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@ARTICLE{Buckley:142926,
author = {M. A. Buckley and N. T. Woods and J. P. Tyrer and G.
Mendoza-Fandiño and K. Lawrenson and D. J. Hazelett and H.
S. Najafabadi and A. Gjyshi and R. S. Carvalho and P. C.
Lyra and S. G. Coetzee and H. C. Shen and A. W. Yang and M.
A. Earp and S. J. Yoder and H. Risch and G. Chenevix-Trench
and S. J. Ramus and C. M. Phelan and G. A. Coetzee and H.
Noushmehr and T. R. Hughes and T. A. Sellers and E. L. Goode
and P. D. Pharoah and S. A. Gayther and A. N. A. Monteiro
and A. Rudolph$^*$ and J. Chang-Claude$^*$},
collaboration = {O. C. A. Consortium},
title = {{F}unctional {A}nalysis and {F}ine {M}apping of the 9p22.2
{O}varian {C}ancer {S}usceptibility {L}ocus.},
journal = {Cancer research},
volume = {79},
number = {3},
issn = {1538-7445},
address = {Philadelphia, Pa.},
publisher = {AACR},
reportid = {DKFZ-2019-00554},
pages = {467 - 481},
year = {2019},
abstract = {: 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.},
cin = {C020},
ddc = {610},
cid = {I:(DE-He78)C020-20160331},
pnm = {313 - Cancer risk factors and prevention (POF3-313)},
pid = {G:(DE-HGF)POF3-313},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:30487138},
pmc = {pmc:PMC6359979},
doi = {10.1158/0008-5472.CAN-17-3864},
url = {https://inrepo02.dkfz.de/record/142926},
}