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1. Genome-wide association analyses of ovarian cancer patients undergoing primary debulking surgery identify candidate genes for residual disease

Author

Ramachandran, Dhanya, Tyrer, Jonathan P, Kommoss, Stefan, DeFazio, Anna, Riggan, Marjorie J, Webb, Penelope M, Fasching, Peter A, Lambrechts, Diether, García, María J, Rodríguez-Antona, Cristina, Goodman, Marc T, Modugno, Francesmary, Moysich, Kirsten B, Karlan, Beth Y, Lester, Jenny, Kjaer, Susanne K, Jensen, Allan, Høgdall, Estrid, Goode, Ellen L, Cliby, William A, Kumar, Amanika, Wang, Chen, Cunningham, Julie M, Winham, Stacey J, Monteiro, Alvaro N, Schildkraut, Joellen M, Cramer, Daniel W, Terry, Kathryn L, Titus, Linda, Bjorge, Line, Thomsen, Liv Cecilie Vestrheim, Pejovic, Tanja, Høgdall, Claus K, McNeish, Iain A, May, Taymaa, Huntsman, David G, Pfisterer, Jacobus, Canzler, Ulrich, Park-Simon, Tjoung-Won, Schröder, Willibald, Belau, Antje, Hanker, Lars, Harter, Philipp, Sehouli, Jalid, Kimmig, Rainer, de Gregorio, Nikolaus, Schmalfeldt, Barbara, Baumann, Klaus, Hilpert, Felix, Burges, Alexander, Winterhoff, Boris, Schürmann, Peter, Speith, Lisa-Marie, Hillemanns, Peter, Berchuck, Andrew, Johnatty, Sharon E, Ramus, Susan J, Chenevix-Trench, Georgia, Pharoah, Paul DP, Dörk, Thilo, and Heitz, Florian

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Genetics, Women's Health, Human Genome, Ovarian Cancer, Prevention, Cancer, Orphan Drug, Clinical Research, Rare Diseases, 2.1 Biological and endogenous factors, AOCS Group, OPAL Study Group, Medical biotechnology
Abstract

Survival from ovarian cancer depends on the resection status after primary surgery. We performed genome-wide association analyses for resection status of 7705 ovarian cancer patients, including 4954 with high-grade serous carcinoma (HGSOC), to identify variants associated with residual disease. The most significant association with resection status was observed for rs72845444, upstream of MGMT, in HGSOC (p = 3.9 × 10-8). In gene-based analyses, PPP2R5C was the most strongly associated gene in HGSOC after stage adjustment. In an independent set of 378 ovarian tumours from the AGO-OVAR 11 study, variants near MGMT and PPP2R5C correlated with methylation and transcript levels, and PPP2R5C mRNA levels predicted progression-free survival in patients with residual disease. MGMT encodes a DNA repair enzyme, and PPP2R5C encodes the B56γ subunit of the PP2A tumour suppressor. Our results link heritable variation at these two loci with resection status in HGSOC.

Published
2024

4. Ferredoxin-linked flavoenzyme defines a family of pyridine nucleotide-independent thioredoxin reductases

Author

Buey, Rubén M, Fernández-Justel, David, de Pereda, José M, Revuelta, José L, Schürmann, Peter, Buchanan, Bob B, and Balsera, Monica

Subjects
Clostridium acetobutylicum, Crystallography, X-Ray, Ferredoxins, Flavoproteins, Models, Molecular, NADP, Oxidation-Reduction, Protein Conformation, Sequence Analysis, Protein, Sequence Homology, flavoprotein, ferredoxin, protein conformational dynamics, redox-active disulfide, thioredoxin reductase
Abstract

Ferredoxin-dependent thioredoxin reductase was identified 35 y ago in the fermentative bacterium Clostridium pasteurianum [Hammel KE, Cornwell KL, Buchanan BB (1983) Proc Natl Acad Sci USA 80:3681-3685]. The enzyme, a flavoprotein, was strictly dependent on ferredoxin as reductant and was inactive with either NADPH or NADH. This early work has not been further pursued. We have recently reinvestigated the problem and confirmed that the enzyme, here designated ferredoxin-dependent flavin thioredoxin reductase (FFTR), is a flavoprotein. The enzyme differs from ferredoxin-thioredoxin reductase (FTR), which has a signature [4Fe-4S] cluster, but shows structural similarities to NADP-dependent thioredoxin reductase (NTR). Comparative amino acid sequence analysis showed that FFTR is present in a number of clostridial species, some of which lack both FTR and an archetypal NTR. We have isolated, crystallized, and determined the structural properties of FFTR from a member of this group, Clostridium acetobutylicum, both alone and in complex with Trx. The structures showed an elongated FFTR homodimer, each monomer comprising two Rossmann domains and a noncovalently bound FAD cofactor that exposes the isoalloxazine ring to the solvent. The FFTR structures revealed an alternative domain organization compared with NTR that enables the enzyme to accommodate Fdx rather than NADPH. The results suggest that FFTR exists in a range of conformations with varying degrees of domain separation in solution and that the stacking between the two redox-active groups for the transfer of reducing equivalents results in a profound structural reorganization. A mechanism in accord with the findings is proposed.

Published
2018

5. Unprecedented pathway of reducing equivalents in a diflavin-linked disulfide oxidoreductase

Author

Buey, Rubén M, Arellano, Juan B, López-Maury, Luis, Galindo-Trigo, Sergio, Velázquez-Campoy, Adrián, Revuelta, José L, de Pereda, José M, Florencio, Francisco J, Schürmann, Peter, Buchanan, Bob B, and Balsera, Monica

Subjects
Amino Acid Sequence, Bacterial Proteins, Binding Sites, Biocatalysis, Cell Membrane, Crystallography, X-Ray, Cyanobacteria, Disulfides, Flavin-Adenine Dinucleotide, Gene Expression, Kinetics, Models, Molecular, Oxidoreductases, Protein Binding, Protein Conformation, alpha-Helical, Protein Conformation, beta-Strand, Protein Folding, Protein Interaction Domains and Motifs, Recombinant Proteins, Sequence Alignment, Structural Homology, Protein, Substrate Specificity, Synechocystis, Thioredoxin-Disulfide Reductase, flavoprotein, transfer of reducing equivalents, redox active disulfide, Rossmann fold, sulfhydryl
Abstract

Flavoproteins participate in a wide variety of physiologically relevant processes that typically involve redox reactions. Within this protein superfamily, there exists a group that is able to transfer reducing equivalents from FAD to a redox-active disulfide bridge, which further reduces disulfide bridges in target proteins to regulate their structure and function. We have identified a previously undescribed type of flavin enzyme that is exclusive to oxygenic photosynthetic prokaryotes and that is based on the primary sequence that had been assigned as an NADPH-dependent thioredoxin reductase (NTR). However, our experimental data show that the protein does not transfer reducing equivalents from flavins to disulfides as in NTRs but functions in the opposite direction. High-resolution structures of the protein from Gloeobacter violaceus and Synechocystis sp. PCC6803 obtained by X-ray crystallography showed two juxtaposed FAD molecules per monomer in redox communication with an active disulfide bridge in a variant of the fold adopted by NTRs. We have tentatively named the flavoprotein "DDOR" (diflavin-linked disulfide oxidoreductase) and propose that its activity is linked to a thiol-based transfer of reducing equivalents in bacterial membranes. These findings expand the structural and mechanistic repertoire of flavoenzymes with oxidoreductase activity and pave the way to explore new protein engineering approaches aimed at designing redox-active proteins for diverse biotechnological applications.

Published
2017

6. Validation and functional follow‐up of cervical cancer risk variants at the HLA locus.

Author

Eisenblätter, Rieke, Seifert, Finja, Schürmann, Peter, Beckhaus, Theresa, Hanel, Patricia, Jentschke, Matthias, Böhmer, Gerd, Strauß, Hans‐Georg, Hirchenhain, Christine, Schmidmayr, Monika, Müller, Florian, Hein, Alexander, Stuebs, Frederik, Koch, Martin, Ruebner, Matthias, Beckmann, Matthias W., Fasching, Peter A., Luyten, Alexander, Häfner, Norman, and Hillemanns, Peter

Subjects
CERVICAL cancer, EPITHELIUM, CANCER susceptibility, DISEASE risk factors, CANCER invasiveness, DYSPLASIA
Abstract

Cervical cancer is the fourth most common cancer in females. Genome‐wide association studies (GWASs) have proposed cervical cancer susceptibility variants at the HLA locus on chromosome 6p21. To corroborate these findings and investigate their functional impact in cervical tissues and cell lines, we genotyped nine variants from cervical cancer GWASs (rs17190106, rs535777, rs1056429, rs2763979, rs143954678, rs113937848, rs3117027, rs3130214, and rs9477610) in a German hospital‐based series of 1122 invasive cervical cancers, 1408 dysplasias, and 1196 healthy controls. rs17190106, rs1056429 and rs143954678/rs113937848 associated with cervical malignancies overall, while rs17190106 and rs535777 associated specifically with invasive cancer (OR = 0.69, 95% CI = 0.55–0.86, p = 0.001) or adenocarcinomas (OR = 1.63, 95%CI = 1.17–2.27, p = 0.004), respectively. We tested these and one previously genotyped GWAS variant, rs9272117, for potential eQTL effects on 36 gene transcripts at the HLA locus in 280 cervical epithelial tissues. The strongest eQTL pairs were rs9272117 and HLA‐DRB6 (p = 1.9x10E‐5), rs1056429 and HLA‐DRB5 (p = 2.5x10E‐4), and rs535777 and HLA‐DRB1 (p = 2.7x10E‐4). We also identified transcripts that were specifically upregulated (DDX39B, HCP5, HLA‐B, LTB, NFKBIL1) or downregulated (HLA‐C, HLA‐DPB2) in HPV+ or HPV16+ samples. In comparison, treating cervical epithelial cells with proinflammatory cytokine γ‐IFN led to a dose‐dependent induction of HCP5, HLA‐B, HLA‐C, HLA‐DQB1, HLA‐DRB1, HLA‐DRB6, and repression of HSPA1L. Taken together, these results identify relevant genes from both the MHC class I and II regions that are inflammation‐responsive in cervical epithelium and associate with HPV (HCP5, HLA‐B, HLA‐C) and/or with genomic cervical cancer risk variants (HLA‐DRB1, HLA‐DRB6). They may thus constitute important contributors to the immune escape of precancerous cells after HPV‐infection. [ABSTRACT FROM AUTHOR]

Published
2024
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9. Exome sequencing study of Russian breast cancer patients suggests a predisposing role for USP39

Author

Kuligina, Ekaterina S., Sokolenko, Anna P., Bizin, Ilya V., Romanko, Alexandr A., Zagorodnev, Kirill A., Anisimova, Maria O., Krylova, Daria D., Anisimova, Elena I., Mantseva, Maria A., Varma, Ashok K., Hasan, Syed K., Ni, Valeria I., Koloskov, Andrey V., Suspitsin, Evgeny N., Venina, Aigul R., Aleksakhina, Svetlana N., Sokolova, Tatiana N., Milanović, Ana Marija, Schürmann, Peter, Prokofyeva, Darya S., Bermisheva, Marina A., Khusnutdinova, Elza K., Bogdanova, Natalia, Dörk, Thilo, and Imyanitov, Evgeny N.

Published
2020
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11. 9q31.2-rs865686 as a Susceptibility Locus for Estrogen Receptor-Positive Breast Cancer: Evidence from the Breast Cancer Association Consortium

Author

Warren, Helen, Dudbridge, Frank, Fletcher, Olivia, Orr, Nick, Johnson, Nichola, Hopper, John L, Apicella, Carmel, Southey, Melissa C, Mahmoodi, Maryam, Schmidt, Marjanka K, Broeks, Annegien, Cornelissen, Sten, Braaf, Linda M, Muir, Kenneth R, Lophatananon, Artitaya, Chaiwerawattana, Arkom, Wiangnon, Surapon, Fasching, Peter A, Beckmann, Matthias W, Ekici, Arif B, Schulz-Wendtland, Ruediger, Sawyer, Elinor J, Tomlinson, Ian, Kerin, Michael, Burwinkel, Barbara, Marme, Frederik, Schneeweiss, Andreas, Sohn, Christof, Guénel, Pascal, Truong, Thérèse, Laurent-Puig, Pierre, Mulot, Claire, Bojesen, Stig E, Nielsen, Sune F, Flyger, Henrik, Nordestgaard, Børge G, Milne, Roger L, Benítez, Javier, Arias-Pérez, José-Ignacio, Zamora, M Pilar, Anton-Culver, Hoda, Ziogas, Argyrios, Bernstein, Leslie, Dur, Christina Clarke, Brenner, Hermann, Müller, Heiko, Arndt, Volker, Langheinz, Anne, Meindl, Alfons, Golatta, Michael, Bartram, Claus R, Schmutzler, Rita K, Brauch, Hiltrud, Justenhoven, Christina, Brüning, Thomas, Network, for The GENICA, Chang-Claude, Jenny, Wang-Gohrke, Shan, Eilber, Ursula, Dörk, Thilo, Schürmann, Peter, Bremer, Michael, Hillemanns, Peter, Nevanlinna, Heli, Muranen, Taru A, Aittomäki, Kristiina, Blomqvist, Carl, Bogdanova, Natalia, Antonenkova, Natalia, Rogov, Yuriy, Bermisheva, Marina, Prokofyeva, Darya, Zinnatullina, Guzel, Khusnutdinova, Elza, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kosma, Veli-Matti, Hartikainen, Jaana M, Kataja, Vesa, Chenevix-Trench, Georgia, Beesley, Jonathan, Chen, Xiaoqing, Investigators, for kConFab, Group, Australian Ovarian Cancer Study, Lambrechts, Diether, Smeets, Ann, Paridaens, Robert, Weltens, Caroline, Flesch-Janys, Dieter, Buck, Katharina, Behrens, Sabine, Peterlongo, Paolo, Bernard, Loris, Manoukian, Siranoush, Radice, Paolo, Couch, Fergus J, Vachon, Celine, Wang, Xianshu, and Olson, Janet

Subjects
Health Services and Systems, Biomedical and Clinical Sciences, Health Sciences, Oncology and Carcinogenesis, Genetics, Human Genome, Aging, Breast Cancer, Clinical Research, Cancer, 2.1 Biological and endogenous factors, Aetiology, Aged, Breast Neoplasms, Case-Control Studies, Chromosome Mapping, Chromosomes, Human, Pair 9, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Middle Aged, Polymorphism, Single Nucleotide, Receptors, Estrogen, Receptors, Progesterone, GENICA Network, kConFab Investigators, Australian Ovarian Cancer Study Group, Medical and Health Sciences, Epidemiology, Biomedical and clinical sciences, Health sciences
Abstract

BackgroundOur recent genome-wide association study identified a novel breast cancer susceptibility locus at 9q31.2 (rs865686).MethodsTo 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).ResultsThis 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 (P(het)) = 1.3 × 10(-143)], but no evidence of ethnic differences in per allele OR (P(het) = 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; P(het) = 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 the G allele with increasing age at diagnosis (P for linear trend = 0.0095), but only among women with ER(+) tumors.ConclusionsThis study is the first to show that rs865686 is a susceptibility marker for ER(+) breast cancer.ImpactThe findings further support the view that genetic susceptibility varies according to tumor subtype.

Published
2012

12. Genome-wide association analysis identifies three new breast cancer susceptibility loci

Author

Ghoussaini, Maya, Fletcher, Olivia, Michailidou, Kyriaki, Turnbull, Clare, Schmidt, Marjanka K, Dicks, Ed, Dennis, Joe, Wang, Qin, Humphreys, Manjeet K, Luccarini, Craig, Baynes, Caroline, Conroy, Don, Maranian, Melanie, Ahmed, Shahana, Driver, Kristy, Johnson, Nichola, Orr, Nicholas, dos Santos Silva, Isabel, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Uitterlinden, Andre G, Rivadeneira, Fernando, Hall, Per, Czene, Kamila, Irwanto, Astrid, Liu, Jianjun, Nevanlinna, Heli, Aittomäki, Kristiina, Blomqvist, Carl, Meindl, Alfons, Schmutzler, Rita K, Müller-Myhsok, Bertram, Lichtner, Peter, Chang-Claude, Jenny, Hein, Rebecca, Nickels, Stefan, Flesch-Janys, Dieter, Tsimiklis, Helen, Makalic, Enes, Schmidt, Daniel, Bui, Minh, Hopper, John L, Apicella, Carmel, Park, Daniel J, Southey, Melissa, Hunter, David J, Chanock, Stephen J, Broeks, Annegien, Verhoef, Senno, Hogervorst, Frans BL, Fasching, Peter A, Lux, Michael P, Beckmann, Matthias W, Ekici, Arif B, Sawyer, Elinor, Tomlinson, Ian, Kerin, Michael, Marme, Frederik, Schneeweiss, Andreas, Sohn, Christof, Burwinkel, Barbara, Guénel, Pascal, Truong, Thérèse, Cordina-Duverger, Emilie, Menegaux, Florence, Bojesen, Stig E, Nordestgaard, Børge G, Nielsen, Sune F, Flyger, Henrik, Milne, Roger L, Alonso, M Rosario, González-Neira, Anna, Benítez, Javier, Anton-Culver, Hoda, Ziogas, Argyrios, Bernstein, Leslie, Dur, Christina Clarke, Brenner, Hermann, Müller, Heiko, Arndt, Volker, Stegmaier, Christa, Justenhoven, Christina, Brauch, Hiltrud, Brüning, Thomas, Wang-Gohrke, Shan, Eilber, Ursula, Dörk, Thilo, Schürmann, Peter, Bremer, Michael, Hillemanns, Peter, Bogdanova, Natalia V, Antonenkova, Natalia N, Rogov, Yuri I, Karstens, Johann H, Bermisheva, Marina, Prokofieva, Darya, Khusnutdinova, Elza, Lindblom, Annika, Margolin, Sara, and Mannermaa, Arto

Subjects
Biological Sciences, Genetics, Estrogen, Human Genome, Prevention, Cancer, Breast Cancer, Aetiology, 2.1 Biological and endogenous factors, Breast Neoplasms, Chromosomes, Human, Pair 12, Chromosomes, Human, Pair 21, Female, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Logistic Models, Polymorphism, Single Nucleotide, Principal Component Analysis, White People, Netherlands Collaborative Group on Hereditary Breast and Ovarian Cancer, Familial Breast Cancer Study, Gene Environment Interaction of Breast Cancer in Germany (GENICA) Network, kConFab Investigators, Australian Ovarian Cancer Study Group, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Breast cancer is the most common cancer among women. To date, 22 common breast cancer susceptibility loci have been identified accounting for ∼8% of the heritability of the disease. We attempted to replicate 72 promising associations from two independent genome-wide association studies (GWAS) in ∼70,000 cases and ∼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 × 10(-35)), 12q24 (rs1292011; P = 4.3 × 10(-19)) and 21q21 (rs2823093; P = 1.1 × 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

13. Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC).

Author

Hein, Rebecca, Maranian, Melanie, Hopper, John, Kapuscinski, Miroslaw, Southey, Melissa, Park, Daniel, Schmidt, Marjanka, Broeks, Annegien, Hogervorst, Frans, Bueno-de-Mesquita, H, Muir, Kenneth, Lophatananon, Artitaya, Rattanamongkongul, Suthee, Puttawibul, Puttisak, Fasching, Peter, Hein, Alexander, Ekici, Arif, Beckmann, Matthias, Fletcher, Olivia, Johnson, Nichola, dos Santos Silva, Isabel, Peto, Julian, Sawyer, Elinor, Tomlinson, Ian, Kerin, Michael, Miller, Nicola, Marmee, Frederick, Schneeweiss, Andreas, Sohn, Christof, Burwinkel, Barbara, Guénel, Pascal, Cordina-Duverger, Emilie, Menegaux, Florence, Truong, Thérèse, Bojesen, Stig, Nordestgaard, Børge, Flyger, Henrik, Milne, Roger, Perez, Jose, Zamora, M, Benítez, Javier, Bernstein, Leslie, Clarke, Christina, Brenner, Hermann, Müller, Heiko, Arndt, Volker, Stegmaier, Christa, Rahman, Nazneen, Seal, Sheila, Turnbull, Clare, Renwick, Anthony, Meindl, Alfons, Schott, Sarah, Bartram, Claus, Schmutzler, Rita, Brauch, Hiltrud, Hamann, Ute, Ko, Yon-Dschun, Wang-Gohrke, Shan, Dörk, Thilo, Schürmann, Peter, Karstens, Johann, Hillemanns, Peter, Nevanlinna, Heli, Heikkinen, Tuomas, Aittomäki, Kristiina, Blomqvist, Carl, Bogdanova, Natalia, Zalutsky, Iosif, Antonenkova, Natalia, Bermisheva, Marina, Prokovieva, Darya, Farahtdinova, Albina, Khusnutdinova, Elza, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana, Chen, Xiaoqing, Beesley, Jonathan, Lambrechts, Diether, Zhao, Hui, Neven, Patrick, Wildiers, Hans, Nickels, Stefan, Flesch-Janys, Dieter, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Barile, Monica, Couch, Fergus, Olson, Janet, Wang, Xianshu, Fredericksen, Zachary, Giles, Graham, Baglietto, Laura, McLean, Catriona, and Severi, Gianluca

Subjects
Asia, Breast Neoplasms, Chromosomes, Human, Pair 6, Europe, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Haplotypes, Humans, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Receptors, Estrogen, Risk Factors
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 effects were independent. Both SNPs are significantly associated with breast cancer risk in both ethnic groups. Per-allele ORs are higher in Asian than in European studies [rs2046210: OR (A/G) = 1.36 (95% CI 1.26-1.48), p = 7.6 × 10(-14) in Asians and 1.09 (95% CI 1.07-1.11), p = 6.8 × 10(-18) in Europeans. rs12662670: OR (G/T) = 1.29 (95% CI 1.19-1.41), p = 1.2 × 10(-9) in Asians and 1.12 (95% CI 1.08-1.17), p = 3.8 × 10(-9) in Europeans]. SNP rs2046210 is associated with a significantly greater risk of ER- than ER+ tumours in Europeans [OR (ER-) = 1.20 (95% CI 1.15-1.25), p = 1.8 × 10(-17) versus OR (ER+) = 1.07 (95% CI 1.04-1.1), p = 1.3 × 10(-7), p(heterogeneity) = 5.1 × 10(-6)]. In these Asian studies, by contrast, there is no clear evidence of a differential association by tumour receptor status. Each SNP is associated with risk after adjustment for the other SNP. These results suggest the presence of two variants at 6q25.1 each independently associated with breast cancer risk in Asians and in Europeans. Of these two, the one tagged by rs2046210 is associated with a greater risk of ER- tumours.

Published
2012

14. Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2.

Author

Kirchhoff, Tomas, Gaudet, Mia M, Antoniou, Antonis C, McGuffog, Lesley, Humphreys, Manjeet K, Dunning, Alison M, Bojesen, Stig E, Nordestgaard, Børge G, Flyger, Henrik, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Dork, Thilo, Schürmann, Peter, Karstens, Johann H, Hillemanns, Peter, Couch, Fergus J, Olson, Janet, Vachon, Celine, Wang, Xianshu, Cox, Angela, Brock, Ian, Elliott, Graeme, Reed, Malcolm WR, Burwinkel, Barbara, Meindl, Alfons, Brauch, Hiltrud, Hamann, Ute, Ko, Yon-Dschun, GENICA Network, Broeks, Annegien, Schmidt, Marjanka K, Van 't Veer, Laura J, Braaf, Linde M, Johnson, Nichola, Fletcher, Olivia, Gibson, Lorna, Peto, Julian, Turnbull, Clare, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Wu, Pei-Ei, Yu, Jyh-Cherng, Hsiung, Chia-Ni, Shen, Chen-Yang, Southey, Melissa C, Hopper, John L, Hammet, Fleur, Van Dorpe, Thijs, Dieudonne, Anne-Sophie, Hatse, Sigrid, Lambrechts, Diether, Andrulis, Irene L, Bogdanova, Natalia, Antonenkova, Natalia, Rogov, Juri I, Prokofieva, Daria, Bermisheva, Marina, Khusnutdinova, Elza, van Asperen, Christi J, Tollenaar, Robert AEM, Hooning, Maartje J, Devilee, Peter, Margolin, Sara, Lindblom, Annika, Milne, Roger L, Arias, José Ignacio, Zamora, M Pilar, Benítez, Javier, Severi, Gianluca, Baglietto, Laura, Giles, Graham G, kConFab, AOCS Study Group, Spurdle, Amanda B, Beesley, Jonathan, Chen, Xiaoqing, Holland, Helene, Healey, Sue, Wang-Gohrke, Shan, Chang-Claude, Jenny, Mannermaa, Arto, Kosma, Veli-Matti, Kauppinen, Jaana, Kataja, Vesa, Agnarsson, Bjarni A, Caligo, Maria A, Godwin, Andrew K, Nevanlinna, Heli, Heikkinen, Tuomas, Fredericksen, Zachary, Lindor, Noralane, Nathanson, Katherine L, Domchek, Susan M, SWE-BRCA, Loman, Niklas, Karlsson, Per, and Stenmark Askmalm, Marie

Subjects
GENICA Network, kConFab, AOCS Study Group, SWE-BRCA, HEBON, EMBRACE, BCAC/CIMBA, Chromosomes, Human, Pair 6, Humans, Breast Neoplasms, Genetic Predisposition to Disease, BRCA1 Protein, BRCA2 Protein, Receptors, Estrogen, Confidence Intervals, Proportional Hazards Models, Odds Ratio, Risk Factors, Heterozygote, Polymorphism, Single Nucleotide, Alleles, Middle Aged, Female, Genetic Association Studies, Chromosomes, Human, Pair 6, Polymorphism, Single Nucleotide, Receptors, Estrogen, General Science & Technology
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 =

Published
2012

18. Risk of Estrogen Receptor–Positive and –Negative Breast Cancer and Single–Nucleotide Polymorphism 2q35-rs13387042

Author

Milne, Roger L, Benítez, Javier, Nevanlinna, Heli, Heikkinen, Tuomas, Aittomäki, Kristiina, Blomqvist, Carl, Arias, José Ignacio, Zamora, M Pilar, Burwinkel, Barbara, Bartram, Claus R, Meindl, Alfons, Schmutzler, Rita K, Cox, Angela, Brock, Ian, Elliott, Graeme, Reed, Malcolm WR, Southey, Melissa C, Smith, Letitia, Spurdle, Amanda B, Hopper, John L, Couch, Fergus J, Olson, Janet E, Wang, Xianshu, Fredericksen, Zachary, Schürmann, Peter, Bremer, Michael, Hillemanns, Peter, Dörk, Thilo, Devilee, Peter, van Asperen, Christie J, Tollenaar, Rob AEM, Seynaeve, Caroline, Hall, Per, Czene, Kamila, Liu, Jianjun, Li, Yuqing, Ahmed, Shahana, Dunning, Alison M, Maranian, Melanie, Pharoah, Paul DP, Chenevix-Trench, Georgia, Beesley, Jonathan, Investigators, kConFab, Group, AOCS, Bogdanova, Natalia V, Antonenkova, Natalia N, Zalutsky, Iosif V, Anton-Culver, Hoda, Ziogas, Argyrios, Brauch, Hiltrud, Justenhoven, Christina, Ko, Yon-Dschun, Haas, Susanne, Fasching, Peter A, Strick, Reiner, Ekici, Arif B, Beckmann, Matthias W, Giles, Graham G, Severi, Gianluca, Baglietto, Laura, English, Dallas R, Fletcher, Olivia, Johnson, Nichola, dos Santos Silva, Isabel, Peto, Julian, Turnbull, Clare, Hines, Sarah, Renwick, Anthony, Rahman, Nazneen, Nordestgaard, Børge G, Bojesen, Stig E, Flyger, Henrik, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, García-Closas, Montserrat, Chanock, Stephen, Lissowska, Jolanta, Brinton, Louise A, Chang-Claude, Jenny, Wang-Gohrke, Shan, Shen, Chen-Yang, Wang, Hui-Chun, Yu, Jyh-Cherng, Chen, Sou-Tong, Bermisheva, Marina, Nikolaeva, Tatjana, Khusnutdinova, Elza, Humphreys, Manjeet K, Morrison, Jonathan, Platte, Radka, Easton, Douglas F, and Consortium, on behalf of the Breast Cancer Association

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Genetics, Breast Cancer, Clinical Research, Cancer, Human Genome, Estrogen, Adult, Aged, Asian People, Biomarkers, Tumor, Breast Neoplasms, Carcinoma, Ductal, Breast, Carcinoma, Intraductal, Noninfiltrating, Case-Control Studies, Confidence Intervals, Confounding Factors, Epidemiologic, Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, Linkage Disequilibrium, Middle Aged, Neoplasms, Hormone-Dependent, Odds Ratio, Polymorphism, Single Nucleotide, Receptors, Estrogen, Receptors, Progesterone, White People, kConFab Investigators, AOCS Group, Breast Cancer Association Consortium, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract

BackgroundA recent genome-wide association study identified single-nucleotide polymorphism (SNP) 2q35-rs13387042 as a marker of susceptibility to estrogen receptor (ER)-positive breast cancer. We attempted to confirm this association using the Breast Cancer Association Consortium.Methods2q35-rs13387042 SNP was genotyped for 31 510 women with invasive breast cancer, 1101 women with ductal carcinoma in situ, and 35 969 female control subjects from 25 studies. Odds ratios (ORs) were estimated by logistic regression, adjusted for study. Heterogeneity in odds ratios by each of age, ethnicity, and study was assessed by fitting interaction terms. Heterogeneity by each of invasiveness, family history, bilaterality, and hormone receptor status was assessed by subclassifying case patients and applying polytomous logistic regression. All statistical tests were two-sided.ResultsWe found strong evidence of association between rs13387042 and breast cancer in white women of European origin (per-allele OR = 1.12, 95% confidence interval [CI] = 1.09 to 1.15; P(trend) = 1.0 x 10(-19)). The odds ratio was lower than that previously reported (P = .02) and did not vary by age or ethnicity (all P > or = .2). However, it was higher when the analysis was restricted to case patients who were selected for a strong family history (P = .02). An association was observed for both ER-positive (OR = 1.14, 95% CI = 1.10 to 1.17; P = 10(-15)) and ER-negative disease (OR = 1.10, 95% CI = 1.04 to 1.15; P = .0003) and both progesterone receptor (PR)-positive (OR = 1.15, 95% CI = 1.11 to 1.19; P = 5 x 10(-14)) and PR-negative disease (OR = 1.10, 95% CI = 1.06 to 1.15; P = .00002).ConclusionThe rs13387042 is associated with both ER-positive and ER-negative breast cancer in European women.

Published
2009

19. Association of two genomic variants with HPV type-specific risk of cervical cancer

Author

Seifert, Finja, primary, Eisenblätter, Rieke, additional, Beckmann, Julia, additional, Schürmann, Peter, additional, Hanel, Patricia, additional, Jentschke, Matthias, additional, Böhmer, Gerd, additional, Strauß, Hans-Georg, additional, Hirchenhain, Christine, additional, Schmidmayr, Monika, additional, Müller, Florian, additional, Fasching, Peter, additional, Luyten, Alexander, additional, Häfner, Norman, additional, Dürst, Matthias, additional, Runnebaum, Ingo, additional, Hillemanns, Peter, additional, Dörk, Thilo, additional, and Ramachandran, Dhanya, additional

Published
2023
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20. Association of ESR1 gene tagging SNPs with breast cancer risk

Author

Dunning, Alison M, Healey, Catherine S, Baynes, Caroline, Maia, Ana-Teresa, Scollen, Serena, Vega, Ana, Rodríguez, Raquel, Barbosa-Morais, Nuno L, Ponder, Bruce AJ, Low, Yen-Ling, Bingham, Sheila, Haiman, Christopher A, Le Marchand, Loic, Broeks, Annegien, Schmidt, Marjanka K, Hopper, John, Southey, Melissa, Beckmann, Matthias W, Fasching, Peter A, Peto, Julian, Johnson, Nichola, Bojesen, Stig E, Nordestgaard, Børge, Milne, Roger L, Benitez, Javier, Hamann, Ute, Ko, Yon, Schmutzler, Rita K, Burwinkel, Barbara, Schürmann, Peter, Dörk, Thilo, Heikkinen, Tuomas, Nevanlinna, Heli, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kosma, Veli-Matti, Chen, Xiaoqing, Spurdle, Amanda, Change-Claude, Jenny, Flesch-Janys, Dieter, Couch, Fergus J, Olson, Janet E, Severi, Gianluca, Baglietto, Laura, Børresen-Dale, Anne-Lise, Kristensen, Vessela, Hunter, David J, Hankinson, Susan E, Devilee, Peter, Vreeswijk, Maaike, Lissowska, Jolanta, Brinton, Louise, Liu, Jianjun, Hall, Per, Kang, Daehee, Yoo, Keun-Young, Shen, Chen-Yang, Yu, Jyh-Cherng, Anton-Culver, Hoda, Ziogoas, Argyrios, Sigurdson, Alice, Struewing, Jeff, Easton, Douglas F, Garcia-Closas, Montserrat, Humphreys, Manjeet K, Morrison, Jonathan, Pharoah, Paul DP, Pooley, Karen A, and Chenevix-Trench, Georgia

Subjects
Genetics, Cancer, Breast Cancer, Prevention, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Breast Neoplasms, Estrogen Receptor alpha, Female, Genetic Predisposition to Disease, Haplotypes, Humans, Neoplasm Staging, Polymorphism, Single Nucleotide, RNA, Neoplasm, SEARCH, EPIC, MEC, ABCS, ABCFS, BBCC, BBCS, CGPS, CNIO-BCS, GENICA, GC-HBOC, HABCS, HEBCS, KARBAC, KBCS, kConFab and the AOCS Management Group, MARIE, for MCBCS, MCCS, NBCS, NHS, ORIGO, PBCS, SASBAC, SEBCS, TWBCS, UCIBCS, USRTS, BCAC, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

We have conducted a three-stage, comprehensive single nucleotide polymorphism (SNP)-tagging association study of ESR1 gene variants (SNPs) in more than 55,000 breast cancer cases and controls from studies within the Breast Cancer Association Consortium (BCAC). No large risks or highly significant associations were revealed. SNP rs3020314, tagging a region of ESR1 intron 4, is associated with an increase in breast cancer susceptibility with a dominant mode of action in European populations. Carriers of the c-allele have an odds ratio (OR) of 1.05 [95% Confidence Intervals (CI) 1.02-1.09] relative to t-allele homozygotes, P = 0.004. There is significant heterogeneity between studies, P = 0.002. The increased risk appears largely confined to oestrogen receptor-positive tumour risk. The region tagged by SNP rs3020314 contains sequence that is more highly conserved across mammalian species than the rest of intron 4, and it may subtly alter the ratio of two mRNA splice forms.

Published
2009

24. Data from 9q31.2-rs865686 as a Susceptibility Locus for Estrogen Receptor-Positive Breast Cancer: Evidence from the Breast Cancer Association Consortium

Author

Warren, Helen, primary, Dudbridge, Frank, primary, Fletcher, Olivia, primary, Orr, Nick, primary, Johnson, Nichola, primary, Hopper, John L., primary, Apicella, Carmel, primary, Southey, Melissa C., primary, Mahmoodi, Maryam, primary, Schmidt, Marjanka K., primary, Broeks, Annegien, primary, Cornelissen, Sten, primary, Braaf, Linda M., primary, Muir, Kenneth R., primary, Lophatananon, Artitaya, primary, Chaiwerawattana, Arkom, primary, Wiangnon, Surapon, primary, Fasching, Peter A., primary, Beckmann, Matthias W., primary, Ekici, Arif B., primary, Schulz-Wendtland, Ruediger, primary, Sawyer, Elinor J., primary, Tomlinson, Ian, primary, Kerin, Michael, primary, Burwinkel, Barbara, primary, Marme, Frederik, primary, Schneeweiss, Andreas, primary, Sohn, Christof, primary, Guénel, Pascal, primary, Truong, Thérèse, primary, Laurent-Puig, Pierre, primary, Mulot, Claire, primary, Bojesen, Stig E, primary, Nielsen, Sune F., primary, Flyger, Henrik, primary, Nordestgaard, Børge G, primary, Milne, Roger L., primary, Benítez, Javier, primary, Arias-Pérez, José-Ignacio, primary, Zamora, M. Pilar, primary, Anton-Culver, Hoda, primary, Ziogas, Argyrios, primary, Bernstein, Leslie, primary, Dur, Christina Clarke, primary, Brenner, Hermann, primary, Müller, Heiko, primary, Arndt, Volker, primary, Langheinz, Anne, primary, Meindl, Alfons, primary, Golatta, Michael, primary, Bartram, Claus R., primary, Schmutzler, Rita K., primary, Brauch, Hiltrud, primary, Justenhoven, Christina, primary, Brüning, Thomas, primary, Chang-Claude, Jenny, primary, Wang-Gohrke, Shan, primary, Eilber, Ursula, primary, Dörk, Thilo, primary, Schürmann, Peter, primary, Bremer, Michael, primary, Hillemanns, Peter, primary, Nevanlinna, Heli, primary, Muranen, Taru A., primary, Aittomäki, Kristiina, primary, Blomqvist, Carl, primary, Bogdanova, Natalia, primary, Antonenkova, Natalia, primary, Rogov, Yuriy, primary, Bermisheva, Marina, primary, Prokofyeva, Darya, primary, Zinnatullina, Guzel, primary, Khusnutdinova, Elza, primary, Lindblom, Annika, primary, Margolin, Sara, primary, Mannermaa, Arto, primary, Kosma, Veli-Matti, primary, Hartikainen, Jaana M., primary, Kataja, Vesa, primary, Chenevix-Trench, Georgia, primary, Beesley, Jonathan, primary, Chen, Xiaoqing, primary, Lambrechts, Diether, primary, Smeets, Ann, primary, Paridaens, Robert, primary, Weltens, Caroline, primary, Flesch-Janys, Dieter, primary, Buck, Katharina, primary, Behrens, Sabine, primary, Peterlongo, Paolo, primary, Bernard, Loris, primary, Manoukian, Siranoush, primary, Radice, Paolo, primary, Couch, Fergus J., primary, Vachon, Celine, primary, Wang, Xianshu, primary, Olson, Janet, primary, Giles, Graham, primary, Baglietto, Laura, primary, McLean, Cariona A., primary, Severi, Gianluca, primary, John, Esther M., primary, Miron, Alexander, primary, Winqvist, Robert, primary, Pylkäs, Katri, primary, Jukkola-Vuorinen, Arja, primary, Grip, Mervi, primary, Andrulis, Irene L., primary, Knight, Julia A., primary, Mulligan, Anna Marie, primary, Weerasooriya, Nayana, primary, Devilee, Peter, primary, Tollenaar, Robert A.E.M., primary, Martens, John W.M., primary, Seynaeve, Caroline M., primary, Hooning, Maartje J., primary, Hollestelle, Antoinette, primary, Jager, Agnes, primary, Tilanus-Linthorst, Madeleine M.A., primary, Hall, Per, primary, Czene, Kamila, primary, Liu, Jianjun, primary, Li, Jingmei, primary, Cox, Angela, primary, Cross, Simon S., primary, Brock, Ian W., primary, Reed, Malcolm W.R., primary, Pharoah, Paul, primary, Blows, Fiona M., primary, Dunning, Alison M., primary, Ghoussaini, Maya, primary, Ashworth, Alan, primary, Swerdlow, Anthony, primary, Jones, Michael, primary, Schoemaker, Minouk, primary, Easton, Douglas F., primary, Humphreys, Manjeet, primary, Wang, Qin, primary, Peto, Julian, primary, and dos-Santos-Silva, Isabel, primary

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2023
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25. Supplementary Table 3 from 9q31.2-rs865686 as a Susceptibility Locus for Estrogen Receptor-Positive Breast Cancer: Evidence from the Breast Cancer Association Consortium

Author

Warren, Helen, primary, Dudbridge, Frank, primary, Fletcher, Olivia, primary, Orr, Nick, primary, Johnson, Nichola, primary, Hopper, John L., primary, Apicella, Carmel, primary, Southey, Melissa C., primary, Mahmoodi, Maryam, primary, Schmidt, Marjanka K., primary, Broeks, Annegien, primary, Cornelissen, Sten, primary, Braaf, Linda M., primary, Muir, Kenneth R., primary, Lophatananon, Artitaya, primary, Chaiwerawattana, Arkom, primary, Wiangnon, Surapon, primary, Fasching, Peter A., primary, Beckmann, Matthias W., primary, Ekici, Arif B., primary, Schulz-Wendtland, Ruediger, primary, Sawyer, Elinor J., primary, Tomlinson, Ian, primary, Kerin, Michael, primary, Burwinkel, Barbara, primary, Marme, Frederik, primary, Schneeweiss, Andreas, primary, Sohn, Christof, primary, Guénel, Pascal, primary, Truong, Thérèse, primary, Laurent-Puig, Pierre, primary, Mulot, Claire, primary, Bojesen, Stig E, primary, Nielsen, Sune F., primary, Flyger, Henrik, primary, Nordestgaard, Børge G, primary, Milne, Roger L., primary, Benítez, Javier, primary, Arias-Pérez, José-Ignacio, primary, Zamora, M. Pilar, primary, Anton-Culver, Hoda, primary, Ziogas, Argyrios, primary, Bernstein, Leslie, primary, Dur, Christina Clarke, primary, Brenner, Hermann, primary, Müller, Heiko, primary, Arndt, Volker, primary, Langheinz, Anne, primary, Meindl, Alfons, primary, Golatta, Michael, primary, Bartram, Claus R., primary, Schmutzler, Rita K., primary, Brauch, Hiltrud, primary, Justenhoven, Christina, primary, Brüning, Thomas, primary, Chang-Claude, Jenny, primary, Wang-Gohrke, Shan, primary, Eilber, Ursula, primary, Dörk, Thilo, primary, Schürmann, Peter, primary, Bremer, Michael, primary, Hillemanns, Peter, primary, Nevanlinna, Heli, primary, Muranen, Taru A., primary, Aittomäki, Kristiina, primary, Blomqvist, Carl, primary, Bogdanova, Natalia, primary, Antonenkova, Natalia, primary, Rogov, Yuriy, primary, Bermisheva, Marina, primary, Prokofyeva, Darya, primary, Zinnatullina, Guzel, primary, Khusnutdinova, Elza, primary, Lindblom, Annika, primary, Margolin, Sara, primary, Mannermaa, Arto, primary, Kosma, Veli-Matti, primary, Hartikainen, Jaana M., primary, Kataja, Vesa, primary, Chenevix-Trench, Georgia, primary, Beesley, Jonathan, primary, Chen, Xiaoqing, primary, Lambrechts, Diether, primary, Smeets, Ann, primary, Paridaens, Robert, primary, Weltens, Caroline, primary, Flesch-Janys, Dieter, primary, Buck, Katharina, primary, Behrens, Sabine, primary, Peterlongo, Paolo, primary, Bernard, Loris, primary, Manoukian, Siranoush, primary, Radice, Paolo, primary, Couch, Fergus J., primary, Vachon, Celine, primary, Wang, Xianshu, primary, Olson, Janet, primary, Giles, Graham, primary, Baglietto, Laura, primary, McLean, Cariona A., primary, Severi, Gianluca, primary, John, Esther M., primary, Miron, Alexander, primary, Winqvist, Robert, primary, Pylkäs, Katri, primary, Jukkola-Vuorinen, Arja, primary, Grip, Mervi, primary, Andrulis, Irene L., primary, Knight, Julia A., primary, Mulligan, Anna Marie, primary, Weerasooriya, Nayana, primary, Devilee, Peter, primary, Tollenaar, Robert A.E.M., primary, Martens, John W.M., primary, Seynaeve, Caroline M., primary, Hooning, Maartje J., primary, Hollestelle, Antoinette, primary, Jager, Agnes, primary, Tilanus-Linthorst, Madeleine M.A., primary, Hall, Per, primary, Czene, Kamila, primary, Liu, Jianjun, primary, Li, Jingmei, primary, Cox, Angela, primary, Cross, Simon S., primary, Brock, Ian W., primary, Reed, Malcolm W.R., primary, Pharoah, Paul, primary, Blows, Fiona M., primary, Dunning, Alison M., primary, Ghoussaini, Maya, primary, Ashworth, Alan, primary, Swerdlow, Anthony, primary, Jones, Michael, primary, Schoemaker, Minouk, primary, Easton, Douglas F., primary, Humphreys, Manjeet, primary, Wang, Qin, primary, Peto, Julian, primary, and dos-Santos-Silva, Isabel, primary

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2023
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26. Data from Confirmation of 5p12 As a Susceptibility Locus for Progesterone-Receptor–Positive, Lower Grade Breast Cancer

Author

Milne, Roger L., primary, Goode, Ellen L., primary, García-Closas, Montserrat, primary, Couch, Fergus J., primary, Severi, Gianluca, primary, Hein, Rebecca, primary, Fredericksen, Zachary, primary, Malats, Núria, primary, Zamora, M. Pilar, primary, Pérez, Jose Ignacio Arias, primary, Benítez, Javier, primary, Dörk, Thilo, primary, Schürmann, Peter, primary, Karstens, Johann H., primary, Hillemanns, Peter, primary, Cox, Angela, primary, Brock, Ian W., primary, Elliot, Graeme, primary, Cross, Simon S., primary, Seal, Sheila, primary, Turnbull, Clare, primary, Renwick, Anthony, primary, Rahman, Nazneen, primary, Shen, Chen-Yang, primary, Yu, Jyh-Cherng, primary, Huang, Chiun-Sheng, primary, Hou, Ming-Feng, primary, Nordestgaard, Børge G., primary, Bojesen, Stig E., primary, Lanng, Charlotte, primary, Alnæs, Grethe Grenaker, primary, Kristensen, Vessela, primary, Børrensen-Dale, Anne-Lise, primary, Hopper, John L., primary, Dite, Gillian S., primary, Apicella, Carmel, primary, Southey, Melissa C., primary, Lambrechts, Diether, primary, Yesilyurt, Betül T., primary, Floris, Giuseppe, primary, Leunen, Karin, primary, Sangrajrang, Suleeporn, primary, Gaborieau, Valerie, primary, Brennan, Paul, primary, McKay, James, primary, Chang-Claude, Jenny, primary, Wang-Gohrke, Shan, primary, Radice, Paolo, primary, Peterlongo, Paolo, primary, Manoukian, Siranoush, primary, Barile, Monica, primary, Giles, Graham G., primary, Baglietto, Laura, primary, John, Esther M., primary, Miron, Alexander, primary, Chanock, Stephen J., primary, Lissowska, Jolanta, primary, Sherman, Mark E., primary, Figueroa, Jonine D., primary, Bogdanova, Natalia V., primary, Antonenkova, Natalia N., primary, Zalutsky, Iosif V., primary, Rogov, Yuri I., primary, Fasching, Peter A., primary, Bayer, Christian M., primary, Ekici, Arif B., primary, Beckmann, Matthias W., primary, Brenner, Hermann, primary, Müller, Heiko, primary, Arndt, Volker, primary, Stegmaier, Christa, primary, Andrulis, Irene L., primary, Knight, Julia A., primary, Glendon, Gord, primary, Mulligan, Anna Marie, primary, Mannermaa, Arto, primary, Kataja, Vesa, primary, Kosma, Veli-Matti, primary, Hartikainen, Jaana M., primary, Meindl, Alfons, primary, Heil, Joerg, primary, Bartram, Claus R., primary, Schmutzler, Rita K., primary, Thomas, Gilles D., primary, Hoover, Robert N., primary, Fletcher, Olivia, primary, Gibson, Lorna J., primary, dos Santos Silva, Isabel, primary, Peto, Julian, primary, Nickels, Stefan, primary, Flesch-Janys, Dieter, primary, Anton-Culver, Hoda, primary, Ziogas, Argyrios, primary, Sawyer, Elinor, primary, Tomlinson, Ian, primary, Kerin, Michael, primary, Miller, Nicola, primary, Schmidt, Marjanka K., primary, Broeks, Annegien, primary, Van ‘t Veer, Laura J., primary, Tollenaar, Rob A.E.M., primary, Pharoah, Paul D.P., primary, Dunning, Alison M., primary, Pooley, Karen A., primary, Marme, Frederik, primary, Schneeweiss, Andreas, primary, Sohn, Christof, primary, Burwinkel, Barbara, primary, Jakubowska, Anna, primary, Lubinski, Jan, primary, Jaworska, Katarzyna, primary, Durda, Katarzyna, primary, Kang, Daehee, primary, Yoo, Keun-Young, primary, Noh, Dong-Young, primary, Ahn, Sei-Hyun, primary, Hunter, David J., primary, Hankinson, Susan E., primary, Kraft, Peter, primary, Lindstrom, Sara, primary, Chen, Xiaoqing, primary, Beesley, Jonathan, primary, Hamann, Ute, primary, Harth, Volker, primary, Justenhoven, Christina, primary, Winqvist, Robert, primary, Pylkäs, Katri, primary, Jukkola-Vuorinen, Arja, primary, Grip, Mervi, primary, Hooning, Maartje, primary, Hollestelle, Antoinette, primary, Oldenburg, Rogier A., primary, Tilanus-Linthorst, Madeleine, primary, Khusnutdinova, Elza, primary, Bermisheva, Marina, primary, Prokofieva, Darya, primary, Farahtdinova, Albina, primary, Olson, Janet E., primary, Wang, Xianshu, primary, Humphreys, Manjeet K., primary, Wang, Qin, primary, Chenevix-Trench, Georgia, primary, and Easton, Douglas F., primary

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2023
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27. Supplementary Table 3 from Confirmation of 5p12 As a Susceptibility Locus for Progesterone-Receptor–Positive, Lower Grade Breast Cancer

Author

Milne, Roger L., primary, Goode, Ellen L., primary, García-Closas, Montserrat, primary, Couch, Fergus J., primary, Severi, Gianluca, primary, Hein, Rebecca, primary, Fredericksen, Zachary, primary, Malats, Núria, primary, Zamora, M. Pilar, primary, Pérez, Jose Ignacio Arias, primary, Benítez, Javier, primary, Dörk, Thilo, primary, Schürmann, Peter, primary, Karstens, Johann H., primary, Hillemanns, Peter, primary, Cox, Angela, primary, Brock, Ian W., primary, Elliot, Graeme, primary, Cross, Simon S., primary, Seal, Sheila, primary, Turnbull, Clare, primary, Renwick, Anthony, primary, Rahman, Nazneen, primary, Shen, Chen-Yang, primary, Yu, Jyh-Cherng, primary, Huang, Chiun-Sheng, primary, Hou, Ming-Feng, primary, Nordestgaard, Børge G., primary, Bojesen, Stig E., primary, Lanng, Charlotte, primary, Alnæs, Grethe Grenaker, primary, Kristensen, Vessela, primary, Børrensen-Dale, Anne-Lise, primary, Hopper, John L., primary, Dite, Gillian S., primary, Apicella, Carmel, primary, Southey, Melissa C., primary, Lambrechts, Diether, primary, Yesilyurt, Betül T., primary, Floris, Giuseppe, primary, Leunen, Karin, primary, Sangrajrang, Suleeporn, primary, Gaborieau, Valerie, primary, Brennan, Paul, primary, McKay, James, primary, Chang-Claude, Jenny, primary, Wang-Gohrke, Shan, primary, Radice, Paolo, primary, Peterlongo, Paolo, primary, Manoukian, Siranoush, primary, Barile, Monica, primary, Giles, Graham G., primary, Baglietto, Laura, primary, John, Esther M., primary, Miron, Alexander, primary, Chanock, Stephen J., primary, Lissowska, Jolanta, primary, Sherman, Mark E., primary, Figueroa, Jonine D., primary, Bogdanova, Natalia V., primary, Antonenkova, Natalia N., primary, Zalutsky, Iosif V., primary, Rogov, Yuri I., primary, Fasching, Peter A., primary, Bayer, Christian M., primary, Ekici, Arif B., primary, Beckmann, Matthias W., primary, Brenner, Hermann, primary, Müller, Heiko, primary, Arndt, Volker, primary, Stegmaier, Christa, primary, Andrulis, Irene L., primary, Knight, Julia A., primary, Glendon, Gord, primary, Mulligan, Anna Marie, primary, Mannermaa, Arto, primary, Kataja, Vesa, primary, Kosma, Veli-Matti, primary, Hartikainen, Jaana M., primary, Meindl, Alfons, primary, Heil, Joerg, primary, Bartram, Claus R., primary, Schmutzler, Rita K., primary, Thomas, Gilles D., primary, Hoover, Robert N., primary, Fletcher, Olivia, primary, Gibson, Lorna J., primary, dos Santos Silva, Isabel, primary, Peto, Julian, primary, Nickels, Stefan, primary, Flesch-Janys, Dieter, primary, Anton-Culver, Hoda, primary, Ziogas, Argyrios, primary, Sawyer, Elinor, primary, Tomlinson, Ian, primary, Kerin, Michael, primary, Miller, Nicola, primary, Schmidt, Marjanka K., primary, Broeks, Annegien, primary, Van ‘t Veer, Laura J., primary, Tollenaar, Rob A.E.M., primary, Pharoah, Paul D.P., primary, Dunning, Alison M., primary, Pooley, Karen A., primary, Marme, Frederik, primary, Schneeweiss, Andreas, primary, Sohn, Christof, primary, Burwinkel, Barbara, primary, Jakubowska, Anna, primary, Lubinski, Jan, primary, Jaworska, Katarzyna, primary, Durda, Katarzyna, primary, Kang, Daehee, primary, Yoo, Keun-Young, primary, Noh, Dong-Young, primary, Ahn, Sei-Hyun, primary, Hunter, David J., primary, Hankinson, Susan E., primary, Kraft, Peter, primary, Lindstrom, Sara, primary, Chen, Xiaoqing, primary, Beesley, Jonathan, primary, Hamann, Ute, primary, Harth, Volker, primary, Justenhoven, Christina, primary, Winqvist, Robert, primary, Pylkäs, Katri, primary, Jukkola-Vuorinen, Arja, primary, Grip, Mervi, primary, Hooning, Maartje, primary, Hollestelle, Antoinette, primary, Oldenburg, Rogier A., primary, Tilanus-Linthorst, Madeleine, primary, Khusnutdinova, Elza, primary, Bermisheva, Marina, primary, Prokofieva, Darya, primary, Farahtdinova, Albina, primary, Olson, Janet E., primary, Wang, Xianshu, primary, Humphreys, Manjeet K., primary, Wang, Qin, primary, Chenevix-Trench, Georgia, primary, and Easton, Douglas F., primary

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2023
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28. Supplementary Table 2 from 9q31.2-rs865686 as a Susceptibility Locus for Estrogen Receptor-Positive Breast Cancer: Evidence from the Breast Cancer Association Consortium

Author

Warren, Helen, primary, Dudbridge, Frank, primary, Fletcher, Olivia, primary, Orr, Nick, primary, Johnson, Nichola, primary, Hopper, John L., primary, Apicella, Carmel, primary, Southey, Melissa C., primary, Mahmoodi, Maryam, primary, Schmidt, Marjanka K., primary, Broeks, Annegien, primary, Cornelissen, Sten, primary, Braaf, Linda M., primary, Muir, Kenneth R., primary, Lophatananon, Artitaya, primary, Chaiwerawattana, Arkom, primary, Wiangnon, Surapon, primary, Fasching, Peter A., primary, Beckmann, Matthias W., primary, Ekici, Arif B., primary, Schulz-Wendtland, Ruediger, primary, Sawyer, Elinor J., primary, Tomlinson, Ian, primary, Kerin, Michael, primary, Burwinkel, Barbara, primary, Marme, Frederik, primary, Schneeweiss, Andreas, primary, Sohn, Christof, primary, Guénel, Pascal, primary, Truong, Thérèse, primary, Laurent-Puig, Pierre, primary, Mulot, Claire, primary, Bojesen, Stig E, primary, Nielsen, Sune F., primary, Flyger, Henrik, primary, Nordestgaard, Børge G, primary, Milne, Roger L., primary, Benítez, Javier, primary, Arias-Pérez, José-Ignacio, primary, Zamora, M. Pilar, primary, Anton-Culver, Hoda, primary, Ziogas, Argyrios, primary, Bernstein, Leslie, primary, Dur, Christina Clarke, primary, Brenner, Hermann, primary, Müller, Heiko, primary, Arndt, Volker, primary, Langheinz, Anne, primary, Meindl, Alfons, primary, Golatta, Michael, primary, Bartram, Claus R., primary, Schmutzler, Rita K., primary, Brauch, Hiltrud, primary, Justenhoven, Christina, primary, Brüning, Thomas, primary, Chang-Claude, Jenny, primary, Wang-Gohrke, Shan, primary, Eilber, Ursula, primary, Dörk, Thilo, primary, Schürmann, Peter, primary, Bremer, Michael, primary, Hillemanns, Peter, primary, Nevanlinna, Heli, primary, Muranen, Taru A., primary, Aittomäki, Kristiina, primary, Blomqvist, Carl, primary, Bogdanova, Natalia, primary, Antonenkova, Natalia, primary, Rogov, Yuriy, primary, Bermisheva, Marina, primary, Prokofyeva, Darya, primary, Zinnatullina, Guzel, primary, Khusnutdinova, Elza, primary, Lindblom, Annika, primary, Margolin, Sara, primary, Mannermaa, Arto, primary, Kosma, Veli-Matti, primary, Hartikainen, Jaana M., primary, Kataja, Vesa, primary, Chenevix-Trench, Georgia, primary, Beesley, Jonathan, primary, Chen, Xiaoqing, primary, Lambrechts, Diether, primary, Smeets, Ann, primary, Paridaens, Robert, primary, Weltens, Caroline, primary, Flesch-Janys, Dieter, primary, Buck, Katharina, primary, Behrens, Sabine, primary, Peterlongo, Paolo, primary, Bernard, Loris, primary, Manoukian, Siranoush, primary, Radice, Paolo, primary, Couch, Fergus J., primary, Vachon, Celine, primary, Wang, Xianshu, primary, Olson, Janet, primary, Giles, Graham, primary, Baglietto, Laura, primary, McLean, Cariona A., primary, Severi, Gianluca, primary, John, Esther M., primary, Miron, Alexander, primary, Winqvist, Robert, primary, Pylkäs, Katri, primary, Jukkola-Vuorinen, Arja, primary, Grip, Mervi, primary, Andrulis, Irene L., primary, Knight, Julia A., primary, Mulligan, Anna Marie, primary, Weerasooriya, Nayana, primary, Devilee, Peter, primary, Tollenaar, Robert A.E.M., primary, Martens, John W.M., primary, Seynaeve, Caroline M., primary, Hooning, Maartje J., primary, Hollestelle, Antoinette, primary, Jager, Agnes, primary, Tilanus-Linthorst, Madeleine M.A., primary, Hall, Per, primary, Czene, Kamila, primary, Liu, Jianjun, primary, Li, Jingmei, primary, Cox, Angela, primary, Cross, Simon S., primary, Brock, Ian W., primary, Reed, Malcolm W.R., primary, Pharoah, Paul, primary, Blows, Fiona M., primary, Dunning, Alison M., primary, Ghoussaini, Maya, primary, Ashworth, Alan, primary, Swerdlow, Anthony, primary, Jones, Michael, primary, Schoemaker, Minouk, primary, Easton, Douglas F., primary, Humphreys, Manjeet, primary, Wang, Qin, primary, Peto, Julian, primary, and dos-Santos-Silva, Isabel, primary

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2023
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29. Supplementary Table Legend from 9q31.2-rs865686 as a Susceptibility Locus for Estrogen Receptor-Positive Breast Cancer: Evidence from the Breast Cancer Association Consortium

Author

Warren, Helen, primary, Dudbridge, Frank, primary, Fletcher, Olivia, primary, Orr, Nick, primary, Johnson, Nichola, primary, Hopper, John L., primary, Apicella, Carmel, primary, Southey, Melissa C., primary, Mahmoodi, Maryam, primary, Schmidt, Marjanka K., primary, Broeks, Annegien, primary, Cornelissen, Sten, primary, Braaf, Linda M., primary, Muir, Kenneth R., primary, Lophatananon, Artitaya, primary, Chaiwerawattana, Arkom, primary, Wiangnon, Surapon, primary, Fasching, Peter A., primary, Beckmann, Matthias W., primary, Ekici, Arif B., primary, Schulz-Wendtland, Ruediger, primary, Sawyer, Elinor J., primary, Tomlinson, Ian, primary, Kerin, Michael, primary, Burwinkel, Barbara, primary, Marme, Frederik, primary, Schneeweiss, Andreas, primary, Sohn, Christof, primary, Guénel, Pascal, primary, Truong, Thérèse, primary, Laurent-Puig, Pierre, primary, Mulot, Claire, primary, Bojesen, Stig E, primary, Nielsen, Sune F., primary, Flyger, Henrik, primary, Nordestgaard, Børge G, primary, Milne, Roger L., primary, Benítez, Javier, primary, Arias-Pérez, José-Ignacio, primary, Zamora, M. Pilar, primary, Anton-Culver, Hoda, primary, Ziogas, Argyrios, primary, Bernstein, Leslie, primary, Dur, Christina Clarke, primary, Brenner, Hermann, primary, Müller, Heiko, primary, Arndt, Volker, primary, Langheinz, Anne, primary, Meindl, Alfons, primary, Golatta, Michael, primary, Bartram, Claus R., primary, Schmutzler, Rita K., primary, Brauch, Hiltrud, primary, Justenhoven, Christina, primary, Brüning, Thomas, primary, Chang-Claude, Jenny, primary, Wang-Gohrke, Shan, primary, Eilber, Ursula, primary, Dörk, Thilo, primary, Schürmann, Peter, primary, Bremer, Michael, primary, Hillemanns, Peter, primary, Nevanlinna, Heli, primary, Muranen, Taru A., primary, Aittomäki, Kristiina, primary, Blomqvist, Carl, primary, Bogdanova, Natalia, primary, Antonenkova, Natalia, primary, Rogov, Yuriy, primary, Bermisheva, Marina, primary, Prokofyeva, Darya, primary, Zinnatullina, Guzel, primary, Khusnutdinova, Elza, primary, Lindblom, Annika, primary, Margolin, Sara, primary, Mannermaa, Arto, primary, Kosma, Veli-Matti, primary, Hartikainen, Jaana M., primary, Kataja, Vesa, primary, Chenevix-Trench, Georgia, primary, Beesley, Jonathan, primary, Chen, Xiaoqing, primary, Lambrechts, Diether, primary, Smeets, Ann, primary, Paridaens, Robert, primary, Weltens, Caroline, primary, Flesch-Janys, Dieter, primary, Buck, Katharina, primary, Behrens, Sabine, primary, Peterlongo, Paolo, primary, Bernard, Loris, primary, Manoukian, Siranoush, primary, Radice, Paolo, primary, Couch, Fergus J., primary, Vachon, Celine, primary, Wang, Xianshu, primary, Olson, Janet, primary, Giles, Graham, primary, Baglietto, Laura, primary, McLean, Cariona A., primary, Severi, Gianluca, primary, John, Esther M., primary, Miron, Alexander, primary, Winqvist, Robert, primary, Pylkäs, Katri, primary, Jukkola-Vuorinen, Arja, primary, Grip, Mervi, primary, Andrulis, Irene L., primary, Knight, Julia A., primary, Mulligan, Anna Marie, primary, Weerasooriya, Nayana, primary, Devilee, Peter, primary, Tollenaar, Robert A.E.M., primary, Martens, John W.M., primary, Seynaeve, Caroline M., primary, Hooning, Maartje J., primary, Hollestelle, Antoinette, primary, Jager, Agnes, primary, Tilanus-Linthorst, Madeleine M.A., primary, Hall, Per, primary, Czene, Kamila, primary, Liu, Jianjun, primary, Li, Jingmei, primary, Cox, Angela, primary, Cross, Simon S., primary, Brock, Ian W., primary, Reed, Malcolm W.R., primary, Pharoah, Paul, primary, Blows, Fiona M., primary, Dunning, Alison M., primary, Ghoussaini, Maya, primary, Ashworth, Alan, primary, Swerdlow, Anthony, primary, Jones, Michael, primary, Schoemaker, Minouk, primary, Easton, Douglas F., primary, Humphreys, Manjeet, primary, Wang, Qin, primary, Peto, Julian, primary, and dos-Santos-Silva, Isabel, primary

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2023
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30. Supplementary Table 1 from 9q31.2-rs865686 as a Susceptibility Locus for Estrogen Receptor-Positive Breast Cancer: Evidence from the Breast Cancer Association Consortium

Author

Warren, Helen, primary, Dudbridge, Frank, primary, Fletcher, Olivia, primary, Orr, Nick, primary, Johnson, Nichola, primary, Hopper, John L., primary, Apicella, Carmel, primary, Southey, Melissa C., primary, Mahmoodi, Maryam, primary, Schmidt, Marjanka K., primary, Broeks, Annegien, primary, Cornelissen, Sten, primary, Braaf, Linda M., primary, Muir, Kenneth R., primary, Lophatananon, Artitaya, primary, Chaiwerawattana, Arkom, primary, Wiangnon, Surapon, primary, Fasching, Peter A., primary, Beckmann, Matthias W., primary, Ekici, Arif B., primary, Schulz-Wendtland, Ruediger, primary, Sawyer, Elinor J., primary, Tomlinson, Ian, primary, Kerin, Michael, primary, Burwinkel, Barbara, primary, Marme, Frederik, primary, Schneeweiss, Andreas, primary, Sohn, Christof, primary, Guénel, Pascal, primary, Truong, Thérèse, primary, Laurent-Puig, Pierre, primary, Mulot, Claire, primary, Bojesen, Stig E, primary, Nielsen, Sune F., primary, Flyger, Henrik, primary, Nordestgaard, Børge G, primary, Milne, Roger L., primary, Benítez, Javier, primary, Arias-Pérez, José-Ignacio, primary, Zamora, M. Pilar, primary, Anton-Culver, Hoda, primary, Ziogas, Argyrios, primary, Bernstein, Leslie, primary, Dur, Christina Clarke, primary, Brenner, Hermann, primary, Müller, Heiko, primary, Arndt, Volker, primary, Langheinz, Anne, primary, Meindl, Alfons, primary, Golatta, Michael, primary, Bartram, Claus R., primary, Schmutzler, Rita K., primary, Brauch, Hiltrud, primary, Justenhoven, Christina, primary, Brüning, Thomas, primary, Chang-Claude, Jenny, primary, Wang-Gohrke, Shan, primary, Eilber, Ursula, primary, Dörk, Thilo, primary, Schürmann, Peter, primary, Bremer, Michael, primary, Hillemanns, Peter, primary, Nevanlinna, Heli, primary, Muranen, Taru A., primary, Aittomäki, Kristiina, primary, Blomqvist, Carl, primary, Bogdanova, Natalia, primary, Antonenkova, Natalia, primary, Rogov, Yuriy, primary, Bermisheva, Marina, primary, Prokofyeva, Darya, primary, Zinnatullina, Guzel, primary, Khusnutdinova, Elza, primary, Lindblom, Annika, primary, Margolin, Sara, primary, Mannermaa, Arto, primary, Kosma, Veli-Matti, primary, Hartikainen, Jaana M., primary, Kataja, Vesa, primary, Chenevix-Trench, Georgia, primary, Beesley, Jonathan, primary, Chen, Xiaoqing, primary, Lambrechts, Diether, primary, Smeets, Ann, primary, Paridaens, Robert, primary, Weltens, Caroline, primary, Flesch-Janys, Dieter, primary, Buck, Katharina, primary, Behrens, Sabine, primary, Peterlongo, Paolo, primary, Bernard, Loris, primary, Manoukian, Siranoush, primary, Radice, Paolo, primary, Couch, Fergus J., primary, Vachon, Celine, primary, Wang, Xianshu, primary, Olson, Janet, primary, Giles, Graham, primary, Baglietto, Laura, primary, McLean, Cariona A., primary, Severi, Gianluca, primary, John, Esther M., primary, Miron, Alexander, primary, Winqvist, Robert, primary, Pylkäs, Katri, primary, Jukkola-Vuorinen, Arja, primary, Grip, Mervi, primary, Andrulis, Irene L., primary, Knight, Julia A., primary, Mulligan, Anna Marie, primary, Weerasooriya, Nayana, primary, Devilee, Peter, primary, Tollenaar, Robert A.E.M., primary, Martens, John W.M., primary, Seynaeve, Caroline M., primary, Hooning, Maartje J., primary, Hollestelle, Antoinette, primary, Jager, Agnes, primary, Tilanus-Linthorst, Madeleine M.A., primary, Hall, Per, primary, Czene, Kamila, primary, Liu, Jianjun, primary, Li, Jingmei, primary, Cox, Angela, primary, Cross, Simon S., primary, Brock, Ian W., primary, Reed, Malcolm W.R., primary, Pharoah, Paul, primary, Blows, Fiona M., primary, Dunning, Alison M., primary, Ghoussaini, Maya, primary, Ashworth, Alan, primary, Swerdlow, Anthony, primary, Jones, Michael, primary, Schoemaker, Minouk, primary, Easton, Douglas F., primary, Humphreys, Manjeet, primary, Wang, Qin, primary, Peto, Julian, primary, and dos-Santos-Silva, Isabel, primary

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2023
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31. Supplementary Table 1 from Confirmation of 5p12 As a Susceptibility Locus for Progesterone-Receptor–Positive, Lower Grade Breast Cancer

Author

Milne, Roger L., primary, Goode, Ellen L., primary, García-Closas, Montserrat, primary, Couch, Fergus J., primary, Severi, Gianluca, primary, Hein, Rebecca, primary, Fredericksen, Zachary, primary, Malats, Núria, primary, Zamora, M. Pilar, primary, Pérez, Jose Ignacio Arias, primary, Benítez, Javier, primary, Dörk, Thilo, primary, Schürmann, Peter, primary, Karstens, Johann H., primary, Hillemanns, Peter, primary, Cox, Angela, primary, Brock, Ian W., primary, Elliot, Graeme, primary, Cross, Simon S., primary, Seal, Sheila, primary, Turnbull, Clare, primary, Renwick, Anthony, primary, Rahman, Nazneen, primary, Shen, Chen-Yang, primary, Yu, Jyh-Cherng, primary, Huang, Chiun-Sheng, primary, Hou, Ming-Feng, primary, Nordestgaard, Børge G., primary, Bojesen, Stig E., primary, Lanng, Charlotte, primary, Alnæs, Grethe Grenaker, primary, Kristensen, Vessela, primary, Børrensen-Dale, Anne-Lise, primary, Hopper, John L., primary, Dite, Gillian S., primary, Apicella, Carmel, primary, Southey, Melissa C., primary, Lambrechts, Diether, primary, Yesilyurt, Betül T., primary, Floris, Giuseppe, primary, Leunen, Karin, primary, Sangrajrang, Suleeporn, primary, Gaborieau, Valerie, primary, Brennan, Paul, primary, McKay, James, primary, Chang-Claude, Jenny, primary, Wang-Gohrke, Shan, primary, Radice, Paolo, primary, Peterlongo, Paolo, primary, Manoukian, Siranoush, primary, Barile, Monica, primary, Giles, Graham G., primary, Baglietto, Laura, primary, John, Esther M., primary, Miron, Alexander, primary, Chanock, Stephen J., primary, Lissowska, Jolanta, primary, Sherman, Mark E., primary, Figueroa, Jonine D., primary, Bogdanova, Natalia V., primary, Antonenkova, Natalia N., primary, Zalutsky, Iosif V., primary, Rogov, Yuri I., primary, Fasching, Peter A., primary, Bayer, Christian M., primary, Ekici, Arif B., primary, Beckmann, Matthias W., primary, Brenner, Hermann, primary, Müller, Heiko, primary, Arndt, Volker, primary, Stegmaier, Christa, primary, Andrulis, Irene L., primary, Knight, Julia A., primary, Glendon, Gord, primary, Mulligan, Anna Marie, primary, Mannermaa, Arto, primary, Kataja, Vesa, primary, Kosma, Veli-Matti, primary, Hartikainen, Jaana M., primary, Meindl, Alfons, primary, Heil, Joerg, primary, Bartram, Claus R., primary, Schmutzler, Rita K., primary, Thomas, Gilles D., primary, Hoover, Robert N., primary, Fletcher, Olivia, primary, Gibson, Lorna J., primary, dos Santos Silva, Isabel, primary, Peto, Julian, primary, Nickels, Stefan, primary, Flesch-Janys, Dieter, primary, Anton-Culver, Hoda, primary, Ziogas, Argyrios, primary, Sawyer, Elinor, primary, Tomlinson, Ian, primary, Kerin, Michael, primary, Miller, Nicola, primary, Schmidt, Marjanka K., primary, Broeks, Annegien, primary, Van ‘t Veer, Laura J., primary, Tollenaar, Rob A.E.M., primary, Pharoah, Paul D.P., primary, Dunning, Alison M., primary, Pooley, Karen A., primary, Marme, Frederik, primary, Schneeweiss, Andreas, primary, Sohn, Christof, primary, Burwinkel, Barbara, primary, Jakubowska, Anna, primary, Lubinski, Jan, primary, Jaworska, Katarzyna, primary, Durda, Katarzyna, primary, Kang, Daehee, primary, Yoo, Keun-Young, primary, Noh, Dong-Young, primary, Ahn, Sei-Hyun, primary, Hunter, David J., primary, Hankinson, Susan E., primary, Kraft, Peter, primary, Lindstrom, Sara, primary, Chen, Xiaoqing, primary, Beesley, Jonathan, primary, Hamann, Ute, primary, Harth, Volker, primary, Justenhoven, Christina, primary, Winqvist, Robert, primary, Pylkäs, Katri, primary, Jukkola-Vuorinen, Arja, primary, Grip, Mervi, primary, Hooning, Maartje, primary, Hollestelle, Antoinette, primary, Oldenburg, Rogier A., primary, Tilanus-Linthorst, Madeleine, primary, Khusnutdinova, Elza, primary, Bermisheva, Marina, primary, Prokofieva, Darya, primary, Farahtdinova, Albina, primary, Olson, Janet E., primary, Wang, Xianshu, primary, Humphreys, Manjeet K., primary, Wang, Qin, primary, Chenevix-Trench, Georgia, primary, and Easton, Douglas F., primary

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2023
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32. Supplementary Table 2 from Confirmation of 5p12 As a Susceptibility Locus for Progesterone-Receptor–Positive, Lower Grade Breast Cancer

Author

Milne, Roger L., primary, Goode, Ellen L., primary, García-Closas, Montserrat, primary, Couch, Fergus J., primary, Severi, Gianluca, primary, Hein, Rebecca, primary, Fredericksen, Zachary, primary, Malats, Núria, primary, Zamora, M. Pilar, primary, Pérez, Jose Ignacio Arias, primary, Benítez, Javier, primary, Dörk, Thilo, primary, Schürmann, Peter, primary, Karstens, Johann H., primary, Hillemanns, Peter, primary, Cox, Angela, primary, Brock, Ian W., primary, Elliot, Graeme, primary, Cross, Simon S., primary, Seal, Sheila, primary, Turnbull, Clare, primary, Renwick, Anthony, primary, Rahman, Nazneen, primary, Shen, Chen-Yang, primary, Yu, Jyh-Cherng, primary, Huang, Chiun-Sheng, primary, Hou, Ming-Feng, primary, Nordestgaard, Børge G., primary, Bojesen, Stig E., primary, Lanng, Charlotte, primary, Alnæs, Grethe Grenaker, primary, Kristensen, Vessela, primary, Børrensen-Dale, Anne-Lise, primary, Hopper, John L., primary, Dite, Gillian S., primary, Apicella, Carmel, primary, Southey, Melissa C., primary, Lambrechts, Diether, primary, Yesilyurt, Betül T., primary, Floris, Giuseppe, primary, Leunen, Karin, primary, Sangrajrang, Suleeporn, primary, Gaborieau, Valerie, primary, Brennan, Paul, primary, McKay, James, primary, Chang-Claude, Jenny, primary, Wang-Gohrke, Shan, primary, Radice, Paolo, primary, Peterlongo, Paolo, primary, Manoukian, Siranoush, primary, Barile, Monica, primary, Giles, Graham G., primary, Baglietto, Laura, primary, John, Esther M., primary, Miron, Alexander, primary, Chanock, Stephen J., primary, Lissowska, Jolanta, primary, Sherman, Mark E., primary, Figueroa, Jonine D., primary, Bogdanova, Natalia V., primary, Antonenkova, Natalia N., primary, Zalutsky, Iosif V., primary, Rogov, Yuri I., primary, Fasching, Peter A., primary, Bayer, Christian M., primary, Ekici, Arif B., primary, Beckmann, Matthias W., primary, Brenner, Hermann, primary, Müller, Heiko, primary, Arndt, Volker, primary, Stegmaier, Christa, primary, Andrulis, Irene L., primary, Knight, Julia A., primary, Glendon, Gord, primary, Mulligan, Anna Marie, primary, Mannermaa, Arto, primary, Kataja, Vesa, primary, Kosma, Veli-Matti, primary, Hartikainen, Jaana M., primary, Meindl, Alfons, primary, Heil, Joerg, primary, Bartram, Claus R., primary, Schmutzler, Rita K., primary, Thomas, Gilles D., primary, Hoover, Robert N., primary, Fletcher, Olivia, primary, Gibson, Lorna J., primary, dos Santos Silva, Isabel, primary, Peto, Julian, primary, Nickels, Stefan, primary, Flesch-Janys, Dieter, primary, Anton-Culver, Hoda, primary, Ziogas, Argyrios, primary, Sawyer, Elinor, primary, Tomlinson, Ian, primary, Kerin, Michael, primary, Miller, Nicola, primary, Schmidt, Marjanka K., primary, Broeks, Annegien, primary, Van ‘t Veer, Laura J., primary, Tollenaar, Rob A.E.M., primary, Pharoah, Paul D.P., primary, Dunning, Alison M., primary, Pooley, Karen A., primary, Marme, Frederik, primary, Schneeweiss, Andreas, primary, Sohn, Christof, primary, Burwinkel, Barbara, primary, Jakubowska, Anna, primary, Lubinski, Jan, primary, Jaworska, Katarzyna, primary, Durda, Katarzyna, primary, Kang, Daehee, primary, Yoo, Keun-Young, primary, Noh, Dong-Young, primary, Ahn, Sei-Hyun, primary, Hunter, David J., primary, Hankinson, Susan E., primary, Kraft, Peter, primary, Lindstrom, Sara, primary, Chen, Xiaoqing, primary, Beesley, Jonathan, primary, Hamann, Ute, primary, Harth, Volker, primary, Justenhoven, Christina, primary, Winqvist, Robert, primary, Pylkäs, Katri, primary, Jukkola-Vuorinen, Arja, primary, Grip, Mervi, primary, Hooning, Maartje, primary, Hollestelle, Antoinette, primary, Oldenburg, Rogier A., primary, Tilanus-Linthorst, Madeleine, primary, Khusnutdinova, Elza, primary, Bermisheva, Marina, primary, Prokofieva, Darya, primary, Farahtdinova, Albina, primary, Olson, Janet E., primary, Wang, Xianshu, primary, Humphreys, Manjeet K., primary, Wang, Qin, primary, Chenevix-Trench, Georgia, primary, and Easton, Douglas F., primary

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2023
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33. Supplementary Table 4 from Confirmation of 5p12 As a Susceptibility Locus for Progesterone-Receptor–Positive, Lower Grade Breast Cancer

Author

Milne, Roger L., primary, Goode, Ellen L., primary, García-Closas, Montserrat, primary, Couch, Fergus J., primary, Severi, Gianluca, primary, Hein, Rebecca, primary, Fredericksen, Zachary, primary, Malats, Núria, primary, Zamora, M. Pilar, primary, Pérez, Jose Ignacio Arias, primary, Benítez, Javier, primary, Dörk, Thilo, primary, Schürmann, Peter, primary, Karstens, Johann H., primary, Hillemanns, Peter, primary, Cox, Angela, primary, Brock, Ian W., primary, Elliot, Graeme, primary, Cross, Simon S., primary, Seal, Sheila, primary, Turnbull, Clare, primary, Renwick, Anthony, primary, Rahman, Nazneen, primary, Shen, Chen-Yang, primary, Yu, Jyh-Cherng, primary, Huang, Chiun-Sheng, primary, Hou, Ming-Feng, primary, Nordestgaard, Børge G., primary, Bojesen, Stig E., primary, Lanng, Charlotte, primary, Alnæs, Grethe Grenaker, primary, Kristensen, Vessela, primary, Børrensen-Dale, Anne-Lise, primary, Hopper, John L., primary, Dite, Gillian S., primary, Apicella, Carmel, primary, Southey, Melissa C., primary, Lambrechts, Diether, primary, Yesilyurt, Betül T., primary, Floris, Giuseppe, primary, Leunen, Karin, primary, Sangrajrang, Suleeporn, primary, Gaborieau, Valerie, primary, Brennan, Paul, primary, McKay, James, primary, Chang-Claude, Jenny, primary, Wang-Gohrke, Shan, primary, Radice, Paolo, primary, Peterlongo, Paolo, primary, Manoukian, Siranoush, primary, Barile, Monica, primary, Giles, Graham G., primary, Baglietto, Laura, primary, John, Esther M., primary, Miron, Alexander, primary, Chanock, Stephen J., primary, Lissowska, Jolanta, primary, Sherman, Mark E., primary, Figueroa, Jonine D., primary, Bogdanova, Natalia V., primary, Antonenkova, Natalia N., primary, Zalutsky, Iosif V., primary, Rogov, Yuri I., primary, Fasching, Peter A., primary, Bayer, Christian M., primary, Ekici, Arif B., primary, Beckmann, Matthias W., primary, Brenner, Hermann, primary, Müller, Heiko, primary, Arndt, Volker, primary, Stegmaier, Christa, primary, Andrulis, Irene L., primary, Knight, Julia A., primary, Glendon, Gord, primary, Mulligan, Anna Marie, primary, Mannermaa, Arto, primary, Kataja, Vesa, primary, Kosma, Veli-Matti, primary, Hartikainen, Jaana M., primary, Meindl, Alfons, primary, Heil, Joerg, primary, Bartram, Claus R., primary, Schmutzler, Rita K., primary, Thomas, Gilles D., primary, Hoover, Robert N., primary, Fletcher, Olivia, primary, Gibson, Lorna J., primary, dos Santos Silva, Isabel, primary, Peto, Julian, primary, Nickels, Stefan, primary, Flesch-Janys, Dieter, primary, Anton-Culver, Hoda, primary, Ziogas, Argyrios, primary, Sawyer, Elinor, primary, Tomlinson, Ian, primary, Kerin, Michael, primary, Miller, Nicola, primary, Schmidt, Marjanka K., primary, Broeks, Annegien, primary, Van ‘t Veer, Laura J., primary, Tollenaar, Rob A.E.M., primary, Pharoah, Paul D.P., primary, Dunning, Alison M., primary, Pooley, Karen A., primary, Marme, Frederik, primary, Schneeweiss, Andreas, primary, Sohn, Christof, primary, Burwinkel, Barbara, primary, Jakubowska, Anna, primary, Lubinski, Jan, primary, Jaworska, Katarzyna, primary, Durda, Katarzyna, primary, Kang, Daehee, primary, Yoo, Keun-Young, primary, Noh, Dong-Young, primary, Ahn, Sei-Hyun, primary, Hunter, David J., primary, Hankinson, Susan E., primary, Kraft, Peter, primary, Lindstrom, Sara, primary, Chen, Xiaoqing, primary, Beesley, Jonathan, primary, Hamann, Ute, primary, Harth, Volker, primary, Justenhoven, Christina, primary, Winqvist, Robert, primary, Pylkäs, Katri, primary, Jukkola-Vuorinen, Arja, primary, Grip, Mervi, primary, Hooning, Maartje, primary, Hollestelle, Antoinette, primary, Oldenburg, Rogier A., primary, Tilanus-Linthorst, Madeleine, primary, Khusnutdinova, Elza, primary, Bermisheva, Marina, primary, Prokofieva, Darya, primary, Farahtdinova, Albina, primary, Olson, Janet E., primary, Wang, Xianshu, primary, Humphreys, Manjeet K., primary, Wang, Qin, primary, Chenevix-Trench, Georgia, primary, and Easton, Douglas F., primary

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2023
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35. Association of two genomic variants with HPV subtype-specific risk of cervical cancer

Author

Ramachandran, Dhanya, primary, Seifert, Finja, additional, Eisenblätter, Rieke, additional, Beckmann, Julia, additional, Schürmann, Peter, additional, Hanel, Patricia, additional, Jentschke, M., additional, Böhmer, Gerd, additional, Strauß, Hans-Georg, additional, Hirchenhain, Christine, additional, Schmidmayr, Monika, additional, Müller, Florian, additional, Fasching, Peter, additional, Luyten, Alexander, additional, Häfner, Norman, additional, Dürst, Matthias, additional, Runnebaum, Ingo, additional, Hillemanns, Peter, additional, and Dörk, Thilo, additional

Published
2023
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41. Association analysis identifies 65 new breast cancer risk loci

Author

Michailidou, Kyriaki, Lindström, Sara, Dennis, Joe, Beesley, Jonathan, Hui, Shirley, Kar, Siddhartha, Lemaçon, Audrey, Soucy, Penny, Glubb, Dylan, Rostamianfar, Asha, Bolla, Manjeet K., Wang, Qin, Tyrer, Jonathan, Dicks, Ed, Lee, Andrew, Wang, Zhaoming, Allen, Jamie, Keeman, Renske, Eilber, Ursula, French, Juliet D., Qing Chen, Xiao, Fachal, Laura, McCue, Karen, McCart Reed, Amy E., Ghoussaini, Maya, Carroll, Jason S., Jiang, Xia, Finucane, Hilary, Adams, Marcia, Adank, Muriel A., Ahsan, Habibul, Aittomäki, Kristiina, Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Aronson, Kristan J., Arun, Banu, Auer, Paul L., Bacot, François, Barrdahl, Myrto, Baynes, Caroline, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bernstein, Leslie, Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Brand, Judith S., Brauch, Hiltrud, Brennan, Paul, Brenner, Hermann, Brinton, Louise, Broberg, Per, Brock, Ian W., Broeks, Annegien, Brooks-Wilson, Angela, Brucker, Sara Y., Brüning, Thomas, Burwinkel, Barbara, Butterbach, Katja, Cai, Qiuyin, Cai, Hui, Caldés, Trinidad, Canzian, Federico, Carracedo, Angel, Carter, Brian D., Castelao, Jose E., Chan, Tsun L., David Cheng, Ting-Yuan, Seng Chia, Kee, Choi, Ji-Yeob, Christiansen, Hans, Clarke, Christine L., Collée, Margriet, Conroy, Don M., Cordina-Duverger, Emilie, Cornelissen, Sten, Cox, David G., Cox, Angela, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Devilee, Peter, Doheny, Kimberly F., Dörk, Thilo, dos-Santos-Silva, Isabel, Dumont, Martine, Durcan, Lorraine, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Eliassen, A. Heather, Ellberg, Carolina, Elvira, Mingajeva, Engel, Christoph, Eriksson, Mikael, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Fritschi, Lin, Gaborieau, Valerie, Gabrielson, Marike, Gago-Dominguez, Manuela, Gao, Yu-Tang, Gapstur, Susan M., García-Sáenz, José A., Gaudet, Mia M., Georgoulias, Vassilios, Giles, Graham G., Glendon, Gord, Goldberg, Mark S., Goldgar, David E., González-Neira, Anna, Grenaker Alnæs, Grethe I., Grip, Mervi, Gronwald, Jacek, Grundy, Anne, Guénel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hamann, Ute, Hamel, Nathalie, Hankinson, Susan, Harrington, Patricia, Hart, Steven N., Hartikainen, Jaana M., Hartman, Mikael, Hein, Alexander, Heyworth, Jane, Hicks, Belynda, Hillemanns, Peter, Ho, Dona N., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Hou, Ming-Feng, Hsiung, Chia-Ni, Huang, Guanmengqian, Humphreys, Keith, Ishiguro, Junko, Ito, Hidemi, Iwasaki, Motoki, Iwata, Hiroji, Jakubowska, Anna, Janni, Wolfgang, John, Esther M., Johnson, Nichola, Jones, Kristine, Jones, Michael, Jukkola-Vuorinen, Arja, Kaaks, Rudolf, Kabisch, Maria, Kaczmarek, Katarzyna, Kang, Daehee, Kasuga, Yoshio, Kerin, Michael J., Khan, Sofia, Khusnutdinova, Elza, Kiiski, Johanna I., Kim, Sung-Won, Knight, Julia A., Kosma, Veli-Matti, Kristensen, Vessela N., Krüger, Ute, Kwong, Ava, Lambrechts, Diether, Le Marchand, Loic, Lee, Eunjung, Lee, Min Hyuk, Lee, Jong Won, Neng Lee, Chuen, Lejbkowicz, Flavio, Li, Jingmei, Lilyquist, Jenna, Lindblom, Annika, Lissowska, Jolanta, Lo, Wing-Yee, Loibl, Sibylle, Long, Jirong, Lophatananon, Artitaya, Lubinski, Jan, Luccarini, Craig, Lux, Michael P., Ma, Edmond S. K., MacInnis, Robert J., Maishman, Tom, Makalic, Enes, Malone, Kathleen E., Kostovska, Ivana Maleva, Mannermaa, Arto, Manoukian, Siranoush, Manson, JoAnn E., Margolin, Sara, Mariapun, Shivaani, Martinez, Maria Elena, Matsuo, Keitaro, Mavroudis, Dimitrios, McKay, James, McLean, Catriona, Meijers-Heijboer, Hanne, Meindl, Alfons, Menéndez, Primitiva, Menon, Usha, Meyer, Jeffery, Miao, Hui, Miller, Nicola, Taib, Nur Aishah Mohd, Muir, Kenneth, Mulligan, Anna Marie, Mulot, Claire, Neuhausen, Susan L., Nevanlinna, Heli, Neven, Patrick, Nielsen, Sune F., Noh, Dong-Young, Nordestgaard, Børge G., Norman, Aaron, Olopade, Olufunmilayo I., Olson, Janet E., Olsson, Håkan, Olswold, Curtis, Orr, Nick, Pankratz, V. Shane, Park, Sue K., Park-Simon, Tjoung-Won, Lloyd, Rachel, Perez, Jose I. A., Peterlongo, Paolo, Peto, Julian, Phillips, Kelly-Anne, Pinchev, Mila, Plaseska-Karanfilska, Dijana, Prentice, Ross, Presneau, Nadege, Prokofyeva, Darya, Pugh, Elizabeth, Pylkäs, Katri, Rack, Brigitte, Radice, Paolo, Rahman, Nazneen, Rennert, Gadi, Rennert, Hedy S., Rhenius, Valerie, Romero, Atocha, Romm, Jane, Ruddy, Kathryn J., Rüdiger, Thomas, Rudolph, Anja, Ruebner, Matthias, Rutgers, Emiel J. T., Saloustros, Emmanouil, Sandler, Dale P., Sangrajrang, Suleeporn, Sawyer, Elinor J., Schmidt, Daniel F., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., Schumacher, Fredrick, Schürmann, Peter, Scott, Rodney J., Scott, Christopher, Seal, Sheila, Seynaeve, Caroline, Shah, Mitul, Sharma, Priyanka, Shen, Chen-Yang, Sheng, Grace, Sherman, Mark E., Shrubsole, Martha J., Shu, Xiao-Ou, Smeets, Ann, Sohn, Christof, Southey, Melissa C., Spinelli, John J., Stegmaier, Christa, Stewart-Brown, Sarah, Stone, Jennifer, Stram, Daniel O., Surowy, Harald, Swerdlow, Anthony, Tamimi, Rulla, Taylor, Jack A., Tengström, Maria, Teo, Soo H., Beth Terry, Mary, Tessier, Daniel C., Thanasitthichai, Somchai, Thöne, Kathrin, Tollenaar, Rob A. E. M., Tomlinson, Ian, Tong, Ling, Torres, Diana, Truong, Thérèse, Tseng, Chiu-Chen, Tsugane, Shoichiro, Ulmer, Hans-Ulrich, Ursin, Giske, Untch, Michael, Vachon, Celine, van Asperen, Christi J., Van Den Berg, David, van den Ouweland, Ans M. W., van der Kolk, Lizet, van der Luijt, Rob B., Vincent, Daniel, Vollenweider, Jason, Waisfisz, Quinten, Wang-Gohrke, Shan, Weinberg, Clarice R., Wendt, Camilla, Whittemore, Alice S., Wildiers, Hans, Willett, Walter, Winqvist, Robert, Wolk, Alicja, Wu, Anna H., Xia, Lucy, Yamaji, Taiki, Yang, Xiaohong R., Har Yip, Cheng, Yoo, Keun-Young, Yu, Jyh-Cherng, Zheng, Wei, Zheng, Ying, Zhu, Bin, Ziogas, Argyrios, Ziv, Elad, Lakhani, Sunil R., Antoniou, Antonis C., Droit, Arnaud, Andrulis, Irene L., Amos, Christopher I., Couch, Fergus J., Pharoah, Paul D. P., Chang-Claude, Jenny, Hall, Per, Hunter, David J., Milne, Roger L., García-Closas, Montserrat, Schmidt, Marjanka K., Chanock, Stephen J., Dunning, Alison M., Edwards, Stacey L., Bader, Gary D., Chenevix-Trench, Georgia, Simard, Jacques, Kraft, Peter, and Easton, Douglas F.

Published
2017
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42. Genome-wide association study and functional follow-up identify 14q12 as a candidate risk locus for cervical cancer

Author

Ramachandran, Dhanya, Dennis, Joe, Fachal, Laura, Schürmann, Peter, Bousset, Kristine, Hülse, Fabienne, Mao, Qianqian, Wang, Yingying, Jentschke, Matthias, Böhmer, Gerd, Strauß, Hans-Georg, Hirchenhain, Christine, Schmidmayr, Monika, Müller, Florian, Runnebaum, Ingo, Hein, Alexander, Stübs, Frederik, Koch, Martin, Ruebner, Matthias, Beckmann, Matthias W, Fasching, Peter A, Luyten, Alexander, Dürst, Matthias, Hillemanns, Peter, Easton, Douglas F, Dörk, Thilo, Ramachandran, Dhanya [0000-0001-8139-7799], Dörk, Thilo [0000-0002-9458-0282], and Apollo - University of Cambridge Repository

Subjects
Papillomavirus Infections, Humans, Uterine Cervical Neoplasms, Female, Forkhead Transcription Factors, Genetic Predisposition to Disease, Nerve Tissue Proteins, Papillomaviridae, Polymorphism, Single Nucleotide, Follow-Up Studies, Genome-Wide Association Study
Abstract

Cervical cancer is among the leading causes of cancer-related death in females worldwide. Infection by human papillomavirus (HPV) is an established risk factor for cancer development. However, genetic factors contributing to disease risk remain largely unknown. We report on a genome-wide association study (GWAS) on 375 German cervical cancer patients and 866 healthy controls, followed by a replication study comprising 658 patients with invasive cervical cancer, 1361 with cervical dysplasia and 841 healthy controls. Functional validation was performed for the top GWAS variant on chromosome 14q12 (rs225902, close to PRKD1). After bioinformatic annotation and in silico predictions, we performed transcript analysis in a cervical tissue series of 317 samples and demonstrate rs225902 as an expression quantitative trait locus (eQTL) for FOXG1 and two tightly co-regulated long non-coding RNAs at this genomic region, CTD-2251F13 (lnc-PRKD1-1) and CTD-2503I6 (lnc-FOXG1-6). We also show allele-specific effects of the 14q12 variants via luciferase assays. We propose a combined effect of genotype, HPV status and gene expression at this locus on cervical cancer progression. Taken together, this work uncovers a potential candidate locus with regulatory functions and contributes to the understanding of genetic susceptibility to cervical cancer.

Published
2022

50. Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants

Author

Mavaddat, Nasim, Pharoah, Paul D. P., Michailidou, Kyriaki, Tyrer, Jonathan, Brook, Mark N., Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Dunning, Alison M., Shah, Mitul, Luben, Robert, Brown, Judith, Bojesen, Stig E., Nordestgaard, Børge G., Nielsen, Sune F., Flyger, Henrik, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Peto, Julian, dos-Santos-Silva, Isabel, Dudbridge, Frank, Johnson, Nichola, Schmidt, Marjanka K., Broeks, Annegien, Verhoef, Senno, Rutgers, Emiel J., Swerdlow, Anthony, Ashworth, Alan, Orr, Nick, Schoemaker, Minouk J., Figueroa, Jonine, Chanock, Stephen J., Brinton, Louise, Lissowska, Jolanta, Couch, Fergus J., Olson, Janet E., Vachon, Celine, Pankratz, Vernon S., Lambrechts, Diether, Wildiers, Hans, Van Ongeval, Chantal, van Limbergen, Erik, Kristensen, Vessela, Grenaker Alnæs, Grethe, Nord, Silje, Borresen-Dale, Anne-Lise, Nevanlinna, Heli, Muranen, Taru A., Aittomäki, Kristiina, Blomqvist, Carl, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Fasching, Peter A., Haeberle, Lothar, Ekici, Arif B., Beckmann, Matthias W., Burwinkel, Barbara, Marme, Frederik, Schneeweiss, Andreas, Sohn, Christof, Trentham-Dietz, Amy, Newcomb, Polly, Titus, Linda, Egan, Kathleen M., Hunter, David J., Lindstrom, Sara, Tamimi, Rulla M., Kraft, Peter, Rahman, Nazneen, Turnbull, Clare, Renwick, Anthony, Seal, Sheila, Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Benitez, Javier, Pilar Zamora, M., Arias Perez, Jose Ignacio, Menéndez, Primitiva, Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Bogdanova, Natalia V., Antonenkova, Natalia N., Dörk, Thilo, Anton-Culver, Hoda, Neuhausen, Susan L., Ziogas, Argyrios, Bernstein, Leslie, Devilee, Peter, Tollenaar, Robert A. E. M., Seynaeve, Caroline, van Asperen, Christi J., Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Khusnutdinova, Elza, Bermisheva, Marina, Prokofyeva, Darya, Takhirova, Zalina, Meindl, Alfons, Schmutzler, Rita K., Sutter, Christian, Yang, Rongxi, Schürmann, Peter, Bremer, Michael, Christiansen, Hans, Park-Simon, Tjoung-Won, Hillemanns, Peter, Guénel, Pascal, Truong, Thérèse, Menegaux, Florence, Sanchez, Marie, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Pensotti, Valeria, Hopper, John L., Tsimiklis, Helen, Apicella, Carmel, Southey, Melissa C., Brauch, Hiltrud, Brüning, Thomas, Ko, Yon-Dschun, Sigurdson, Alice J., Doody, Michele M., Hamann, Ute, Torres, Diana, Ulmer, Hans-Ulrich, Försti, Asta, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Marie Mulligan, Anna, Chenevix-Trench, Georgia, Balleine, Rosemary, Giles, Graham G., Milne, Roger L., McLean, Catriona, Lindblom, Annika, Margolin, Sara, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Eilber, Ursula, Wang-Gohrke, Shan, Hooning, Maartje J., Hollestelle, Antoinette, van den Ouweland, Ans M. W., Koppert, Linetta B., Carpenter, Jane, Clarke, Christine, Scott, Rodney, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Brenner, Hermann, Arndt, Volker, Stegmaier, Christa, Karina Dieffenbach, Aida, Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Offit, Kenneth, Vijai, Joseph, Robson, Mark, Rau-Murthy, Rohini, Dwek, Miriam, Swann, Ruth, Annie Perkins, Katherine, Goldberg, Mark S., Labrèche, France, Dumont, Martine, Eccles, Diana M., Tapper, William J., Rafiq, Sajjad, John, Esther M., Whittemore, Alice S., Slager, Susan, Yannoukakos, Drakoulis, Toland, Amanda E., Yao, Song, Zheng, Wei, Halverson, Sandra L., González-Neira, Anna, Pita, Guillermo, Rosario Alonso, M., Álvarez, Nuria, Herrero, Daniel, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Maranian, Mel, Healey, Catherine S., Simard, Jacques, Hall, Per, Easton, Douglas F., and Garcia-Closas, Montserrat

Published
2015
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