2026-05-20T22:56:58Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/73312024-11-29T16:45:04Zcom_20.500.12105_2173com_20.500.12105_2051col_20.500.12105_19597
Repisalud
author
Glubb, Dylan M
author
Johnatty, Sharon E
author
Quinn, Michael C J
author
O'Mara, Tracy A
author
Tyrer, Jonathan P
author
Gao, Bo
author
Fasching, Peter A
author
Beckmann, Matthias W
author
Lambrechts, Diether
author
Vergote, Ignace
author
Velez Edwards, Digna R
author
Beeghly-Fadiel, Alicia
author
Benitez, Javier
author
Garcia, Maria J
author
Goodman, Marc T
author
Thompson, Pamela J
author
Dörk, Thilo
author
Dürst, Matthias
author
Modungo, Francesmary
author
Moysich, Kirsten
author
Heitz, Florian
author
du Bois, Andreas
author
Pfisterer, Jacobus
author
Hillemanns, Peter
author
Karlan, Beth Y
author
Lester, Jenny
author
Goode, Ellen L
author
Cunningham, Julie M
author
Winham, Stacey J
author
Larson, Melissa C
author
McCauley, Bryan M
author
Kjær, Susanne Krüger
author
Jensen, Allan
author
Schildkraut, Joellen M
author
Berchuck, Andrew
author
Cramer, Daniel W
author
Terry, Kathryn L
author
Salvesen, Helga B
author
Bjorge, Line
author
Webb, Penny M
author
Grant, Peter
author
Pejovic, Tanja
author
Moffitt, Melissa
author
Hogdall, Claus K
author
Hogdall, Estrid
author
Paul, James
author
Glasspool, Rosalind
author
Bernardini, Marcus
author
Tone, Alicia
author
Huntsman, David
author
Woo, Michelle
author
Group, Aocs
author
deFazio, Anna
author
Kennedy, Catherine J
author
Pharoah, Paul D P
author
MacGregor, Stuart
author
Chenevix-Trench, Georgia
funder
National Science Foundation (Estados Unidos)
funder
Unión Europea. Comisión Europea
funder
Cancer Research UK (Reino Unido)
funder
Canadian Institutes of Health Research
funder
Cancer Council Western Australia (Australia)
funder
Instituto de Salud Carlos III
funder
Ministerio de Economía y Competitividad (España)
funder
North Carolina Ovarian Cancer Study
2019-03-14T11:38:35Z
2019-03-14T11:38:35Z
2017-09-12
Oncotarget. 2017;8(39):64670-64684
10.18632/oncotarget.18501
1949-2553
1949-2553
Oncotarget
29029385
http://hdl.handle.net/20.500.12105/7331
We previously identified associations with ovarian cancer outcome at five genetic loci. To identify putatively causal genetic variants and target genes, we prioritized two ovarian outcome loci (1q22 and 19p12) for further study. Bioinformatic and functional genetic analyses indicated that MEF2D and ZNF100 are targets of candidate outcome variants at 1q22 and 19p12, respectively. At 19p12, the chromatin interaction of a putative regulatory element with the ZNF100 promoter region correlated with candidate outcome variants. At 1q22, putative regulatory elements enhanced MEF2D promoter activity and haplotypes containing candidate outcome variants modulated these effects. In a public dataset, MEF2D and ZNF100 expression were both associated with ovarian cancer progression-free or overall survival time. In an extended set of 6,162 epithelial ovarian cancer patients, we found that functional candidates at the 1q22 and 19p12 loci, as well as other regional variants, were nominally associated with patient outcome; however, no associations reached our threshold for statistical significance (p<1×10-5). Larger patient numbers will be needed to convincingly identify any true associations at these loci.
eng
Gene regulation
Genetic association
Meta-analysis
Ovarian cancer outcome
Analyses of germline variants associated with ovarian cancer survival identify functional candidates at the 1q22 and 19p12 outcome loci
journal article
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