dc.contributor.author | Horne, HN | |
dc.contributor.author | Chung, CC | |
dc.contributor.author | Zhang, H | |
dc.contributor.author | Yu, K | |
dc.contributor.author | Prokunina-Olsson, L | |
dc.contributor.author | Michailidou, K | |
dc.contributor.author | Bolla, MK | |
dc.contributor.author | Wang, Q | |
dc.contributor.author | Dennis, J | |
dc.contributor.author | Hopper, JL | |
dc.contributor.author | Southey, MC | |
dc.contributor.author | Schmidt, MK | |
dc.contributor.author | Broeks, A | |
dc.contributor.author | Muir, K | |
dc.contributor.author | Lophatananon, A | |
dc.contributor.author | Fasching, PA | |
dc.contributor.author | Beckmann, MW | |
dc.contributor.author | Fletcher, O | |
dc.contributor.author | Johnson, N | |
dc.contributor.author | Sawyer, EJ | |
dc.contributor.author | Tomlinson, I | |
dc.contributor.author | Burwinkel, B | |
dc.contributor.author | Marme, F | |
dc.contributor.author | Guénel, P | |
dc.contributor.author | Truong, T | |
dc.contributor.author | Bojesen, SE | |
dc.contributor.author | Flyger, H | |
dc.contributor.author | Benitez, J | |
dc.contributor.author | González-Neira, A | |
dc.contributor.author | Anton-Culver, H | |
dc.contributor.author | Neuhausen, SL | |
dc.contributor.author | Brenner, H | |
dc.contributor.author | Arndt, V | |
dc.contributor.author | Meindl, A | |
dc.contributor.author | Schmutzler, RK | |
dc.contributor.author | Brauch, H | |
dc.contributor.author | Hamann, U | |
dc.contributor.author | Nevanlinna, H | |
dc.contributor.author | Khan, S | |
dc.contributor.author | Matsuo, K | |
dc.contributor.author | Iwata, H | |
dc.contributor.author | Dörk, T | |
dc.contributor.author | Bogdanova, NV | |
dc.contributor.author | Lindblom, A | |
dc.contributor.author | Margolin, S | |
dc.contributor.author | Mannermaa, A | |
dc.contributor.author | Kosma, V-M | |
dc.contributor.author | Chenevix-Trench, G | |
dc.contributor.author | kConFab/AOCS Investigators, | |
dc.contributor.author | Wu, AH | |
dc.contributor.author | Ven den Berg, D | |
dc.contributor.author | Smeets, A | |
dc.contributor.author | Zhao, H | |
dc.contributor.author | Chang-Claude, J | |
dc.contributor.author | Rudolph, A | |
dc.contributor.author | Radice, P | |
dc.contributor.author | Barile, M | |
dc.contributor.author | Couch, FJ | |
dc.contributor.author | Vachon, C | |
dc.contributor.author | Giles, GG | |
dc.contributor.author | Milne, RL | |
dc.contributor.author | Haiman, CA | |
dc.contributor.author | Marchand, LL | |
dc.contributor.author | Goldberg, MS | |
dc.contributor.author | Teo, SH | |
dc.contributor.author | Taib, NAM | |
dc.contributor.author | Kristensen, V | |
dc.contributor.author | Borresen-Dale, A-L | |
dc.contributor.author | Zheng, W | |
dc.contributor.author | Shrubsole, M | |
dc.contributor.author | Winqvist, R | |
dc.contributor.author | Jukkola-Vuorinen, A | |
dc.contributor.author | Andrulis, IL | |
dc.contributor.author | Knight, JA | |
dc.contributor.author | Devilee, P | |
dc.contributor.author | Seynaeve, C | |
dc.contributor.author | García-Closas, M | |
dc.contributor.author | Czene, K | |
dc.contributor.author | Darabi, H | |
dc.contributor.author | Hollestelle, A | |
dc.contributor.author | Martens, JWM | |
dc.contributor.author | Li, J | |
dc.contributor.author | Lu, W | |
dc.contributor.author | Shu, X-O | |
dc.contributor.author | Cox, A | |
dc.contributor.author | Cross, SS | |
dc.contributor.author | Blot, W | |
dc.contributor.author | Cai, Q | |
dc.contributor.author | Shah, M | |
dc.contributor.author | Luccarini, C | |
dc.contributor.author | Baynes, C | |
dc.contributor.author | Harrington, P | |
dc.contributor.author | Kang, D | |
dc.contributor.author | Choi, J-Y | |
dc.contributor.author | Hartman, M | |
dc.contributor.author | Chia, KS | |
dc.contributor.author | Kabisch, M | |
dc.contributor.author | Torres, D | |
dc.contributor.author | Jakubowska, A | |
dc.contributor.author | Lubinski, J | |
dc.contributor.author | Sangrajrang, S | |
dc.contributor.author | Brennan, P | |
dc.contributor.author | Slager, S | |
dc.contributor.author | Yannoukakos, D | |
dc.contributor.author | Shen, C-Y | |
dc.contributor.author | Hou, M-F | |
dc.contributor.author | Swerdlow, A | |
dc.contributor.author | Orr, N | |
dc.contributor.author | Simard, J | |
dc.contributor.author | Hall, P | |
dc.contributor.author | Pharoah, PDP | |
dc.contributor.author | Easton, DF | |
dc.contributor.author | Chanock, SJ | |
dc.contributor.author | Dunning, AM | |
dc.contributor.author | Figueroa, JD | |
dc.date.accessioned | 2016-11-23T13:25:09Z | |
dc.date.issued | 2016-08-24 | |
dc.identifier.citation | PloS one, 2016, 11 (8), pp. e0160316 - ? | |
dc.identifier.issn | 1932-6203 | |
dc.identifier.uri | https://repository.icr.ac.uk/handle/internal/249 | |
dc.identifier.eissn | 1932-6203 | |
dc.identifier.doi | 10.1371/journal.pone.0160316 | |
dc.description.abstract | The Cancer Genetic Markers of Susceptibility genome-wide association study (GWAS) originally identified a single nucleotide polymorphism (SNP) rs11249433 at 1p11.2 associated with breast cancer risk. To fine-map this locus, we genotyped 92 SNPs in a 900kb region (120,505,799-121,481,132) flanking rs11249433 in 45,276 breast cancer cases and 48,998 controls of European, Asian and African ancestry from 50 studies in the Breast Cancer Association Consortium. Genotyping was done using iCOGS, a custom-built array. Due to the complicated nature of the region on chr1p11.2: 120,300,000-120,505,798, that lies near the centromere and contains seven duplicated genomic segments, we restricted analyses to 429 SNPs excluding the duplicated regions (42 genotyped and 387 imputed). Per-allelic associations with breast cancer risk were estimated using logistic regression models adjusting for study and ancestry-specific principal components. The strongest association observed was with the original identified index SNP rs11249433 (minor allele frequency (MAF) 0.402; per-allele odds ratio (OR) = 1.10, 95% confidence interval (CI) 1.08-1.13, P = 1.49 x 10-21). The association for rs11249433 was limited to ER-positive breast cancers (test for heterogeneity P≤8.41 x 10-5). Additional analyses by other tumor characteristics showed stronger associations with moderately/well differentiated tumors and tumors of lobular histology. Although no significant eQTL associations were observed, in silico analyses showed that rs11249433 was located in a region that is likely a weak enhancer/promoter. Fine-mapping analysis of the 1p11.2 breast cancer susceptibility locus confirms this region to be limited to risk to cancers that are ER-positive. | |
dc.format | Electronic-eCollection | |
dc.format.extent | e0160316 - ? | |
dc.language | eng | |
dc.language.iso | eng | |
dc.publisher | PUBLIC LIBRARY SCIENCE | |
dc.subject | kConFab/AOCS Investigators | |
dc.subject | Chromosomes, Human, Pair 1 | |
dc.subject | Humans | |
dc.subject | Breast Neoplasms | |
dc.subject | Genetic Predisposition to Disease | |
dc.subject | Population Surveillance | |
dc.subject | Risk Assessment | |
dc.subject | Case-Control Studies | |
dc.subject | Chromosome Mapping | |
dc.subject | Computational Biology | |
dc.subject | Gene Frequency | |
dc.subject | Genotype | |
dc.subject | Linkage Disequilibrium | |
dc.subject | Polymorphism, Single Nucleotide | |
dc.subject | Alleles | |
dc.subject | Quantitative Trait Loci | |
dc.subject | Female | |
dc.subject | Genetic Association Studies | |
dc.subject | Neoplasm Grading | |
dc.title | Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus. | |
dc.type | Journal Article | |
dcterms.dateAccepted | 2016-07-18 | |
rioxxterms.versionofrecord | 10.1371/journal.pone.0160316 | |
rioxxterms.licenseref.startdate | 2016-01 | |
rioxxterms.type | Journal Article/Review | |
dc.relation.isPartOf | PloS one | |
pubs.issue | 8 | |
pubs.notes | Not known | |
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 | 11 | |
pubs.embargo.terms | Not known | |
icr.researchteam | Complex Trait Genetics | |
icr.researchteam | Functional Genetic Epidemiology | |
icr.researchteam | Aetiological Epidemiology | |
dc.contributor.icrauthor | Fletcher, Olivia | |
dc.contributor.icrauthor | Swerdlow, Anthony | |