A Common Variant at the 14q32 Endometrial Cancer Risk Locus Activates AKT1 through YY1 Binding

A recent meta-analysis of multiple genome-wide association and follow-up endometrial cancer case-control datasets identified a novel genetic risk locus for this disease at chromosome 14q32.33. To prioritize the functional SNP(s) and target gene(s) at this locus, we employed an in silico fine-mapping...

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Veröffentlicht in:	American journal of human genetics 2016-06, Vol.98 (6), p.1159-1169
Hauptverfasser:	Painter, Jodie N., Kaufmann, Susanne, O’Mara, Tracy A., Hillman, Kristine M., Sivakumaran, Haran, Darabi, Hatef, Cheng, Timothy H.T., Pearson, John, Kazakoff, Stephen, Waddell, Nicola, Hoivik, Erling A., Goode, Ellen L., Scott, Rodney J., Tomlinson, Ian, Dunning, Alison M., Easton, Douglas F., French, Juliet D., Salvesen, Helga B., Pollock, Pamela M., Thompson, Deborah J., Spurdle, Amanda B., Edwards, Stacey L.
Format:	Artikel
Sprache:	eng
Schlagworte:	Binding sites Chromosomes, Human, Pair 14 - genetics Endometrial cancer Endometrial Neoplasms - genetics Endometrial Neoplasms - metabolism Endometrial Neoplasms - pathology Female Genetic Loci Genetic Predisposition to Disease Genetics Genome-Wide Association Study Genomes Genotype Genotype & phenotype Humans Phosphatidylinositol 3-Kinases - genetics Polymorphism, Single Nucleotide - genetics Protein Binding Proto-Oncogene Proteins c-akt - genetics Proto-Oncogene Proteins c-akt - metabolism Risk Factors Signal Transduction Transcription factors Uterine Neoplasms - genetics Uterine Neoplasms - metabolism Uterine Neoplasms - pathology YY1 Transcription Factor - genetics YY1 Transcription Factor - metabolism
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