Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.
dc.contributor.author | Fachal, Laura | |
dc.contributor.author | Aschard, Hugues | |
dc.contributor.author | Beesley, Jonathan | |
dc.contributor.author | Barnes, Daniel R | |
dc.contributor.author | Allen, Jamie | |
dc.contributor.author | Kar, Siddhartha | |
dc.contributor.author | Pooley, Karen A | |
dc.contributor.author | Dennis, Joe | |
dc.contributor.author | Michailidou, Kyriaki | |
dc.contributor.author | Turman, Constance | |
dc.contributor.author | Soucy, Penny | |
dc.contributor.author | Lemaçon, Audrey | |
dc.contributor.author | Lush, Michael | |
dc.contributor.author | Tyrer, Jonathan P | |
dc.contributor.author | Ghoussaini, Maya | |
dc.contributor.author | Moradi Marjaneh, Mahdi | |
dc.contributor.author | Jiang, Xia | |
dc.contributor.author | Agata, Simona | |
dc.contributor.author | Aittomäki, Kristiina | |
dc.contributor.author | Alonso, M Rosario | |
dc.contributor.author | Andrulis, Irene L | |
dc.contributor.author | Anton-Culver, Hoda | |
dc.contributor.author | Antonenkova, Natalia N | |
dc.contributor.author | Arason, Adalgeir | |
dc.contributor.author | Arndt, Volker | |
dc.contributor.author | Aronson, Kristan J | |
dc.contributor.author | Arun, Banu K | |
dc.contributor.author | Auber, Bernd | |
dc.contributor.author | Auer, Paul L | |
dc.contributor.author | Azzollini, Jacopo | |
dc.contributor.author | Balmaña, Judith | |
dc.contributor.author | Barkardottir, Rosa B | |
dc.contributor.author | Barrowdale, Daniel | |
dc.contributor.author | Beeghly-Fadiel, Alicia | |
dc.contributor.author | Benitez, Javier | |
dc.contributor.author | Bermisheva, Marina | |
dc.contributor.author | Białkowska, Katarzyna | |
dc.contributor.author | Blanco, Amie M | |
dc.contributor.author | Blomqvist, Carl | |
dc.contributor.author | Blot, William | |
dc.contributor.author | Bogdanova, Natalia V | |
dc.contributor.author | Bojesen, Stig E | |
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dc.contributor.author | Brauch, Hiltrud | |
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dc.contributor.author | Briceno, Ignacio | |
dc.contributor.author | Brock, Ian W | |
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dc.contributor.author | Chung, Wendy K | |
dc.contributor.author | Claes, Kathleen BM | |
dc.contributor.author | Clarke, Christine L | |
dc.contributor.author | GEMO Study Collaborators | |
dc.contributor.author | EMBRACE Collaborators | |
dc.contributor.author | Collée, J Margriet | |
dc.contributor.author | Cornelissen, Sten | |
dc.contributor.author | Couch, Fergus J | |
dc.contributor.author | Cox, Angela | |
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dc.contributor.author | de la Hoya, Miguel | |
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dc.contributor.author | Dörk, Thilo | |
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dc.contributor.author | González-Neira, Anna | |
dc.contributor.author | Tibiletti, Maria Grazia | |
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dc.contributor.author | KConFab Investigators | |
dc.contributor.author | HEBON Investigators | |
dc.contributor.author | ABCTB Investigators | |
dc.contributor.author | Isaacs, Claudine | |
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dc.contributor.author | Tung, Nadine | |
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dc.contributor.author | Vachon, Celine M | |
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dc.contributor.author | van Rensburg, Elizabeth J | |
dc.contributor.author | Vega, Ana | |
dc.contributor.author | Viel, Alessandra | |
dc.contributor.author | Vijai, Joseph | |
dc.contributor.author | Vogel, Maartje J | |
dc.contributor.author | Wang, Qin | |
dc.contributor.author | Wappenschmidt, Barbara | |
dc.contributor.author | Weinberg, Clarice R | |
dc.contributor.author | Weitzel, Jeffrey N | |
dc.contributor.author | Wendt, Camilla | |
dc.contributor.author | Wildiers, Hans | |
dc.contributor.author | Winqvist, Robert | |
dc.contributor.author | Wolk, Alicja | |
dc.contributor.author | Wu, Anna H | |
dc.contributor.author | Yannoukakos, Drakoulis | |
dc.contributor.author | Zhang, Yan | |
dc.contributor.author | Zheng, Wei | |
dc.contributor.author | Hunter, David | |
dc.contributor.author | Pharoah, Paul DP | |
dc.contributor.author | Chang-Claude, Jenny | |
dc.contributor.author | García-Closas, Montserrat | |
dc.contributor.author | Schmidt, Marjanka K | |
dc.contributor.author | Milne, Roger L | |
dc.contributor.author | Kristensen, Vessela N | |
dc.contributor.author | French, Juliet D | |
dc.contributor.author | Edwards, Stacey L | |
dc.contributor.author | Antoniou, Antonis C | |
dc.contributor.author | Chenevix-Trench, Georgia | |
dc.contributor.author | Simard, Jacques | |
dc.contributor.author | Easton, Douglas F | |
dc.contributor.author | Kraft, Peter | |
dc.contributor.author | Dunning, Alison M | |
dc.date.accessioned | 2019-11-06T01:21:09Z | |
dc.date.available | 2019-11-06T01:21:09Z | |
dc.date.issued | 2020-01 | |
dc.identifier.issn | 1061-4036 | |
dc.identifier.uri | https://www.repository.cam.ac.uk/handle/1810/298712 | |
dc.description.abstract | Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underlying risk remain largely unknown. These regions were explored by combining association analysis with in silico genomic feature annotations. We defined 205 independent risk-associated signals with the set of credible causal variants in each one. In parallel, we used a Bayesian approach (PAINTOR) that combines genetic association, linkage disequilibrium and enriched genomic features to determine variants with high posterior probabilities of being causal. Potentially causal variants were significantly over-represented in active gene regulatory regions and transcription factor binding sites. We applied our INQUSIT pipeline for prioritizing genes as targets of those potentially causal variants, using gene expression (expression quantitative trait loci), chromatin interaction and functional annotations. Known cancer drivers, transcription factors and genes in the developmental, apoptosis, immune system and DNA integrity checkpoint gene ontology pathways were over-represented among the highest-confidence target genes. | |
dc.description.sponsorship | Includes CRUK, FP7 and H2020 | |
dc.format.medium | Print-Electronic | |
dc.language | eng | |
dc.publisher | Springer Science and Business Media LLC | |
dc.rights | All rights reserved | |
dc.subject | GEMO Study Collaborators | |
dc.subject | EMBRACE Collaborators | |
dc.subject | KConFab Investigators | |
dc.subject | HEBON Investigators | |
dc.subject | ABCTB Investigators | |
dc.subject | Humans | |
dc.subject | Breast Neoplasms | |
dc.subject | Genetic Predisposition to Disease | |
dc.subject | Bayes Theorem | |
dc.subject | Risk Factors | |
dc.subject | Chromosome Mapping | |
dc.subject | Regulatory Sequences, Nucleic Acid | |
dc.subject | Linkage Disequilibrium | |
dc.subject | Polymorphism, Single Nucleotide | |
dc.subject | Quantitative Trait Loci | |
dc.subject | Female | |
dc.subject | Genome-Wide Association Study | |
dc.subject | Biomarkers, Tumor | |
dc.title | Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes. | |
dc.type | Article | |
prism.endingPage | 73 | |
prism.issueIdentifier | 1 | |
prism.publicationDate | 2020 | |
prism.publicationName | Nat Genet | |
prism.startingPage | 56 | |
prism.volume | 52 | |
dc.identifier.doi | 10.17863/CAM.45768 | |
dcterms.dateAccepted | 2019-10-24 | |
rioxxterms.versionofrecord | 10.1038/s41588-019-0537-1 | |
rioxxterms.version | AM | |
rioxxterms.licenseref.uri | http://www.rioxx.net/licenses/all-rights-reserved | |
rioxxterms.licenseref.startdate | 2020-01-07 | |
dc.contributor.orcid | Aschard, Hugues [0000-0002-7554-6783] | |
dc.contributor.orcid | Barnes, Daniel R [0000-0002-3781-7570] | |
dc.contributor.orcid | Dennis, Joe [0000-0003-4591-1214] | |
dc.contributor.orcid | Michailidou, Kyriaki [0000-0001-7065-1237] | |
dc.contributor.orcid | Lemaçon, Audrey [0000-0002-1817-7029] | |
dc.contributor.orcid | Andrulis, Irene L [0000-0002-4226-6435] | |
dc.contributor.orcid | Arason, Adalgeir [0000-0003-0480-886X] | |
dc.contributor.orcid | Arndt, Volker [0000-0001-9320-8684] | |
dc.contributor.orcid | Auber, Bernd [0000-0003-1880-291X] | |
dc.contributor.orcid | Azzollini, Jacopo [0000-0002-9364-9778] | |
dc.contributor.orcid | Bojesen, Stig E [0000-0002-4061-4133] | |
dc.contributor.orcid | Bonanni, Bernardo [0000-0003-3589-2128] | |
dc.contributor.orcid | Brauch, Hiltrud [0000-0001-7531-2736] | |
dc.contributor.orcid | Campbell, Ian [0000-0002-7773-4155] | |
dc.contributor.orcid | Carroll, Jason S [0000-0003-3643-0080] | |
dc.contributor.orcid | Claes, Kathleen BM [0000-0003-0841-7372] | |
dc.contributor.orcid | Collée, J Margriet [0000-0002-9272-9346] | |
dc.contributor.orcid | Devilee, Peter [0000-0002-8023-2009] | |
dc.contributor.orcid | Dörk, Thilo [0000-0002-9458-0282] | |
dc.contributor.orcid | Dwek, Miriam [0000-0001-7184-2932] | |
dc.contributor.orcid | Fletcher, Olivia [0000-0001-9387-7116] | |
dc.contributor.orcid | Floris, Giuseppe [0000-0003-2391-5425] | |
dc.contributor.orcid | Foulkes, William D [0000-0001-7427-4651] | |
dc.contributor.orcid | García-Sáenz, José A [0000-0001-6880-0301] | |
dc.contributor.orcid | Greene, Mark H [0000-0003-1852-9239] | |
dc.contributor.orcid | Guénel, Pascal [0000-0002-8359-518X] | |
dc.contributor.orcid | Heemskerk-Gerritsen, Bernadette AM [0000-0002-9724-6693] | |
dc.contributor.orcid | Hollestelle, Antoinette [0000-0003-1166-1966] | |
dc.contributor.orcid | Hulick, Peter J [0000-0001-8397-4078] | |
dc.contributor.orcid | Jakimovska, Milena [0000-0002-1506-0669] | |
dc.contributor.orcid | Jakubowska, Anna [0000-0002-5650-0501] | |
dc.contributor.orcid | James, Paul A [0000-0002-4361-4657] | |
dc.contributor.orcid | Jones, Michael E [0000-0001-7479-3451] | |
dc.contributor.orcid | Kapoor, Pooja Middha [0000-0001-5503-8215] | |
dc.contributor.orcid | Keeman, Renske [0000-0002-5452-9933] | |
dc.contributor.orcid | Konstantopoulou, Irene [0000-0002-0470-0309] | |
dc.contributor.orcid | Leslie, Goska [0000-0001-5756-6222] | |
dc.contributor.orcid | Lesueur, Fabienne [0000-0001-7404-4549] | |
dc.contributor.orcid | Matsuo, Keitaro [0000-0003-1761-6314] | |
dc.contributor.orcid | McLean, Catriona [0000-0002-0302-5727] | |
dc.contributor.orcid | Miller, Austin [0000-0001-9739-8462] | |
dc.contributor.orcid | Muir, Kenneth [0000-0001-6429-988X] | |
dc.contributor.orcid | Muranen, Taru A [0000-0002-5895-1808] | |
dc.contributor.orcid | Nathanson, Katherine L [0000-0002-6740-0901] | |
dc.contributor.orcid | Nevanlinna, Heli [0000-0002-0916-2976] | |
dc.contributor.orcid | Olopade, Olufunmilayo I [0000-0002-9936-1599] | |
dc.contributor.orcid | Orr, Nick [0000-0003-2866-942X] | |
dc.contributor.orcid | Pankratz, V Shane [0000-0002-3742-040X] | |
dc.contributor.orcid | Parsons, Michael T [0000-0003-3242-8477] | |
dc.contributor.orcid | Paul, James [0000-0001-7367-5816] | |
dc.contributor.orcid | Peshkin, Beth [0000-0002-2997-4701] | |
dc.contributor.orcid | Peterlongo, Paolo [0000-0001-6951-6855] | |
dc.contributor.orcid | Peto, Julian [0000-0002-1685-8912] | |
dc.contributor.orcid | Plaseska-Karanfilska, Dijana [0000-0001-8877-2416] | |
dc.contributor.orcid | Pylkäs, Katri [0000-0002-2449-0521] | |
dc.contributor.orcid | Radice, Paolo [0000-0001-6298-4111] | |
dc.contributor.orcid | Rennert, Gad [0000-0002-8512-068X] | |
dc.contributor.orcid | Robson, Mark [0000-0002-3109-1692] | |
dc.contributor.orcid | Romero, Atocha [0000-0002-1634-7397] | |
dc.contributor.orcid | Saloustros, Emmanouil [0000-0002-0485-0120] | |
dc.contributor.orcid | Scott, Christopher [0000-0003-1340-0647] | |
dc.contributor.orcid | Scott, Rodney J [0000-0001-7724-3404] | |
dc.contributor.orcid | Spurdle, Amanda B [0000-0003-1337-7897] | |
dc.contributor.orcid | Stone, Jennifer [0000-0001-5077-0124] | |
dc.contributor.orcid | Sutter, Christian [0000-0003-4051-5888] | |
dc.contributor.orcid | Tan, Yen Yen [0000-0003-1063-5352] | |
dc.contributor.orcid | Teixeira, Manuel R [0000-0002-4896-5982] | |
dc.contributor.orcid | Toland, Amanda E [0000-0002-0271-1792] | |
dc.contributor.orcid | Tomlinson, Ian [0000-0003-3037-1470] | |
dc.contributor.orcid | Viel, Alessandra [0000-0003-2804-0840] | |
dc.contributor.orcid | Vijai, Joseph [0000-0002-7933-151X] | |
dc.contributor.orcid | Wolk, Alicja [0000-0001-7387-6845] | |
dc.contributor.orcid | Yannoukakos, Drakoulis [0000-0001-7509-3510] | |
dc.contributor.orcid | Pharoah, Paul DP [0000-0001-8494-732X] | |
dc.contributor.orcid | Schmidt, Marjanka K [0000-0002-2228-429X] | |
dc.contributor.orcid | Milne, Roger L [0000-0001-5764-7268] | |
dc.contributor.orcid | Edwards, Stacey L [0000-0001-7428-4139] | |
dc.contributor.orcid | Simard, Jacques [0000-0001-6906-3390] | |
dc.contributor.orcid | Easton, Douglas F [0000-0003-2444-3247] | |
dc.contributor.orcid | Kraft, Peter [0000-0002-4472-8103] | |
dc.contributor.orcid | Dunning, Alison M [0000-0001-6651-7166] | |
dc.identifier.eissn | 1546-1718 | |
rioxxterms.type | Journal Article/Review | |
pubs.funder-project-id | Cancer Research Uk (None) | |
pubs.funder-project-id | European Commission Horizon 2020 (H2020) Societal Challenges (634935) | |
pubs.funder-project-id | European Commission Horizon 2020 (H2020) Societal Challenges (633784) | |
pubs.funder-project-id | European Commission (223175) | |
pubs.funder-project-id | National Cancer Institute (U19CA148065) | |
pubs.funder-project-id | European Commission Horizon 2020 (H2020) Marie Sk?odowska-Curie actions (656144) | |
pubs.funder-project-id | Cancer Research UK (A10710) | |
pubs.funder-project-id | Cancer Research UK (A16563) | |
pubs.funder-project-id | Cancer Research UK (A10118) | |
pubs.funder-project-id | Wellcome Trust (203477/Z/16/Z) | |
cam.issuedOnline | 2020-01-07 | |
cam.orpheus.success | Thu Jan 30 10:36:05 GMT 2020 - Embargo updated | |
rioxxterms.freetoread.startdate | 2020-07-07 |
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