barile, M. (Monica), Giles, G.G. (Graham), Baglietto, L. (Laura), John, E.M. (Esther), Miron, A. (Alexander), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Sherman, M.E. (Mark), Figueroa, J.D. (Jonine), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia), Zalutsky, I.V. (Iosif), Rogov, Y.I. (Yuri), Fasching, P.A. (Peter), Bayer, T. (T.), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Brenner, H. (Hermann), Müller, H. (Heike), Arndt, V. (Volker), Stegmaier, C. (Christa), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Meindl, A. (Alfons), Heil, J. (Joerg), Bartram, C.R. (Claus), Schmutzler, R.K. (Rita), Thomas, G. (Gilles), Hoover, R.N. (Robert), Fletcher, O. (Olivia), Gibson, L.J. (Lorna), Santos Silva, I. (Isabel) dos, Peto, J. (Julian), Nickels, S. (Stefan), Flesch-Janys, D. (Dieter), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Tollenaar, R.A.E.M. (Rob), Pharoah, P.D.P. (Paul), Dunning, A.M. (Alison), Pooley, K.A. (Karen), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Burwinkel, B. (Barbara), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Kang, D. (Daehee), Yoo, K-Y. (Keun-Young), Noh, D-Y. (Dong-Young), Ahn, S.-H. (Sei-Hyun), Hunter, D. (David), Hankinson, S.E. (Susan), Kraft, P. (Peter), Lindstrom, S. (Stephen), Chen, X. (Xiaoqing), Beesley, J. (Jonathan), Hamann, U. (Ute), Harth, V. (Volker), Justenhoven, C. (Christina), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Oldenburg, R.A. (Rogier), Tilanus-Linthorst, M.M.A. (Madeleine), Khusnutdinova, E.K. (Elza), Bermisheva, M. (Marina), Prokofieva, D. (Darya), Farahtdinova, A. (Albina), Olson, J.E. (Janet), Wang, X. (Xing), Humphreys, M.K. (Manjeet), Wang, Q. (Qing), Chenevix-Trench, G. (Georgia), and Easton, D.F. (Douglas)
Abstract: Background: The single-nucleotide polymorphism (SNP) 5p12-rs10941679 has been found to be associated with risk of breast cancer, particularly estrogen receptor (ER)-positive disease. We aimed to further explore this association overall, and by tumor histopathology, in the Breast Cancer Association Consortium. Methods: Data were combined from 37 studies, including 40,972 invasive cases, 1,398 cases of ductal carcinoma in situ (DCIS), and 46,334 controls, all of white European ancestry, as well as 3,007 invasive cases and 2,337 controls of Asian ancestry. Associations overall and by tumor invasiveness and histopathology were assessed using logistic regression. Results: For white Europeans, the per-allele OR associated with 5p12-rs10941679 was 1.11 (95% CI = 1.08-1.14, P = 7 × 10 -18) for invasive breast cancer and 1.10 (95% CI = 1.01-1.21, P = 0.03) for DCIS. For Asian women, the estimated OR for invasive disease was similar (OR = 1.07, 95%CI = 0.99-1.15, P = 0.09). Further analyses suggested that the association in white Europeans was largely limited to progesterone receptor (PR)- positive disease (per-allele OR = 1.16, 95% CI = 1.12-1.20, P = 1 × 10 -18 vs. OR = 1.03, 95% CI = 0.99-1.07, P
Published: 2011
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193. 7q21-rs6964587 and breast cancer risk: An extended case-control study by the Breast Cancer Association Consortium

Author: Milne, R.L. (Roger), Lorenzo-Bermejo, J. (Justo), Burwinkel, B. (Barbara), Malats, N. (Núria), Arias Pérez, J.I. (José Ignacio), Zamora, M.P. (Pilar), Benítez, J. (Javier), Humphreys, M.K. (Manjeet), García-Closas, M. (Montserrat), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Sherman, M.E. (Mark), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Nevanlinna, H. (Heli), Heikinen, T. (Tuomas), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Devilee, P. (Peter), Asperen, C.J. (Christi) van, Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Hall, P. (Per), Czene, K. (Kamila), Liu, J. (Jianjun), Irwanto, A. (Astrid), Kang, D. (Daehee), Yoo, K-Y. (Keun-Young), Noh, D-Y. (Dong-Young), Couch, F.J. (Fergus), Olson, J.E. (Janet), Wang, X. (Xing), Fredericksen, Z. (Zachary), Nordestgaard, B.G. (Børge), Bojesen, S.E. (Stig), Flyger, H. (Henrik), Margolin, S. (Sara), Lindblom, A. (Annika), Fasching, P.A. (Peter), Schulz-Wendtland, R. (Rüdiger), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Wang-Gohrke, S. (Shan), Shen, C-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Hsu, H.-M. (Huan-Ming), Wu, P.-E. (Pei-Ei), Giles, G.G. (Graham), Severi, G. (Gianluca), Baglietto, L. (Laura), English, D.R. (Dallas), Cox, A. (Angela), Brock, I.W. (Ian), Elliott, G. (Graeme), Reed, M.W.R. (Malcolm), Beesley, J. (Jonathan), Chen, X. (Xiaoqing), Fletcher, O. (Olivia), Gibson, L.J. (Lorna), Santos Silva, I. (Isabel) dos, Peto, J. (Julian), Frank, B. (Bernd), Heil, J. (Joerg), Meindl, A. (Alfons), Chang-Claude, J. (Jenny), Hein, R. (Rebecca), Vrieling, A. (Alina), Flesch-Janys, D. (Dieter), Southey, M.C. (Melissa), Smith, L. (Letitia), Apicella, C. (Carmel), Hopper, J.L. (John), Dunning, A.M. (Alison), Pooley, K.A. (Karen), Pharoah, P.D.P. (Paul), Hamann, U. (Ute), Pesch, B. (Beate), Ko, Y-D. (Yon-Dschun), Easton, D.F. (Douglas), Chenevix-Trench, G. (Georgia), Milne, R.L. (Roger), Lorenzo-Bermejo, J. (Justo), Burwinkel, B. (Barbara), Malats, N. (Núria), Arias Pérez, J.I. (José Ignacio), Zamora, M.P. (Pilar), Benítez, J. (Javier), Humphreys, M.K. (Manjeet), García-Closas, M. (Montserrat), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Sherman, M.E. (Mark), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Nevanlinna, H. (Heli), Heikinen, T. (Tuomas), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Devilee, P. (Peter), Asperen, C.J. (Christi) van, Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Hall, P. (Per), Czene, K. (Kamila), Liu, J. (Jianjun), Irwanto, A. (Astrid), Kang, D. (Daehee), Yoo, K-Y. (Keun-Young), Noh, D-Y. (Dong-Young), Couch, F.J. (Fergus), Olson, J.E. (Janet), Wang, X. (Xing), Fredericksen, Z. (Zachary), Nordestgaard, B.G. (Børge), Bojesen, S.E. (Stig), Flyger, H. (Henrik), Margolin, S. (Sara), Lindblom, A. (Annika), Fasching, P.A. (Peter), Schulz-Wendtland, R. (Rüdiger), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Wang-Gohrke, S. (Shan), Shen, C-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Hsu, H.-M. (Huan-Ming), Wu, P.-E. (Pei-Ei), Giles, G.G. (Graham), Severi, G. (Gianluca), Baglietto, L. (Laura), English, D.R. (Dallas), Cox, A. (Angela), Brock, I.W. (Ian), Elliott, G. (Graeme), Reed, M.W.R. (Malcolm), Beesley, J. (Jonathan), Chen, X. (Xiaoqing), Fletcher, O. (Olivia), Gibson, L.J. (Lorna), Santos Silva, I. (Isabel) dos, Peto, J. (Julian), Frank, B. (Bernd), Heil, J. (Joerg), Meindl, A. (Alfons), Chang-Claude, J. (Jenny), Hein, R. (Rebecca), Vrieling, A. (Alina), Flesch-Janys, D. (Dieter), Southey, M.C. (Melissa), Smith, L. (Letitia), Apicella, C. (Carmel), Hopper, J.L. (John), Dunning, A.M. (Alison), Pooley, K.A. (Karen), Pharoah, P.D.P. (Paul), Hamann, U. (Ute), Pesch, B. (Beate), Ko, Y-D. (Yon-Dschun), Easton, D.F. (Douglas), and Chenevix-Trench, G. (Georgia)
Published: 2011
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194. Hyperlipidæmi

Author: Nordestgaard, B.G., Færgeman, Ole, Bendixen, G., Lorenzen, I., and Hansen, N.E.
Published: 1999

195. Association between a germline OCA2 polymorphism at chromosome 15q13.1 and estrogen receptor-negative breast cancer survival

Author: Azzato, E.M. (Elizabeth), Tyrer, J.P. (Jonathan), Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Ekici, A.B. (Arif), Schulz-Wendtland, R. (Rüdiger), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Milne, R.L. (Roger), Arias Pérez, J.I. (José Ignacio), Menéndez, P. (Primitiva), Benítez, J. (Javier), Chang-Claude, J. (Jenny), Hein, R. (Rebecca), Wang-Gohrke, S. (Shan), Nevanlinna, H. (Heli), Heikinen, T. (Tuomas), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Margolin, S. (Sara), Mannermaa, A. (Arto), Kosma, V-M. (Veli-Matti), Kataja, V. (Vesa), Beesley, J. (Jonathan), Chenevix-Trench, G. (Georgia), Couch, F.J. (Fergus), Olson, J.E. (Janet), Fredericksen, Z. (Zachary), Wang, X. (Xing), Giles, G.G. (Graham), Severi, G. (Gianluca), Baglietto, L. (Laura), Southey, M.C. (Melissa), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), García-Closas, M. (Montserrat), Lissowska, J. (Jolanta), Sherman, M.E. (Mark), Bolton, K.L. (Kelly), Hall, A.S. (Alistair), Czene, K. (Kamila), Cox, A. (Angela), Brock, I.W. (Ian), Elliott, G. (Graeme), Reed, M.W.R. (Malcolm), Greenberg, D.C. (David), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Humphreys, M.K. (Manjeet), Easton, D.F. (Douglas), Caporaso, N.E. (Neil), Pharoah, P.D.P. (Paul), Azzato, E.M. (Elizabeth), Tyrer, J.P. (Jonathan), Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Ekici, A.B. (Arif), Schulz-Wendtland, R. (Rüdiger), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Milne, R.L. (Roger), Arias Pérez, J.I. (José Ignacio), Menéndez, P. (Primitiva), Benítez, J. (Javier), Chang-Claude, J. (Jenny), Hein, R. (Rebecca), Wang-Gohrke, S. (Shan), Nevanlinna, H. (Heli), Heikinen, T. (Tuomas), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Margolin, S. (Sara), Mannermaa, A. (Arto), Kosma, V-M. (Veli-Matti), Kataja, V. (Vesa), Beesley, J. (Jonathan), Chenevix-Trench, G. (Georgia), Couch, F.J. (Fergus), Olson, J.E. (Janet), Fredericksen, Z. (Zachary), Wang, X. (Xing), Giles, G.G. (Graham), Severi, G. (Gianluca), Baglietto, L. (Laura), Southey, M.C. (Melissa), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), García-Closas, M. (Montserrat), Lissowska, J. (Jolanta), Sherman, M.E. (Mark), Bolton, K.L. (Kelly), Hall, A.S. (Alistair), Czene, K. (Kamila), Cox, A. (Angela), Brock, I.W. (Ian), Elliott, G. (Graeme), Reed, M.W.R. (Malcolm), Greenberg, D.C. (David), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Humphreys, M.K. (Manjeet), Easton, D.F. (Douglas), Caporaso, N.E. (Neil), and Pharoah, P.D.P. (Paul)
Abstract: Background Traditional prognostic factors for survival and treatment response of patients with breast cancer do not fully account for observed survival variation. We used available genotype data from a previously conducted two-stage, breast cancer susceptibility genome-wide association study (ie, Studies of Epidemiology and Risk factors in Cancer Heredity [SEARCH]) to investigate associations between variation in germline DNA and overall survival. MethodsWe evaluated possible associations between overall survival after a breast cancer diagnosis and 10621 germline single-nucleotide polymorphisms (SNPs) from up to 3761 patients with invasive breast cancer (including 647 deaths and 26978 person-years at risk) that were genotyped previously in the SEARCH study with high-density oligonucleotide microarrays (ie, hypothesis-generating set). Associations with all-cause mortality were assessed for each SNP by use of Cox regression analysis, generating a per rare allele hazard ratio (HR). To validate putative associations, we used patient genotype information that had been obtained with 5′ nuclease assay or mass spectrometry and overall survival information for up to 14096 patients with invasive breast cancer (including 2303 deaths and 70019 person-years at risk) from 15 international case-control studies (ie, validation set). Fixed-effects meta-analysis was used to generate an overall effect estimate in the validation dataset and in combined SEARCH and validation datasets. All statistical tests were two-sided. ResultsIn the hypothesis-generating dataset, SNP rs4778137 (C>G) of the OCA2 gene at 15q13.1 was statistically significantly associated with overall survival among patients with estrogen receptor-negative tumors, with the rare G allele being associated with increased overall survival (HR of death per rare allele carried = 0.56, 95% confidence interval [CI] = 0.41 to 0.75, P = 9.2 × 10-5). This association was also observed in the validation dataset (HR of death per rar
Published: 2010
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196. Common Genetic Variation in Apoa1 Contributes to Elevated Hdl Cholesterol in the General Population

Author: Haase, C.L., Frikke-Schmidt, R., Nordestgaard, B.G., Jensen, G., Tybjaerg-Hansen, A., Tybjærg-Hansen, Anne, Haase, C.L., Frikke-Schmidt, R., Nordestgaard, B.G., Jensen, G., Tybjaerg-Hansen, A., and Tybjærg-Hansen, Anne
Published: 2010

197. Missense Variants in ATM in 26,101 Breast Cancer Cases and 29,842 Controls

Author: Fletcher, O., Johnson, N., Silva, Andreá Lema Da, Orr, N., Ashworth, A., Nevanlinna, H., Heikkinen, T., Aittomaki, K., Blomqvist, C., Burwinkel, B., Bartram, C.R., Meindl, A., Schmutzler, R.K., Cox, A., Brock, I., Elliott, George Arthur, Travis, Brandon Reed, Southey, M.C., Smith, L., Spurdle, A.B., Hopper, J.L., Couch, F.J., Olson, J.E., Wang, X.S., Fredericksen, Z., Schurmann, P., Waltes, R., Bremer, M., Dork, T., Devilee, P., van Asperen, C.J., Tollenaar, R.A.E.M., Seynaeve, C., Hall, Katrine Blædel Pinholt, Czene, K., Humphreys, K., Liu, J.J., Ahmed, S., Dunning, A.M., Maranian, M., Pharoah, P.D.P., Chenevix-Trench, G., Beesley, J., Bogdanova, N.V., Antonenkova, N.N., Zalutsky, I.V., Anton-Culver, H., Ziogas, A., Brauch, H., Ko, Y.D., Hamann, U., Fasching, P.A., Strick, R., Ekici, A.B., Beckmann, M.W., Gaubert, Giles, Severi, G., Baglietto, L., English, D.R., Milne, R.L., Benitez, J., Arias, J.I., Pita, G., Nordestgaard, B.G., Bojesen, S.E., Flyger, H., Kang, D., Larsen, Marie Sofie Yoo, Noh, D.Y., Mannermaa, A., Kataja, V., Kosma, V.M., Garcia-Closas, M., Chanock, S., Lissowska, J., Brinton, L.A., Chang-Claude, J., Wang-Gohrke, S., Broeks, A., Schmidt, M.K., van Leeuwen, F.E., Van't Veer, L.J., Margolin, S., Hansen, Anne Lindblom, Humphreys, M.K., Morrison, Ann Judith, Platte, R., Easton, D.F., Peto, J., Fletcher, O., Johnson, N., Silva, Andreá Lema Da, Orr, N., Ashworth, A., Nevanlinna, H., Heikkinen, T., Aittomaki, K., Blomqvist, C., Burwinkel, B., Bartram, C.R., Meindl, A., Schmutzler, R.K., Cox, A., Brock, I., Elliott, George Arthur, Travis, Brandon Reed, Southey, M.C., Smith, L., Spurdle, A.B., Hopper, J.L., Couch, F.J., Olson, J.E., Wang, X.S., Fredericksen, Z., Schurmann, P., Waltes, R., Bremer, M., Dork, T., Devilee, P., van Asperen, C.J., Tollenaar, R.A.E.M., Seynaeve, C., Hall, Katrine Blædel Pinholt, Czene, K., Humphreys, K., Liu, J.J., Ahmed, S., Dunning, A.M., Maranian, M., Pharoah, P.D.P., Chenevix-Trench, G., Beesley, J., Bogdanova, N.V., Antonenkova, N.N., Zalutsky, I.V., Anton-Culver, H., Ziogas, A., Brauch, H., Ko, Y.D., Hamann, U., Fasching, P.A., Strick, R., Ekici, A.B., Beckmann, M.W., Gaubert, Giles, Severi, G., Baglietto, L., English, D.R., Milne, R.L., Benitez, J., Arias, J.I., Pita, G., Nordestgaard, B.G., Bojesen, S.E., Flyger, H., Kang, D., Larsen, Marie Sofie Yoo, Noh, D.Y., Mannermaa, A., Kataja, V., Kosma, V.M., Garcia-Closas, M., Chanock, S., Lissowska, J., Brinton, L.A., Chang-Claude, J., Wang-Gohrke, S., Broeks, A., Schmidt, M.K., van Leeuwen, F.E., Van't Veer, L.J., Margolin, S., Hansen, Anne Lindblom, Humphreys, M.K., Morrison, Ann Judith, Platte, R., Easton, D.F., and Peto, J.
Abstract: Background: Truncating mutations in ATM have been shown to increase the risk of breast cancer but the effect of missense variants remains contentious. Methods: We have genotyped five polymorphic (minor allele frequency, 0.9-2.6%) missense single nucleotide polymorphisms (SNP) in ATM (S49C, S707P, F858L, P1054R, and L1420F) in 26,101 breast cancer cases and 29,842 controls from 23 studies in the Breast Cancer Association Consortium. Results: Combining the data from all five SNPs, the odds ratio (OR) was 1.05 for being a heterozygote for any of the SNPs and 1.51 for being a rare homozygote for any of the SNPs with an overall trend OR of 1.06 (P-trend = 0.04). The trend OR among bilateral and familial cases was 1.12 (95% confidence interval, 1.02-1.23; P-trend = 0.02). Conclusions: In this large combined analysis, these five missense ATM SNPs were associated with a small increased risk of breast cancer, explaining an estimated 0.03% of the excess familial risk of breast cancer. Impact: Testing the combined effects of rare missense variants in known breast cancer genes in large collaborative studies should clarify their overall contribution to breast cancer susceptibility. Cancer Epidemiol Biomarkers Prev; 19(9); 2143-51. (C) 2010 AACR
Published: 2010

198. Genetic Variation in Liver X Receptor Alpha and Risk of Ischemic Vascular Disease in the General Population

Author: Stender, Stefan, Frikke-Schmidt, R., Sethi, A.A., Nordestgaard, B.G., Tybjærg-Hansen, Anne, Stender, Stefan, Frikke-Schmidt, R., Sethi, A.A., Nordestgaard, B.G., and Tybjærg-Hansen, Anne
Published: 2010

199. Xanthelasmas Predict Risk of Ischemic Heart Disease, Myocardial Infarction, and Overall Death in the General Population

Author: Christoffersen, M., Frikke-Schmidt, R., Schnohr, P., Nordestgaard, B.G., Tybjaerg-Hansen, A., Tybjærg-Hansen, Anne, Christoffersen, M., Frikke-Schmidt, R., Schnohr, P., Nordestgaard, B.G., Tybjaerg-Hansen, A., and Tybjærg-Hansen, Anne
Published: 2010

200. Common Genetic Variation in Apoa5, Levels of Triglycerides and Risk of Myocardial Infarction in the General Population

Author: Jorgensen, A.B., Frikke-Schmidt, R., Grande, P., Nordestgaard, B.G., Tybjaerg-Hansen, A., Tybjærg-Hansen, Anne, Jorgensen, A.B., Frikke-Schmidt, R., Grande, P., Nordestgaard, B.G., Tybjaerg-Hansen, A., and Tybjærg-Hansen, Anne
Published: 2010

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