dc.contributor.author | Darabi, H | |
dc.contributor.author | Beesley, J | |
dc.contributor.author | Droit, A | |
dc.contributor.author | Kar, S | |
dc.contributor.author | Nord, S | |
dc.contributor.author | Moradi Marjaneh, M | |
dc.contributor.author | Soucy, P | |
dc.contributor.author | Michailidou, K | |
dc.contributor.author | Ghoussaini, M | |
dc.contributor.author | Fues Wahl, H | |
dc.contributor.author | Bolla, MK | |
dc.contributor.author | Wang, Q | |
dc.contributor.author | Dennis, J | |
dc.contributor.author | Alonso, MR | |
dc.contributor.author | Andrulis, IL | |
dc.contributor.author | Anton-Culver, H | |
dc.contributor.author | Arndt, V | |
dc.contributor.author | Beckmann, MW | |
dc.contributor.author | Benitez, J | |
dc.contributor.author | Bogdanova, NV | |
dc.contributor.author | Bojesen, SE | |
dc.contributor.author | Brauch, H | |
dc.contributor.author | Brenner, H | |
dc.contributor.author | Broeks, A | |
dc.contributor.author | Brüning, T | |
dc.contributor.author | Burwinkel, B | |
dc.contributor.author | Chang-Claude, J | |
dc.contributor.author | Choi, J-Y | |
dc.contributor.author | Conroy, DM | |
dc.contributor.author | Couch, FJ | |
dc.contributor.author | Cox, A | |
dc.contributor.author | Cross, SS | |
dc.contributor.author | Czene, K | |
dc.contributor.author | Devilee, P | |
dc.contributor.author | Dörk, T | |
dc.contributor.author | Easton, DF | |
dc.contributor.author | Fasching, PA | |
dc.contributor.author | Figueroa, J | |
dc.contributor.author | Fletcher, O | |
dc.contributor.author | Flyger, H | |
dc.contributor.author | Galle, E | |
dc.contributor.author | García-Closas, M | |
dc.contributor.author | Giles, GG | |
dc.contributor.author | Goldberg, MS | |
dc.contributor.author | González-Neira, A | |
dc.contributor.author | Guénel, P | |
dc.contributor.author | Haiman, CA | |
dc.contributor.author | Hallberg, E | |
dc.contributor.author | Hamann, U | |
dc.contributor.author | Hartman, M | |
dc.contributor.author | Hollestelle, A | |
dc.contributor.author | Hopper, JL | |
dc.contributor.author | Ito, H | |
dc.contributor.author | Jakubowska, A | |
dc.contributor.author | Johnson, N | |
dc.contributor.author | Kang, D | |
dc.contributor.author | Khan, S | |
dc.contributor.author | Kosma, V-M | |
dc.contributor.author | Kriege, M | |
dc.contributor.author | Kristensen, V | |
dc.contributor.author | Lambrechts, D | |
dc.contributor.author | Le Marchand, L | |
dc.contributor.author | Lee, SC | |
dc.contributor.author | Lindblom, A | |
dc.contributor.author | Lophatananon, A | |
dc.contributor.author | Lubinski, J | |
dc.contributor.author | Mannermaa, A | |
dc.contributor.author | Manoukian, S | |
dc.contributor.author | Margolin, S | |
dc.contributor.author | Matsuo, K | |
dc.contributor.author | Mayes, R | |
dc.contributor.author | McKay, J | |
dc.contributor.author | Meindl, A | |
dc.contributor.author | Milne, RL | |
dc.contributor.author | Muir, K | |
dc.contributor.author | Neuhausen, SL | |
dc.contributor.author | Nevanlinna, H | |
dc.contributor.author | Olswold, C | |
dc.contributor.author | Orr, N | |
dc.contributor.author | Peterlongo, P | |
dc.contributor.author | Pita, G | |
dc.contributor.author | Pylkäs, K | |
dc.contributor.author | Rudolph, A | |
dc.contributor.author | Sangrajrang, S | |
dc.contributor.author | Sawyer, EJ | |
dc.contributor.author | Schmidt, MK | |
dc.contributor.author | Schmutzler, RK | |
dc.contributor.author | Seynaeve, C | |
dc.contributor.author | Shah, M | |
dc.contributor.author | Shen, C-Y | |
dc.contributor.author | Shu, X-O | |
dc.contributor.author | Southey, MC | |
dc.contributor.author | Stram, DO | |
dc.contributor.author | Surowy, H | |
dc.contributor.author | Swerdlow, A | |
dc.contributor.author | Teo, SH | |
dc.contributor.author | Tessier, DC | |
dc.contributor.author | Tomlinson, I | |
dc.contributor.author | Torres, D | |
dc.contributor.author | Truong, T | |
dc.contributor.author | Vachon, CM | |
dc.contributor.author | Vincent, D | |
dc.contributor.author | Winqvist, R | |
dc.contributor.author | Wu, AH | |
dc.contributor.author | Wu, P-E | |
dc.contributor.author | Yip, CH | |
dc.contributor.author | Zheng, W | |
dc.contributor.author | Pharoah, PDP | |
dc.contributor.author | Hall, P | |
dc.contributor.author | Edwards, SL | |
dc.contributor.author | Simard, J | |
dc.contributor.author | French, JD | |
dc.contributor.author | Chenevix-Trench, G | |
dc.contributor.author | Dunning, AM | |
dc.date.accessioned | 2016-09-28T09:45:12Z | |
dc.date.issued | 2016-09-07 | |
dc.identifier.citation | Scientific reports, 2016, 6 pp. 32512 - ? | |
dc.identifier.issn | 2045-2322 | |
dc.identifier.uri | https://repository.icr.ac.uk/handle/internal/124 | |
dc.identifier.eissn | 2045-2322 | |
dc.identifier.doi | 10.1038/srep32512 | |
dc.description.abstract | Genome-wide association studies have found SNPs at 17q22 to be associated with breast cancer risk. To identify potential causal variants related to breast cancer risk, we performed a high resolution fine-mapping analysis that involved genotyping 517 SNPs using a custom Illumina iSelect array (iCOGS) followed by imputation of genotypes for 3,134 SNPs in more than 89,000 participants of European ancestry from the Breast Cancer Association Consortium (BCAC). We identified 28 highly correlated common variants, in a 53 Kb region spanning two introns of the STXBP4 gene, that are strong candidates for driving breast cancer risk (lead SNP rs2787486 (OR = 0.92; CI 0.90-0.94; P = 8.96 × 10(-15))) and are correlated with two previously reported risk-associated variants at this locus, SNPs rs6504950 (OR = 0.94, P = 2.04 × 10(-09), r(2) = 0.73 with lead SNP) and rs1156287 (OR = 0.93, P = 3.41 × 10(-11), r(2) = 0.83 with lead SNP). Analyses indicate only one causal SNP in the region and several enhancer elements targeting STXBP4 are located within the 53 kb association signal. Expression studies in breast tumor tissues found SNP rs2787486 to be associated with increased STXBP4 expression, suggesting this may be a target gene of this locus. | |
dc.format | Electronic | |
dc.format.extent | 32512 - ? | |
dc.language | eng | |
dc.language.iso | eng | |
dc.publisher | NATURE PORTFOLIO | |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0 | |
dc.subject | Chromosomes, Human, Pair 17 | |
dc.subject | Humans | |
dc.subject | Breast Neoplasms | |
dc.subject | Genetic Predisposition to Disease | |
dc.subject | Vesicular Transport Proteins | |
dc.subject | Chromosome Mapping | |
dc.subject | Genotype | |
dc.subject | Polymorphism, Single Nucleotide | |
dc.subject | Quantitative Trait Loci | |
dc.subject | European Continental Ancestry Group | |
dc.subject | Female | |
dc.subject | Genome-Wide Association Study | |
dc.title | Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs). | |
dc.type | Journal Article | |
dcterms.dateAccepted | 2016-08-03 | |
rioxxterms.versionofrecord | 10.1038/srep32512 | |
rioxxterms.licenseref.uri | https://creativecommons.org/licenses/by/4.0 | |
rioxxterms.licenseref.startdate | 2016-09-07 | |
rioxxterms.type | Journal Article/Review | |
dc.relation.isPartOf | Scientific reports | |
pubs.notes | No embargo | |
pubs.organisational-group | /ICR | |
pubs.organisational-group | /ICR/Primary Group | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Breast Cancer Research | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Breast Cancer Research/Aetiological Epidemiology | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Breast Cancer Research/Complex Trait Genetics | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Breast Cancer Research/Functional Genetic Epidemiology | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Genetics and Epidemiology | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Aetiological Epidemiology | |
pubs.organisational-group | /ICR | |
pubs.organisational-group | /ICR/Primary Group | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Breast Cancer Research | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Breast Cancer Research/Aetiological Epidemiology | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Breast Cancer Research/Complex Trait Genetics | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Breast Cancer Research/Functional Genetic Epidemiology | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Genetics and Epidemiology | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Aetiological Epidemiology | |
pubs.publication-status | Published | |
pubs.volume | 6 | |
pubs.embargo.terms | No embargo | |
pubs.oa-location | http://www.ncbi.nlm.nih.gov/pubmed/27600471 | |
icr.researchteam | Complex Trait Genetics | |
icr.researchteam | Functional Genetic Epidemiology | |
icr.researchteam | Aetiological Epidemiology | |
dc.contributor.icrauthor | Fletcher, Olivia | |
dc.contributor.icrauthor | Swerdlow, Anthony | |