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5 results on '"Valerie Gaborieau"'

1. The chromosome 2p21 region harbors a complex genetic architecture for association with risk for renal cell carcinoma

Author

Susan M. Gapstur, Michael J. Thun, Victoria L. Stevens, Robert L. Grubb, Lee E. Moore, Summer S. Han, Kendra L. Schwartz, Philip S. Rosenberg, Mattias Johansson, Valerie Gaborieau, Ruth M. Pfeiffer, Jarmo Virtamo, Dana Mates, Lenka Foretova, Stephanie J. Weinstein, Paolo Boffetta, Christine D. Berg, Marie Navratilova, Mark P. Purdue, Vladimir Janout, Meredith Yeager, Demetrius Albanes, Ghislaine Scelo, Faith G. Davis, Ming Hui Wei, Wong Ho Chow, Ousmane Toure, James D. McKay, Jorge R. Toro, Margaret A. Tucker, Stephen J. Chanock, Vladimir Bencko, Nilanjan Chatterjee, W. Ryan Diver, Nathaniel Rothman, Joanne S. Colt, David Zaridze, Paul Brennan, Laurie Burdett, Vsevolod Matveev, Antonin Brisuda, Joseph F. Fraumeni, Neonilia Szeszenia-Dabrowska, Charles C. Chung, Han, S.S., Yeager, M., Moore, L.E., Wei, M.-H., Pfeiffer, R., Toure, O., Purdue, M.P., Johansson, M., Scelo, G., Chung, C.C., Gaborieau, V., Zaridze, D., Schwartz, K., Szeszenia-Dabrowska, N., Davis, F., Bencko, V., Colt, J.S., Janout, V., Matveev, V., Foretova, L., Mates, D., Navratilova, M., Boffetta, P., Berg, C.D., Grubb, R.L., Stevens, V.L., Thun, M.J., Diver, W.R., Gapstur, S.M., Albanes, D., Weinstein, S.J., Virtamo, J., Burdett, L., Brisuda, A., McKay, J.D., Fraumeni, J.F., Chatterjee, N., Rosenberg, P.S., Rothman, N., Brennan, P., Chow, W.-H., Tucker, M.A., Chanock, S.J., and Toro, J.R.

Subjects
Male, Genotype, Genome-wide association study, Single-nucleotide polymorphism, Locus (genetics), HapMap Project, Biology, Chromosome, Polymorphism, Single Nucleotide, Odds Ratio, Basic Helix-Loop-Helix Transcription Factors, Genetics, Humans, Genetic Predisposition to Disease, 1000 Genomes Project, International HapMap Project, Carcinoma, Renal Cell, Molecular Biology, Genetics (clinical), Allele, Genome, Association Studies Articles, Smoking, Haplotype, Renal Cell Carcinoma, Chromosome Mapping, General Medicine, Kidney Neoplasms, Haplotypes, Case-Control Studies, Chromosomes, Human, Pair 2, Single Nucleotide Polymorphism, Female, Confidence Interval, Imputation (genetics), Genome-Wide Association Study
Abstract

In follow-up of a recent genome-wide association study (GWAS) that identified a locus in chromosome 2p21 associated with risk for renal cell carcinoma (RCC), we conducted a fine mapping analysis of a 120 kb region that includes EPAS1. We genotyped 59 tagged common single-nucleotide polymorphisms (SNPs) in 2278 RCC and 3719 controls of European background and observed a novel signal for rs9679290 [P=5 5.75× 3 10 -8, per-allele odds ratio (OR) = 1.27, 95% confidence interval (CI): 1.17-1.39]. Imputation of common SNPs surrounding rs9679290 using HapMap 3 and 1000 Genomes data yielded two additional signals, rs4953346 (P = 4.09 × 10 -14) and rs12617313 (P = 7.48 × 10 -12), both highly correlated withrs9679290 (r 2 > 0.95), but interestingly not correlated with the two SNPs reported in the GWAS: rs11894252 and rs7579899 (r 2 < 0.1 with rs9679290). Genotype analysis of rs12617313 confirmed an association with RCC risk (P = 1.72 × 10 -9, per-allele OR = 1.28, 95% CI: 1.18-1.39) In conclusion, we report that chromosome 2p21 harbors a complex genetic architecture for common RCC risk variants. Published by Oxford University Press 2011.

Published
2011
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2. Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium

Author

Peter Hillemanns, Mark E. Robson, Roger L. Milne, Amanda B. Spurdle, Rob A. E. M. Tollenaar, Federik Marme, Michael Bremer, Jan Lubinski, Linda Titus-Ernstoff, Kamila Czene, Stephen J. Chanock, Mervi Grip, Graham G. Giles, Penny Webb, G. Chenevix-Trench, Natalia Bogdanova, John L. Hopper, Frances P. O'Malley, Arto Mannermaa, Mark E. Sherman, Chen-Yang Shen, Suleeporn Sangrajrang, Julian Peto, Irene L. Andrulis, Yuri I. Rogov, Annika Lindblom, Børge G. Nordestgaard, James McKay, Barbara Burwinkel, M. Pilar Zamora, José Ignacio Arias, Beate Pesch, Vijai Joseph, Shamil Hanafievich Gantcev, Fergus J. Couch, Dong Young Noh, Betül T. Yesilyurt, Jenny Chang-Claude, Ute Hamann, Vesa Kataja, Sara Margolin, Thilo Dörk, Katarzyna Jaworska, Yon Ko, Nichola Johnson, Hiltrud Brauch, Matthias W. Beckmann, Heli Nevanlinna, Malcolm W.R. Reed, Melissa C. Southey, Arif B. Ekici, Jolanta Lissowska, Isabel dos Santos Silva, Johann H. Karstens, Robert Winqvist, Shian Ling Ding, Stig E. Bojesen, Ian Tomlinson, Anna Marie Mulligan, Montserrat Garcia-Closas, Volker Harth, Katarzyna Durda, Valerie Gaborieau, Tuomas Heikkinen, Thomas Brüning, Mia M. Gaudet, Monica Barile, Sylvia Rabstein, Christina Justenhoven, Anna Jakubowska, Paul D.P. Pharoah, Jonathan Beesley, Hermann Brenner, Elza Khusnutdinova, Heiko Müller, Jyh Cherng Yu, Adam M. Lee, Paolo Peterlongo, Clare Turnbull, Doug Easton, Radka Platte, Keun-Young Yoo, J. Margriet Collée, Paolo Radice, Laura Baglietto, Sei Hyun Ahn, Paul Brennan, Olivia Fletcher, Fleur Hammet, Ans M.W. van den Ouweland, Catriona Maclean, Carl Blomqvist, Sheila Seal, Peter Schürmann, Natalia Antonenkova, Katri Pylkäs, Angela Cox, Kenneth Offit, Huan Ming Hsu, Arja Jukkola-Vuorinen, Maartje J. Hooning, Peter A. Fasching, Alison M. Dunning, Nick Orr, Volker Arndt, Javier Benitez, Diether Lambrechts, Robert B. Diasio, Manjeet K. Humphreys, Ian W. Brock, Marjanka K. Schmidt, Per Hall, Hoda Anton-Culver, Anthony J. Swerdlow, Jonine D. Figueroa, Julia A. Knight, Ylermi Soini, Alan Ashworth, Veli-Matti Kosma, Anna deFazio, Reiner Strick, Darya Prokofieva, Shan Wang-Gohrke, Polly A. Newcomb, Dorota M. Gertig, Henrik Flyger, David D.L. Bowtell, Laura J. van't Veer, John W.M. Martens, Carmel Apicella, Anthony Renwick, Andreas Schneeweiss, Michael J. Kerin, Christian Baisch, Xianshu Wang, Kathleen Egan, Argyrios Ziogas, A. Green, Marina Bermisheva, Christof Sohn, Stéphanie Peeters, Daehee Kang, Rebecca Hein, Nazneen Rahman, Annegien Broeks, Georgia Chenevix-Trench, Elinor J. Sawyer, Louise A. Brinton, Michael Jones, Xiaoqing Chen, Kristiina Aittomäki, Esther M. John, Siranoush Manoukian, Hand Peter Fischer, Amy Trentham-Dietz, Simon S. Cross, Marie Rose Chrisiaens, Gianluca Severi, Medical Oncology, and Clinical Genetics

Subjects
Oncology, Receptor, ErbB-2, 6q25.1, Estrogen receptor, Genome-wide association study, Alleles, Breast Neoplasms, Case-Control Studies, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 14, Confidence Intervals, DNA-Binding Proteins, Female, Genetic Heterogeneity, Genetic Predisposition to Disease, Humans, Odds Ratio, Polymorphism, Single Nucleotide, Receptors, Estrogen, Receptors, Progesterone, Risk Factors, Genome-Wide Association Study, Molecular Biology, Genetics, Genetics (clinical), brca1, 0302 clinical medicine, ErbB-2, Receptors, glucose, mutation carriers, Progesterone, 0303 health sciences, Association Studies Articles, General Medicine, Single Nucleotide, 3. Good health, 030220 oncology & carcinogenesis, Pair 1, metaanalysis, Human, Receptor, medicine.medical_specialty, Single-nucleotide polymorphism, Biology, Chromosomes, 03 medical and health sciences, Breast cancer, SDG 3 - Good Health and Well-being, Internal medicine, medicine, SNP, Polymorphism, 030304 developmental biology, Genetic heterogeneity, Pair 14, Case-control study, Odds ratio, confer susceptibility, medicine.disease, Estrogen, susceptibility loci, Immunology, genome-wide association, polymorphisms
Abstract

A genome-wide association study (GWAS) identified single-nucleotide polymorphisms (SNPs) at 1p11.2 and 14q24.1 (RAD51L1) as breast cancer susceptibility loci. The initial GWAS suggested stronger effects for both loci for estrogen receptor (ER)-positive tumors. Using data from the Breast Cancer Association Consortium (BCAC), we sought to determine whether risks differ by ER, progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2), grade, node status, tumor size, and ductal or lobular morphology. We genotyped rs11249433 at 1p.11.2, and two highly correlated SNPs rs999737 and rs10483813 (r(2) = 0.98) at 14q24.1 (RAD51L1), for up to 46 036 invasive breast cancer cases and 46 930 controls from 39 studies. Analyses by tumor characteristics focused on subjects reporting to be white women of European ancestry and were based on 25 458 cases, of which 87% had ER data. The SNP at 1p11.2 showed significantly stronger associations with ER-positive tumors [per-allele odds ratio (OR) for ER-positive tumors was 1.13, 95% CI = 1.10-1.16 and, for ER-negative tumors, OR was 1.03, 95% CI = 0.98-1.07, case-only P-heterogeneity = 7.6 x 10 25]. The association with ER-positive tumors was stronger for tumors of lower grade (case-only P = 6.7 x 10 23) and lobular histology (case-only P = 0.01). SNPs at 14q24.1 were associated with risk for most tumor subtypes evaluated, including triple-negative breast cancers, which has not been described previously. Our results underscore the need for large pooling efforts with tumor pathology data to help refine risk estimates for SNP associations with susceptibility to different subtypes of breast cancer.

Published
2011
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3. Genome-wide association study of HPV seropositivity

Author

José Eluf-Neto, Michael Pawlita, Paul Brennan, Valerie Gaborieau, Anne Boland, Gary M. Clifford, Eleonora Fabianova, Leticia Fernández Garrote, Victor Wünsch-Filho, Dan Chen, Lenka Foretova, Peter Rudnai, Ana M. B. Menezes, Neonila Szeszenia-Dabrowska, Maria Paula Curado, Vladimir Bencko, Vladimir Janout, Jolanta Lissowska, Tim Waterboer, David Zaridze, Paolo Boffetta, Amelie Chabrier, Mark Lathrop, Ioan Nicolae Mates, Elena Matos, Diana Zelenika, James McKay, Sergio Koifman, Chen, D., McKay, J.D., Clifford, G., Gaborieau, V., Chabrier, A., Waterboer, T., Zaridze, D., Lissowska, J., Rudnai, P., Fabianova, E., Bencko, V., Janout, V., Foretova, L., Mates, I.N., Szeszenia-Dabrowska, N., Curado, M.P., Koifman, S., Menezes, A., Wünsch-Filho, V., Eluf-Neto, J., Garrote, L.F., Matos, E., Zelenika, D., Boland, A., Boffetta, P., Pawlita, M., Lathrop, M., and Brennan, P.

Subjects
HPV, Single-nucleotide polymorphism, Genome-wide association study, Biology, HIV Antibodies, Polymorphism, Single Nucleotide, White People, Major Histocompatibility Complex, HIV Seropositivity, Genetics, medicine, Humans, Seroconversion, Molecular Biology, Genetics (clinical), Cervical cancer, seropositivity, Head and neck cancer, HPV infection, Reproducibility of Results, General Medicine, medicine.disease, Minor allele frequency, Immunology, Skin cancer, Genome-Wide Association Study
Abstract

High-risk a mucosal types of human papillomavirus (HPV) cause anogenital and oropharyngeal cancers,whereas b cutaneous HPV types (e.g. HPV8) have been implicated in non-melanoma skin cancer. Although antibodies against the capsid protein L1 of HPV are considered asmarkers of cumulative exposure, not all infected persons seroconvert. To identify common genetic variants that influence HPV seroconversion,we performed a two-stage genome-wide association study. Genome-wide genotyping of 316 015 single nucleotide polymorphisms was carried out using the Illumina HumanHap300 BeadChip in 4811 subjects froma central European case-control study of lung, head and neck and kidney cancer that had serology data available on 13 HPV types. Only one association met genome-wide significance criteria, namely that between HPV8 seropositivity and rs9357152 [odds ratio (OR) = 1.37, 95% confidence interval (CI) = 1.24-1.50 for theminor allele G; P = 1.2 × 10 -10], a common genetic variant (minor allele frequency = 0.33) located within the major histocompatibility complex (MHC) II region at 6p21.32. This association was subsequently replicated in an independent set of 2344 subjects from a Latin American case-control study of head and neck cancer (OR = 1.35, 95% CI = 1.18-1.56, P = 2.2 × 10 -5), yielding P = 1.3 × 10 -14 in the combined analysis (P-heterogeneity 5 0.87). No heterogeneity was noted by cancer status(controls/lung cancer cases/head and neck cancer cases/kidney cancer cases). This study provides a proof of principle that genetic variation plays a role in antibody reactivity to HPV infection. © The Author 2011. Published by Oxford University Press. All rights reserved.

Published
2011

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

Author

Graham G. Giles, Sandrine Tchatchou, Bart Claes, Fergus J. Couch, Douglas F. Easton, Simon S. Cross, Manjeet K. Humphreys, Irene L. Andrulis, Annika Lindblom, Paul Brennan, Bahar Ozturk, Marjanka K. Schmidt, Ute Hamann, Carlos Caldas, Thomas Löning, Alexander Hein, Peter Hillemanns, Roger L. Milne, Matti Eskelinen, Melissa C. Southey, Patrick Neven, Rob A. E. M. Tollenaar, Giu-Cheng Hsu, Päivi Heikkilä, Jonathan Beesley, Keith Humphreys, Malcolm W.R. Reed, Hiltrud Brauch, Valerie Gaborieau, Laurence N. Kolonel, Alison M. Dunning, Sabapathy P. Balasubramanian, Jianjun Liu, Diljit Kaur-Knudsen, Anna Jakubowska, Paul D.P. Pharoah, Geert J.L.H. van Leenders, Matthew L. Kosel, Angela Cox, Christopher A. Haiman, Aocs, Arif B. Ekici, Peter A. Fasching, Ruediger Schulz-Wendtland, Anne Lise Børresen-Dale, Loic Le Marchand, Maartje J. Hooning, Fleur Hammet, Christof Sohn, Gillian S. Dite, Yon-Dschun Ko, Sebastian M. Jud, Per Hall, Mark E. Sherman, Jaana M. Kauppinen, Bohdan Górski, Dieter Flesch-Janys, Fiona M. Blows, Sara Margolin, Jacek Gronwald, Jonine D. Figueroa, Amanda B. Spurdle, Thilo Dörk, Javier Benitez, Catriona McLean, Chia-Ni Hsiung, Matthias W. Beckmann, Ylermi Soini, kConFab, Frederik Marmé, Georgia Chenevix-Trench, David Dynnes Ørsted, Johann H. Karstens, Hoda Anton-Culver, Veli-Matti Kosma, Christi J. van Asperen, Montserrat Garcia-Closas, Annegien Broeks, Arto Mannermaa, Thomas Brüning, Jenny Chang-Claude, Xiaoqing Chen, Päivi Auvinen, Carl Blomqvist, David J. Hunter, Anna Marie Mulligan, Kristiina Aittomäki, Michael Bremer, Renate de Groot, Shou-Tung Chen, Kirsimari Aaltonen, Beate Pesch, Helene Holland, Susan E. Hankinson, Kamila Czene, Jan Lubinski, Mieke Kriege, Ming-Feng Hou, Vesa Kataja, John L. Hopper, Diether Lambrechts, Carmel Apicella, Petra E A Huijts, Brian E. Henderson, Laura Baglietto, Rebecca Hein, Helen Cramp, Frances P. O'Malley, Arndt Hartmann, Grethe I. Grenaker Alnæs, Louise A. Brinton, Jyh-Cherng Yu, Primitiva Menéndez Rodríguez, T. Vandorpe, Elena Provenzano, Peter Devilee, Tomasz Byrski, Heli Nevanlinna, Stig E. Bojesen, Tuomas Heikkinen, Jolanta Lissowska, Beata Peplonska, Argyrios Ziogas, Christina Justenhoven, Tomasz Huzarski, Zachary S. Fredericksen, Agnes Jager, Caroline Seynaeve, Chiun-Sheng Huang, Vessela N. Kristensen, Daniel Connley, Børge G. Nordestgaard, Barbara Burwinkel, Vincent T.H.B.M. Smit, Kristy Driver, Antoinette Hollestelle, Letitia D. Smith, Stephen J. Chanock, Hans-Peter Sinn, Chen-Yang Shen, Suleeporn Sangrajrang, Andreas Schneeweiss, Rogier A. Oldenburg, Jose Ignacio Arias Perez, Xiaohong R. Yang, Henrik Flyger, Hans-Peter Fischer, Pilar Zamora, Laura J. van't Veer, Xianshu Wang, Cezary Cybulski, Hans Wildiers, Shan Wang-Gohrke, Gianluca Severi, Medical Oncology, Clinical Genetics, and Pathology

Subjects
Oncology, Candidate gene, Receptor, ErbB-2, Estrogen receptor, Genome-wide association study, Penetrance, Bioinformatics, 0302 clinical medicine, ErbB-2, Risk Factors, Receptors, Odds Ratio, Asian Continental Ancestry Group, Biomarkers, Tumor, Breast Neoplasms, European Continental Ancestry Group, Female, Genetic Loci, Humans, Receptors, Estrogen, Receptors, Progesterone, Genetic Predisposition to Disease, Molecular Biology, Genetics, Genetics (clinical), Progesterone, 0303 health sciences, education.field_of_study, Tumor, Association Studies Articles, General Medicine, 3. Good health, Risk factors for breast cancer, 030220 oncology & carcinogenesis, Receptor, medicine.medical_specialty, Population, Biology, Auto-immunity, transplantation and immunotherapy [N4i 4], White People, 03 medical and health sciences, Breast cancer, SDG 3 - Good Health and Well-being, Asian People, Internal medicine, medicine, education, 030304 developmental biology, medicine.disease, Estrogen, TOX3, Biomarkers
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

5. FGFR2 variants and breast cancer risk: fine-scale mapping using African American studies and analysis of chromatin conformation

Author

Laurence N. Kolonel, Michael F. Press, Stewart MacArthur, Valerie Gaborieau, Paul D.P. Pharoah, Sei Hyun Ahn, Kathleen E. Malone, Jonathan Tyrer, Alison M. Dunning, Robert Luben, Daehee Kang, Douglas F. Easton, Dong-Young Noh, Chen-Yang Shen, Suleeporn Sangrajrang, Keun-Young Yoo, Miriam S. Udler, Bruce A.J. Ponder, Leslie Bernstein, David R. Doody, Jinghui Zhang, Brian E. Henderson, Loic Le Marchand, Kerstin B. Meyer, Jeffery P. Struewing, Giske Ursin, Paul Brennan, Fabrice Odefrey, Elaine A. Ostrander, Pei-Ei Wu, Karen A. Pooley, Eric Karlins, Hui-Chun Wang, and Christopher A. Haiman

Subjects
Adult, Linkage disequilibrium, Genome-wide association study, Single-nucleotide polymorphism, Breast Neoplasms, Biology, Polymorphism, Single Nucleotide, Young Adult, Cell Line, Tumor, Genotype, Genetics, SNP, Humans, Genetic Predisposition to Disease, Receptor, Fibroblast Growth Factor, Type 2, Molecular Biology, Genetics (clinical), Genetic association, Aged, Aged, 80 and over, Association Studies Articles, Case-control study, General Medicine, Odds ratio, Middle Aged, Chromatin, Black or African American, Case-Control Studies, Female
Abstract

Genome-wide association studies have identified FGFR2 as a breast cancer (BC) susceptibility gene in populations of European and Asian descent, but a causative variant has not yet been conclusively identified. We hypothesized that the weaker linkage disequilibrium across this associated region in populations of African ancestry might help refine the set of candidate-causal single nucleotide polymorphisms (SNPs) previously identified by our group. Eight candidate-causal SNPs were evaluated in 1253 African American invasive BC cases and 1245 controls. A significant association with BC risk was found with SNP rs2981578 (unadjusted per-allele odds ratio = 1.20, 95% confidence interval 1.03-1.41, P(trend) = 0.02), with the odds ratio estimate similar to that reported in European and Asian subjects. To extend the fine-mapping, genotype data from the African American studies were analyzed jointly with data from European (n = 7196 cases, 7275 controls) and Asian (n = 3901 cases, 3205 controls) studies. In the combined analysis, SNP rs2981578 was the most strongly associated. Five other SNPs were too strongly correlated to be excluded at a likelihood ratio of < 1/100 relative to rs2981578. Analysis of DNase I hypersensitive sites indicated that only two of these map to highly accessible chromatin, one of which, SNP rs2981578, has previously been implicated in up-regulating FGFR2 expression. Our results demonstrate that the association of SNPs in FGFR2 with BC risk extends to women of African American ethnicity, and illustrate the utility of combining association analysis in datasets of diverse ethnic groups with functional experiments to identify disease susceptibility variants.

Published
2009

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