Home > Publications database > Functional Analysis and Fine Mapping of the 9p22.2 Ovarian Cancer Susceptibility Locus. > print

001     142926
005     20240229112535.0
024 7 _ |a 10.1158/0008-5472.CAN-17-3864
|2 doi
024 7 _ |a pmid:30487138
|2 pmid
024 7 _ |a pmc:PMC6359979
|2 pmc
024 7 _ |a 0008-5472
|2 ISSN
024 7 _ |a 0099-7013
|2 ISSN
024 7 _ |a 0099-7374
|2 ISSN
024 7 _ |a 1538-7445
|2 ISSN
024 7 _ |a altmetric:52010131
|2 altmetric
037 _ _ |a DKFZ-2019-00554
041 _ _ |a eng
082 _ _ |a 610
100 1 _ |a Buckley, Melissa A
|b 0
245 _ _ |a Functional Analysis and Fine Mapping of the 9p22.2 Ovarian Cancer Susceptibility Locus.
260 _ _ |a Philadelphia, Pa.
|c 2019
|b AACR
336 7 _ |a article
|2 DRIVER
336 7 _ |a Output Types/Journal article
|2 DataCite
336 7 _ |a Journal Article
|b journal
|m journal
|0 PUB:(DE-HGF)16
|s 1634722043_16360
|2 PUB:(DE-HGF)
336 7 _ |a ARTICLE
|2 BibTeX
336 7 _ |a JOURNAL_ARTICLE
|2 ORCID
336 7 _ |a Journal Article
|0 0
|2 EndNote
520 _ _ |a : Genome-wide association studies have identified 40 ovarian cancer risk loci. However, the mechanisms underlying these associations remain elusive. In this study, we conducted a two-pronged approach to identify candidate causal SNPs and assess underlying biological mechanisms at chromosome 9p22.2, the first and most statistically significant associated locus for ovarian cancer susceptibility. Three transcriptional regulatory elements with allele-specific effects and a scaffold/matrix attachment region were characterized and, through physical DNA interactions, BNC2 was established as the most likely target gene. We determined the consensus binding sequence for BNC2 in vitro, verified its enrichment in BNC2 ChIP-seq regions, and validated a set of its downstream target genes. Fine-mapping by dense regional genotyping in over 15,000 ovarian cancer cases and 30,000 controls identified SNPs in the scaffold/matrix attachment region as among the most likely causal variants. This study reveals a comprehensive regulatory landscape at 9p22.2 and proposes a likely mechanism of susceptibility to ovarian cancer. SIGNIFICANCE: Mapping the 9p22.2 ovarian cancer risk locus identifies BNC2 as an ovarian cancer risk gene.See related commentary by Choi and Brown, p. 439.
536 _ _ |a 313 - Cancer risk factors and prevention (POF3-313)
|0 G:(DE-HGF)POF3-313
|c POF3-313
|f POF III
|x 0
588 _ _ |a Dataset connected to CrossRef, PubMed,
700 1 _ |a Woods, Nicholas T
|b 1
700 1 _ |a Tyrer, Jonathan P
|b 2
700 1 _ |a Mendoza-Fandiño, Gustavo
|b 3
700 1 _ |a Lawrenson, Kate
|0 0000-0002-6469-2515
|b 4
700 1 _ |a Hazelett, Dennis J
|0 0000-0003-0749-9935
|b 5
700 1 _ |a Najafabadi, Hamed S
|0 0000-0003-2735-4231
|b 6
700 1 _ |a Gjyshi, Anxhela
|b 7
700 1 _ |a Carvalho, Renato S
|b 8
700 1 _ |a Lyra, Paulo C
|b 9
700 1 _ |a Coetzee, Simon G
|0 0000-0003-4267-5930
|b 10
700 1 _ |a Shen, Howard C
|b 11
700 1 _ |a Yang, Ally W
|b 12
700 1 _ |a Earp, Madalene A
|b 13
700 1 _ |a Yoder, Sean J
|0 0000-0003-0005-7798
|b 14
700 1 _ |a Risch, Harvey
|b 15
700 1 _ |a Chenevix-Trench, Georgia
|b 16
700 1 _ |a Ramus, Susan J
|b 17
700 1 _ |a Phelan, Catherine M
|b 18
700 1 _ |a Coetzee, Gerhard A
|0 0000-0003-4267-5930
|b 19
700 1 _ |a Noushmehr, Houtan
|0 0000-0003-4051-8114
|b 20
700 1 _ |a Hughes, Timothy R
|b 21
700 1 _ |a Sellers, Thomas A
|b 22
700 1 _ |a Goode, Ellen L
|b 23
700 1 _ |a Pharoah, Paul D
|b 24
700 1 _ |a Gayther, Simon A
|b 25
700 1 _ |a Monteiro, Alvaro N A
|b 26
700 1 _ |a Consortium, Ovarian Cancer Association
|b 27
|e Collaboration Author
700 1 _ |a Rudolph, Anja
|0 P:(DE-He78)3c7f9136fb168ffb766316ea4ca1a58b
|b 28
700 1 _ |a Chang-Claude, Jenny
|0 P:(DE-He78)c259d6cc99edf5c7bc7ce22c7f87c253
|b 29
773 _ _ |a 10.1158/0008-5472.CAN-17-3864
|g Vol. 79, no. 3, p. 467 - 481
|0 PERI:(DE-600)2036785-5
|n 3
|p 467 - 481
|t Cancer research
|v 79
|y 2019
|x 1538-7445
909 C O |p VDB
|o oai:inrepo02.dkfz.de:142926
910 1 _ |a Deutsches Krebsforschungszentrum
|0 I:(DE-588b)2036810-0
|k DKFZ
|b 28
|6 P:(DE-He78)3c7f9136fb168ffb766316ea4ca1a58b
910 1 _ |a Deutsches Krebsforschungszentrum
|0 I:(DE-588b)2036810-0
|k DKFZ
|b 29
|6 P:(DE-He78)c259d6cc99edf5c7bc7ce22c7f87c253
913 1 _ |a DE-HGF
|b Gesundheit
|l Krebsforschung
|1 G:(DE-HGF)POF3-310
|0 G:(DE-HGF)POF3-313
|3 G:(DE-HGF)POF3
|2 G:(DE-HGF)POF3-300
|4 G:(DE-HGF)POF
|v Cancer risk factors and prevention
|x 0
914 1 _ |y 2019
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0300
|2 StatID
|b Medline
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0310
|2 StatID
|b NCBI Molecular Biology Database
915 _ _ |a JCR
|0 StatID:(DE-HGF)0100
|2 StatID
|b CANCER RES : 2017
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0200
|2 StatID
|b SCOPUS
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0600
|2 StatID
|b Ebsco Academic Search
915 _ _ |a Peer Review
|0 StatID:(DE-HGF)0030
|2 StatID
|b ASC
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0199
|2 StatID
|b Clarivate Analytics Master Journal List
915 _ _ |a WoS
|0 StatID:(DE-HGF)0110
|2 StatID
|b Science Citation Index
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0150
|2 StatID
|b Web of Science Core Collection
915 _ _ |a WoS
|0 StatID:(DE-HGF)0111
|2 StatID
|b Science Citation Index Expanded
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)1110
|2 StatID
|b Current Contents - Clinical Medicine
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)1030
|2 StatID
|b Current Contents - Life Sciences
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)1050
|2 StatID
|b BIOSIS Previews
915 _ _ |a IF >= 5
|0 StatID:(DE-HGF)9905
|2 StatID
|b CANCER RES : 2017
920 1 _ |0 I:(DE-He78)C020-20160331
|k C020
|l C020 Epidemiologie von Krebs
|x 0
980 _ _ |a journal
980 _ _ |a VDB
980 _ _ |a I:(DE-He78)C020-20160331
980 _ _ |a UNRESTRICTED

LibraryCollectionCLSMajorCLSMinorLanguageAuthor
Marc 21