2018
Variants in genes encoding small GTPases and association with epithelial ovarian cancer susceptibility
Earp M, Tyrer JP, Winham SJ, Lin HY, Chornokur G, Dennis J, Aben KKH, Anton‐Culver H, Antonenkova N, Bandera EV, Bean YT, Beckmann MW, Bjorge L, Bogdanova N, Brinton LA, Brooks-Wilson A, Bruinsma F, Bunker CH, Butzow R, Campbell IG, Carty K, Chang-Claude J, Cook LS, Cramer DW, Cunningham JM, Cybulski C, Dansonka-Mieszkowska A, Despierre E, Doherty JA, Dörk T, du Bois A, Dürst M, Easton DF, Eccles DM, Edwards RP, Ekici AB, Fasching PA, Fridley BL, Gentry-Maharaj A, Giles GG, Glasspool R, Goodman MT, Gronwald J, Harter P, Hein A, Heitz F, Hildebrandt MAT, Hillemanns P, Hogdall CK, Høgdall E, Hosono S, Iversen ES, Jakubowska A, Jensen A, Ji BT, Jung AY, Karlan BY, Kellar M, Kiemeney LA, Lim B, Kjaer SK, Krakstad C, Kupryjanczyk J, Lambrechts D, Lambrechts S, Le ND, Lele S, Lester J, Levine DA, Li Z, Liang D, Lissowska J, Lu K, Lubinski J, Lundvall L, Massuger LFAG, Matsuo K, McGuire V, McLaughlin JR, McNeish I, Menon U, Milne RL, Modugno F, Moysich KB, Ness RB, Nevanlinna H, Odunsi K, Olson SH, Orlow I, Orsulic S, Paul J, Pejovic T, Pelttari LM, Permuth JB, Pike MC, Poole EM, Rosen B, Rossing MA, Rothstein JH, Runnebaum IB, Rzepecka IK, Schernhammer E, Schwaab I, Shu XO, Shvetsov YB, Siddiqui N, Sieh W, Song H, Southey MC, Spiewankiewicz B, Sucheston-Campbell L, Tangen IL, Teo SH, Terry KL, Thompson PJ, Thomsen L, Tworoger SS, van Altena AM, Vergote I, Thomsen L, Vierkant RA, Walsh CS, Wang-Gohrke S, Wentzensen N, Whittemore AS, Wicklund KG, Wilkens LR, Woo YL, Wu AH, Wu X, Xiang YB, Yang H, Zheng W, Ziogas A, Lee AW, Pearce CL, Berchuck A, Schildkraut JM, Ramus SJ, Monteiro ANA, Narod SA, Sellers TA, Gayther SA, Kelemen LE, Chenevix-Trench G, Risch HA, Pharoah PDP, Goode EL, Phelan CM. Variants in genes encoding small GTPases and association with epithelial ovarian cancer susceptibility. PLOS ONE 2018, 13: e0197561. PMID: 29979793, PMCID: PMC6034790, DOI: 10.1371/journal.pone.0197561.Peer-Reviewed Original ResearchConceptsFunctional annotationSmall GTPasesExpression quantitative trait lociPotential transcriptional regulatory functionTranscriptional regulatory functionQuantitative trait lociEpithelial ovarian cancer susceptibilitySmall GTPase genesSuper-enhancer regionsVesicle transportTrait lociGTPase genesSmall GTPSignal transductionCell motilityGenotype arraysRegulatory functionsNormal ovarian physiologyOvarian cancer susceptibilityVariants of interestRisk variantsEOC riskGermline variationGenesGTPases
2011
Inherited Variants in Mitochondrial Biogenesis Genes May Influence Epithelial Ovarian Cancer Risk
Permuth-Wey J, Chen YA, Tsai YY, Chen Z, Qu X, Lancaster JM, Stockwell H, Dagne G, Iversen E, Risch H, Barnholtz-Sloan J, Cunningham JM, Vierkant RA, Fridley BL, Sutphen R, McLaughlin J, Narod SA, Goode EL, Schildkraut JM, Fenstermacher D, Phelan CM, Sellers TA. Inherited Variants in Mitochondrial Biogenesis Genes May Influence Epithelial Ovarian Cancer Risk. Cancer Epidemiology Biomarkers & Prevention 2011, 20: 1131-1145. PMID: 21447778, PMCID: PMC3111851, DOI: 10.1158/1055-9965.epi-10-1224.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinoma, Clear CellAdenocarcinoma, MucinousBasic-Leucine Zipper Transcription FactorsCalcium-Calmodulin-Dependent Protein Kinase Type 2Case-Control StudiesCystadenocarcinoma, SerousDNA, MitochondrialEndometrial NeoplasmsFemaleGenes, MitochondrialGenotypeHeat-Shock ProteinsHumansMiddle AgedMitochondrial ProteinsNF-E2-Related Factor 2Nuclear Respiratory Factor 1Ovarian NeoplasmsOxidative StressPeroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alphaPolymorphism, Single NucleotideReceptors, EstrogenRisk FactorsTranscription FactorsConceptsMitochondrial biogenesis genesSingle nucleotide polymorphismsBiogenesis genesMitochondrial biogenesisSNP-level associationsOxidative phosphorylation pathwayEpithelial ovarian cancer susceptibilityMitochondrial-related genesGenes/regionsMitochondrial genomeOxidative stressPhosphorylation pathwayMTERFsSNP levelEOC susceptibilityGenesOvarian cancer susceptibilityNucleotide polymorphismsBiogenesisCancer susceptibilitySteroid hormone metabolismHormone metabolismEOC riskComplex mechanismsNongenetic factors