2020
Genome-wide association meta-analysis identifies GP2 gene risk variants for pancreatic cancer
Lin Y, Nakatochi M, Hosono Y, Ito H, Kamatani Y, Inoko A, Sakamoto H, Kinoshita F, Kobayashi Y, Ishii H, Ozaka M, Sasaki T, Matsuyama M, Sasahira N, Morimoto M, Kobayashi S, Fukushima T, Ueno M, Ohkawa S, Egawa N, Kuruma S, Mori M, Nakao H, Adachi Y, Okuda M, Osaki T, Kamiya S, Wang C, Hara K, Shimizu Y, Miyamoto T, Hayashi Y, Ebi H, Kohmoto T, Imoto I, Kasugai Y, Murakami Y, Akiyama M, Ishigaki K, Matsuda K, Hirata M, Shimada K, Okusaka T, Kawaguchi T, Takahashi M, Watanabe Y, Kuriki K, Kadota A, Okada R, Mikami H, Takezaki T, Suzuki S, Yamaji T, Iwasaki M, Sawada N, Goto A, Kinoshita K, Fuse N, Katsuoka F, Shimizu A, Nishizuka SS, Tanno K, Suzuki K, Okada Y, Horikoshi M, Yamauchi T, Kadowaki T, Yu H, Zhong J, Amundadottir LT, Doki Y, Ishii H, Eguchi H, Bogumil D, Haiman CA, Le Marchand L, Mori M, Risch H, Setiawan VW, Tsugane S, Wakai K, Yoshida T, Matsuda F, Kubo M, Kikuchi S, Matsuo K. Genome-wide association meta-analysis identifies GP2 gene risk variants for pancreatic cancer. Nature Communications 2020, 11: 3175. PMID: 32581250, PMCID: PMC7314803, DOI: 10.1038/s41467-020-16711-w.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsGenome-wide significant lociLead single nucleotide polymorphismsGenome-wide association studiesGene variantsMeta-analysis identifiesEast Asian ancestryEast Asian originSignificant lociRisk lociFunctional analysisAssociation studiesPancreatic cancer susceptibilityRisk variantsNucleotide polymorphismsCell linesGene risk variantsCancer susceptibilityLociAsian ancestryKRAS activityAsian originVariantsPancreatic cancerPopulation
2017
Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study
Haycock P, Burgess S, Nounu A, Zheng J, Okoli G, Bowden J, Wade K, Timpson N, Evans D, Willeit P, Aviv A, Gaunt T, Hemani G, Mangino M, Ellis H, Kurian K, Pooley K, Eeles R, Lee J, Fang S, Chen W, Law M, Bowdler L, Iles M, Yang Q, Worrall B, Markus H, Hung R, Amos C, Spurdle A, Thompson D, O’Mara T, Wolpin B, Amundadottir L, Stolzenberg-Solomon R, Trichopoulou A, Onland-Moret N, Lund E, Duell E, Canzian F, Severi G, Overvad K, Gunter M, Tumino R, Svenson U, van Rij A, Baas A, Bown M, Samani N, van t’Hof F, Tromp G, Jones G, Kuivaniemi H, Elmore J, Johansson M, Mckay J, Scelo G, Carreras-Torres R, Gaborieau V, Brennan P, Bracci P, Neale R, Olson S, Gallinger S, Li D, Petersen G, Risch H, Klein A, Han J, Abnet C, Freedman N, Taylor P, Maris J, Aben K, Kiemeney L, Vermeulen S, Wiencke J, Walsh K, Wrensch M, Rice T, Turnbull C, Litchfield K, Paternoster L, Standl M, Abecasis G, SanGiovanni J, Li Y, Mijatovic V, Sapkota Y, Low S, Zondervan K, Montgomery G, Nyholt D, van Heel D, Hunt K, Arking D, Ashar F, Sotoodehnia N, Woo D, Rosand J, Comeau M, Brown W, Silverman E, Hokanson J, Cho M, Hui J, Ferreira M, Thompson P, Morrison A, Felix J, Smith N, Christiano A, Petukhova L, Betz R, Fan X, Zhang X, Zhu C, Langefeld C, Thompson S, Wang F, Lin X, Schwartz D, Fingerlin T, Rotter J, Cotch M, Jensen R, Munz M, Dommisch H, Schaefer A, Han F, Ollila H, Hillary R, Albagha O, Ralston S, Zeng C, Zheng W, Shu X, Reis A, Uebe S, Hüffmeier U, Kawamura Y, Otowa T, Sasaki T, Hibberd M, Davila S, Xie G, Siminovitch K, Bei J, Zeng Y, Försti A, Chen B, Landi S, Franke A, Fischer A, Ellinghaus D, Flores C, Noth I, Ma S, Foo J, Liu J, Kim J, Cox D, Delattre O, Mirabeau O, Skibola C, Tang C, Garcia-Barcelo M, Chang K, Su W, Chang Y, Martin N, Gordon S, Wade T, Lee C, Kubo M, Cha P, Nakamura Y, Levy D, Kimura M, Hwang S, Hunt S, Spector T, Soranzo N, Manichaikul A, Barr R, Kahali B, Speliotes E, Yerges-Armstrong L, Cheng C, Jonas J, Wong T, Fogh I, Lin K, Powell J, Rice K, Relton C, Martin R, Smith G. Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study. JAMA Oncology 2017, 3: 636-651. PMID: 28241208, PMCID: PMC5638008, DOI: 10.1001/jamaoncol.2016.5945.Peer-Reviewed Original ResearchConceptsGermline genetic variationGenomewide association studiesGenetic variationSingle nucleotide polymorphismsTelomere lengthStem cell divisionSummary association statisticsGermline genetic variantsCell divisionAssociation studiesLonger telomeresGenetic variantsNucleotide polymorphismsAssociation statisticsTelomeresSummary dataLung adenocarcinomaKidney cancerNon-neoplastic diseasesPolymorphismVariationTissue sitesCancerOvarian cancerDivision
2016
Risk Prediction for Epithelial Ovarian Cancer in 11 United States–Based Case-Control Studies: Incorporation of Epidemiologic Risk Factors and 17 Confirmed Genetic Loci
Clyde MA, Weber R, Iversen ES, Poole EM, Doherty JA, Goodman MT, Ness RB, Risch HA, Rossing MA, Terry KL, Wentzensen N, Whittemore AS, Anton-Culver H, Bandera EV, Berchuck A, Carney ME, Cramer DW, Cunningham JM, Cushing-Haugen KL, Edwards RP, Fridley BL, Goode EL, Lurie G, McGuire V, Modugno F, Moysich KB, Olson SH, Pearce CL, Pike MC, Rothstein JH, Sellers TA, Sieh W, Stram D, Thompson PJ, Vierkant RA, Wicklund KG, Wu AH, Ziogas A, Tworoger SS, Schildkraut JM. Risk Prediction for Epithelial Ovarian Cancer in 11 United States–Based Case-Control Studies: Incorporation of Epidemiologic Risk Factors and 17 Confirmed Genetic Loci. American Journal Of Epidemiology 2016, 184: 579-589. PMID: 27698005, PMCID: PMC5065620, DOI: 10.1093/aje/kww091.Peer-Reviewed Original ResearchConceptsEpidemiologic risk factorsEpithelial ovarian cancerYears of ageRisk factorsAbsolute riskOvarian cancerInvasive epithelial ovarian cancerCase-control studyOvarian Cancer Association ConsortiumHierarchical logistic regression modelsRisk prediction modelLogistic regression modelsProspective data setSignificant single nucleotide polymorphismsCase-control statusControl studyRisk predictionSingle nucleotide polymorphismsAgeCancerLow discriminatory powerWomenAUCRegression modelsNucleotide polymorphismsThree new pancreatic cancer susceptibility signals identified on chromosomes 1q32.1, 5p15.33 and 8q24.21
Zhang M, Wang Z, Obazee O, Jia J, Childs EJ, Hoskins J, Figlioli G, Mocci E, Collins I, Chung CC, Hautman C, Arslan AA, Beane-Freeman L, Bracci PM, Buring J, Duell EJ, Gallinger S, Giles GG, Goodman GE, Goodman PJ, Kamineni A, Kolonel LN, Kulke MH, Malats N, Olson SH, Sesso HD, Visvanathan K, White E, Zheng W, Abnet CC, Albanes D, Andreotti G, Brais L, Bueno-de-Mesquita HB, Basso D, Berndt SI, Boutron-Ruault MC, Bijlsma MF, Brenner H, Burdette L, Campa D, Caporaso NE, Capurso G, Cavestro GM, Cotterchio M, Costello E, Elena J, Boggi U, Gaziano JM, Gazouli M, Giovannucci EL, Goggins M, Gross M, Haiman CA, Hassan M, Helzlsouer KJ, Hu N, Hunter DJ, Iskierka-Jazdzewska E, Jenab M, Kaaks R, Key TJ, Khaw KT, Klein EA, Kogevinas M, Krogh V, Kupcinskas J, Kurtz RC, Landi MT, Landi S, Marchand L, Mambrini A, Mannisto S, Milne RL, Neale RE, Oberg AL, Panico S, Patel AV, Peeters PH, Peters U, Pezzilli R, Porta M, Purdue M, Quiros JR, Riboli E, Rothman N, Scarpa A, Scelo G, Shu XO, Silverman DT, Soucek P, Strobel O, Sund M, Małecka-Panas E, Taylor PR, Tavano F, Travis RC, Thornquist M, Tjønneland A, Tobias GS, Trichopoulos D, Vashist Y, Vodicka P, Wactawski-Wende J, Wentzensen N, Yu H, Yu K, Zeleniuch-Jacquotte A, Kooperberg C, Risch HA, Jacobs EJ, Li D, Fuchs C, Hoover R, Hartge P, Chanock SJ, Petersen GM, Stolzenberg-Solomon RS, Wolpin BM, Kraft P, Klein AP, Canzian F, Amundadottir LT. Three new pancreatic cancer susceptibility signals identified on chromosomes 1q32.1, 5p15.33 and 8q24.21. Oncotarget 2016, 7: 66328-66343. PMID: 27579533, PMCID: PMC5340084, DOI: 10.18632/oncotarget.11041.Peer-Reviewed Original ResearchConceptsPancreatic tissue samplesControl subjectsSingle nucleotide polymorphismsTissue samplesPancreatic Cancer Case-Control ConsortiumCase-control studyPancreatic cancer riskSusceptibility variantsGenome-wide association studiesChromosome 1q32.1Risk lociCancer riskNew susceptibility variantsNR5A2 expressionCancer susceptibility variantsIndependent risk variantsMarked reductionTumorsEuropean descentRisk variantsDisease researchNucleotide polymorphismsCancer risk lociTarget genesSubjectsInherited variants affecting RNA editing may contribute to ovarian cancer susceptibility: results from a large-scale collaboration
Permuth JB, Reid B, Earp M, Chen YA, Monteiro AN, Chen Z, Group A, Chenevix-Trench G, Fasching PA, Beckmann MW, Lambrechts D, Vanderstichele A, Van Niewenhuyse E, Vergote I, Rossing MA, Doherty JA, Chang-Claude J, Moysich K, Odunsi K, Goodman MT, Shvetsov YB, Wilkens LR, Thompson PJ, Dörk T, Bogdanova N, Butzow R, Nevanlinna H, Pelttari L, Leminen A, Modugno F, Edwards RP, Ness RB, Kelley J, Heitz F, Karlan B, Lester J, Kjaer SK, Jensen A, Giles G, Hildebrandt M, Liang D, Lu KH, Wu X, Levine DA, Bisogna M, Berchuck A, Cramer DW, Terry KL, Tworoger SS, Poole EM, Bandera EV, Fridley B, Cunningham J, Winham SJ, Olson SH, Orlow I, Bjorge L, Kiemeney LA, Massuger L, Pejovic T, Moffitt M, Le N, Cook LS, Brooks-Wilson A, Kelemen LE, Gronwald J, Lubinski J, Wentzensen N, Brinton LA, Lissowska J, Yang H, Hogdall E, Hogdall C, Lundvall L, Pharoah PD, Song H, Campbell I, Eccles D, McNeish I, Whittemore A, McGuire V, Sieh W, Rothstein J, Phelan CM, Risch H, Narod S, McLaughlin J, Anton-Culver H, Ziogas A, Menon U, Gayther S, Ramus SJ, Gentry-Maharaj A, Pearce CL, Wu AH, Kupryjanczyk J, Dansonka-Mieszkowska A, Schildkraut JM, Cheng JQ, Goode EL, Sellers TA. Inherited variants affecting RNA editing may contribute to ovarian cancer susceptibility: results from a large-scale collaboration. Oncotarget 2016, 5: 72381-72394. PMID: 27911851, PMCID: PMC5340123, DOI: 10.18632/oncotarget.10546.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsGene-level analysisRNA editingEOC susceptibilityADAR expressionExpression quantitative trait loci (eQTL) analysisQuantitative trait locus (QTL) analysisPost-transcriptional modificationsSequence kernel association testAdmixture maximum likelihood testInvasive EOC casesADAR genesRNA familiesLocus analysisUntranslated regionGene expressionAssociation analysisOvarian cancer susceptibilityADARGermline variationNucleotide polymorphismsTissue gene expressionMaximum likelihood testADAR3European ancestry
2015
Common Genetic Variation in Circadian Rhythm Genes and Risk of Epithelial Ovarian Cancer (EOC)
Jim HS, Lin HY, Tyrer JP, Lawrenson K, Dennis J, Chornokur G, Chen Z, Chen AY, Permuth-Wey J, Aben KK, Anton-Culver H, Antonenkova N, Bruinsma F, Bandera EV, Bean YT, Beckmann MW, Bisogna M, Bjorge L, Bogdanova N, Brinton LA, Brooks-Wilson A, Bunker CH, Butzow R, Campbell IG, Carty K, Chang-Claude J, Cook LS, Cramer DW, Cunningham JM, Cybulski C, Dansonka-Mieszkowska A, du Bois A, Despierre E, Sieh W, Doherty JA, Dörk T, Dürst M, Easton DF, Eccles DM, Edwards RP, Ekici AB, Fasching PA, Fridley BL, Gao YT, Gentry-Maharaj A, Giles GG, Glasspool R, Goodman MT, Gronwald J, Harter P, Hasmad HN, Hein A, Heitz F, Hildebrandt MA, Hillemanns P, Hogdall CK, Hogdall E, Hosono S, Iversen ES, Jakubowska A, Jensen A, Ji BT, Karlan BY, Kellar M, Kiemeney LA, Krakstad C, Kjaer SK, Kupryjanczyk J, Vierkant RA, Lambrechts D, Lambrechts S, Le ND, Lee AW, Lele S, Leminen A, Lester J, Levine DA, Liang D, Lim BK, Lissowska J, Lu K, Lubinski J, Lundvall L, Massuger LF, Matsuo K, McGuire V, McLaughlin JR, McNeish I, Menon U, Milne RL, Modugno F, Thomsen L, Moysich KB, Ness RB, Nevanlinna H, Eilber U, Odunsi K, Olson SH, Orlow I, Orsulic S, Palmieri Weber R, Paul J, Pearce CL, Pejovic T, Pelttari LM, Pike MC, Poole EM, Schernhammer E, Risch HA, Rosen B, Rossing MA, Rothstein JH, Rudolph A, Runnebaum IB, Rzepecka IK, Salvesen HB, Schwaab I, Shu XO, Shvetsov YB, Siddiqui N, Song H, Southey MC, Spiewankiewicz B, Sucheston-Campbell L, Teo SH, Terry KL, Thompson PJ, Tangen IL, Tworoger SS, van Altena AM, Vergote I, Walsh CS, Wang-Gohrke S, Wentzensen N, Whittemore AS, Wicklund KG, Wilkens LR, Wu AH, Wu X, Woo YL, Yang H, Zheng W, Ziogas A, Amankwah E, Berchuck A, , Schildkraut JM, Kelemen LE, Ramus SJ, Monteiro AN, Goode EL, Narod SA, Gayther SA, Pharoah PD, Sellers TA, Phelan CM. Common Genetic Variation in Circadian Rhythm Genes and Risk of Epithelial Ovarian Cancer (EOC). Journal Of Genetics And Genome Research 2015, 2: 017. PMID: 26807442, PMCID: PMC4722961, DOI: 10.23937/2378-3648/1410017.Peer-Reviewed Original ResearchSingle nucleotide polymorphismsCircadian genesGenetic variationDownstream transcription factorsCircadian gene expressionCommon genetic variationGenotyped single nucleotide polymorphismsCircadian rhythm genesOvarian surface epithelial cellsAlternative splicingTranscription factorsGene expressionFunctional analysisHormonal pathwaysOvarian Cancer Association ConsortiumRhythm genesGenesGenotype dataNucleotide polymorphismsSurface epithelial cellsEpithelial cellsEnvironmental factorsGranulosa cellsOvarian cancerEpithelial ovarian cancerTERT gene harbors multiple variants associated with pancreatic cancer susceptibility
Campa D, Rizzato C, Stolzenberg-Solomon R, Pacetti P, Vodicka P, Cleary SP, Capurso G, Bueno-de-Mesquita HB, Werner J, Gazouli M, Butterbach K, Ivanauskas A, Giese N, Petersen GM, Fogar P, Wang Z, Bassi C, Ryska M, Theodoropoulos GE, Kooperberg C, Li D, Greenhalf W, Pasquali C, Hackert T, Fuchs CS, Mohelnikova-Duchonova B, Sperti C, Funel N, Dieffenbach AK, Wareham NJ, Buring J, Holcátová I, Costello E, Zambon CF, Kupcinskas J, Risch HA, Kraft P, Bracci PM, Pezzilli R, Olson SH, Sesso HD, Hartge P, Strobel O, Małecka-Panas E, Visvanathan K, Arslan AA, Pedrazzoli S, Souček P, Gioffreda D, Key TJ, Talar-Wojnarowska R, Scarpa A, Mambrini A, Jacobs EJ, Jamroziak K, Klein A, Tavano F, Bambi F, Landi S, Austin MA, Vodickova L, Brenner H, Chanock SJ, Delle Fave G, Piepoli A, Cantore M, Zheng W, Wolpin BM, Amundadottir LT, Canzian F. TERT gene harbors multiple variants associated with pancreatic cancer susceptibility. International Journal Of Cancer 2015, 137: 2175-2183. PMID: 25940397, PMCID: PMC4548797, DOI: 10.1002/ijc.29590.Peer-Reviewed Original ResearchConceptsPancreatic cancer riskCancer riskTelomerase reverse transcriptasePancreatic cancerSingle nucleotide polymorphismsAdditional single nucleotide polymorphismsTelomerase RNA component genePancreatic cancer susceptibilitySignificant associationCommon susceptibility lociCancer susceptibilityStatistical significanceRs401681RiskReverse transcriptaseTERT locusCancerDisease researchMultiple testingNucleotide polymorphismsLinkage disequilibriumIndependent variantsSusceptibility lociMiRNA-Related SNPs and Risk of Esophageal Adenocarcinoma and Barrett’s Esophagus: Post Genome-Wide Association Analysis in the BEACON Consortium
Buas MF, Onstad L, Levine DM, Risch HA, Chow WH, Liu G, Fitzgerald RC, Bernstein L, Ye W, Bird NC, Romero Y, Casson AG, Corley DA, Shaheen NJ, Wu AH, Gammon MD, Reid BJ, Hardie LJ, Peters U, Whiteman DC, Vaughan TL. MiRNA-Related SNPs and Risk of Esophageal Adenocarcinoma and Barrett’s Esophagus: Post Genome-Wide Association Analysis in the BEACON Consortium. PLOS ONE 2015, 10: e0128617. PMID: 26039359, PMCID: PMC4454432, DOI: 10.1371/journal.pone.0128617.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaAgedBarrett EsophagusCase-Control StudiesEsophageal NeoplasmsEsophagusFemaleGastroesophageal RefluxGene Expression RegulationGenetic LociGenome-Wide Association StudyHumansMaleMicroRNAsMiddle AgedObesityPolymorphism, Single NucleotideRisk FactorsSex FactorsSmokingWhite PeopleConceptsGenome-wide association studiesSingle nucleotide polymorphismsPost-transcriptional gene regulationGenome-wide association analysisMiRNA-related single nucleotide polymorphismsMiRNA gene lociSmall non-coding RNAsClasses of genesMiRNA-targeted mRNAsMiRNA biogenesis genesGenetic variantsNon-coding RNAsCommon genetic variantsGermline genetic variantsMiRNA genesBiogenesis genesGene regulationCore pathwaysGene locusAssociation studiesAssociation analysisGenesNucleotide polymorphismsNominal associationEuropean ancestry
2014
Polymorphisms Near TBX5 and GDF7 Are Associated With Increased Risk for Barrett’s Esophagus
Palles C, Chegwidden L, Li X, Findlay JM, Farnham G, Giner F, Peppelenbosch MP, Kovac M, Adams CL, Prenen H, Briggs S, Harrison R, Sanders S, MacDonald D, Haigh C, Tucker A, Love S, Nanji M, deCaestecker J, Ferry D, Rathbone B, Hapeshi J, Barr H, Moayyedi P, Watson P, Zietek B, Maroo N, Gay L, Underwood T, Boulter L, McMurtry H, Monk D, Patel P, Ragunath K, Al Dulaimi D, Murray I, Koss K, Veitch A, Trudgill N, Nwokolo C, Rembacken B, Atherfold P, Green E, Ang Y, Kuipers EJ, Chow W, Paterson S, Kadri S, Beales I, Grimley C, Mullins P, Beckett C, Farrant M, Dixon A, Kelly S, Johnson M, Wajed S, Dhar A, Sawyer E, Roylance R, Onstad L, Gammon MD, Corley DA, Shaheen NJ, Bird NC, Hardie LJ, Reid BJ, Ye W, Liu G, Romero Y, Bernstein L, Wu AH, Casson AG, Fitzgerald R, Whiteman DC, Risch HA, Levine DM, Vaughan TL, Verhaar AP, van den Brande J, Toxopeus EL, Spaander MC, Wijnhoven BP, van der Laan LJ, Krishnadath K, Wijmenga C, Trynka G, McManus R, Reynolds JV, O’Sullivan J, MacMathuna P, McGarrigle SA, Kelleher D, Vermeire S, Cleynen I, Bisschops R, Tomlinson I, Jankowski J. Polymorphisms Near TBX5 and GDF7 Are Associated With Increased Risk for Barrett’s Esophagus. Gastroenterology 2014, 148: 367-378. PMID: 25447851, PMCID: PMC4315134, DOI: 10.1053/j.gastro.2014.10.041.Peer-Reviewed Original ResearchConceptsProtein-coding genesSingle nucleotide polymorphismsTranscription factorsBone morphogenetic protein (BMP) pathwayWide association studyFurther single nucleotide polymorphismsRisk single nucleotide polymorphismsEsophageal developmentCardiac developmentRisk lociAssociation studiesFurther lociProtein pathwayChromosome 6p21GenesNucleotide polymorphismsLociTbx5GDF7Promising variantsPolymorphismBarx1FOXF1KbCRTC1Integrative post-genome-wide association analysis of CDKN2A and TP53 SNPs and risk of esophageal adenocarcinoma
Buas MF, Levine DM, Makar KW, Utsugi H, Onstad L, Li X, Galipeau PC, Shaheen NJ, Hardie LJ, Romero Y, Bernstein L, Gammon MD, Casson AG, Bird NC, Risch HA, Ye W, Liu G, Corley DA, Blount PL, Fitzgerald RC, Whiteman DC, Wu AH, Reid BJ, Vaughan TL. Integrative post-genome-wide association analysis of CDKN2A and TP53 SNPs and risk of esophageal adenocarcinoma. Carcinogenesis 2014, 35: 2740-2747. PMID: 25280564, PMCID: PMC4247522, DOI: 10.1093/carcin/bgu207.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaAgedBarrett EsophagusCase-Control StudiesCyclin-Dependent Kinase Inhibitor p16Disease ProgressionEsophageal NeoplasmsFemaleFollow-Up StudiesGenome-Wide Association StudyHumansMaleMiddle AgedNeoplasm StagingPolymorphism, Single NucleotidePrognosisRisk FactorsTumor Suppressor Protein p53ConceptsEsophageal adenocarcinomaBarrett's esophagusSingle nucleotide polymorphismsRisk of EACPredictors of progressionGermline single nucleotide polymorphismsTP53 single nucleotide polymorphismsNucleotide polymorphismsCDKN2A polymorphismsEA tumorsFrequent somatic mutationsProspective cohortCDKN2A variantsMale genderRisk factorsReduced riskTumor suppressor gene CDKN2ACaucasian raceMiR-663bEA casesSomatic alterationsGermline variationAdenocarcinomaGenes CDKN2AEsophagus
2012
Germline Copy Number Variation and Ovarian Cancer Survival
Fridley BL, Chalise P, Tsai YY, Sun Z, Vierkant RA, Larson MC, Cunningham JM, Iversen ES, Fenstermacher D, Barnholtz-Sloan J, Asmann Y, Risch HA, Schildkraut JM, Phelan CM, Sutphen R, Sellers TA, Goode EL. Germline Copy Number Variation and Ovarian Cancer Survival. Frontiers In Genetics 2012, 3: 142. PMID: 22891074, PMCID: PMC3413872, DOI: 10.3389/fgene.2012.00142.Peer-Reviewed Original ResearchSingle nucleotide polymorphismsGenome-wide arrayCopy number variationsCopy number changesSingle-marker approachGermline copy number variationsQuality control exclusionsChromosomal regionsNumber variationsNumber variantsNucleotide polymorphismsMultiple testing correctionCNV burdenConsecutive markersComplex diseasesLarge CNVsNumber changesChromosomal gainsSmall CNVsMarker approachCNVsGermline DNACNV probesCNV classificationComplementary approaches
2011
MicroRNA Processing and Binding Site Polymorphisms Are Not Replicated in the Ovarian Cancer Association Consortium
Permuth-Wey J, Chen Z, Tsai YY, Lin HY, Chen YA, Barnholtz-Sloan J, Birrer MJ, Chanock SJ, Cramer DW, Cunningham JM, Fenstermacher D, Fridley BL, Garcia-Closas M, Gayther SA, Gentry-Maharaj A, Gonzalez-Bosquet J, Iversen E, Jim H, McLaughlin J, Menon U, Narod SA, Phelan CM, Ramus SJ, Risch H, Song H, Sutphen R, Terry KL, Tyrer J, Vierkant RA, Wentzensen N, Lancaster JM, Cheng JQ, Berchuck A, Pharoah PD, Schildkraut JM, Goode EL, Sellers TA. MicroRNA Processing and Binding Site Polymorphisms Are Not Replicated in the Ovarian Cancer Association Consortium. Cancer Epidemiology Biomarkers & Prevention 2011, 20: 1793-1797. PMID: 21636674, PMCID: PMC3153581, DOI: 10.1158/1055-9965.epi-11-0397.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsGenotype dataMiRNA biogenesis genesBiogenesis genesInvasive EOC casesMicroRNA processingPutative miRNASNP dataPopulation admixtureSite polymorphismOvarian Cancer Association ConsortiumGenesGenetic variantsNucleotide polymorphismsEOC riskPopulation stratificationCommon variantsEuropean ancestryPolymorphismEarly associationEOC casesMicroRNAsKbMiRNAVariantsInherited 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 factorsLIN28B Polymorphisms Influence Susceptibility to Epithelial Ovarian Cancer
Permuth-Wey J, Kim D, Tsai YY, Lin HY, Chen YA, Barnholtz-Sloan J, Birrer MJ, Bloom G, Chanock SJ, Chen Z, Cramer DW, Cunningham JM, Dagne G, Ebbert-Syfrett J, Fenstermacher D, Fridley BL, Garcia-Closas M, Gayther SA, Ge W, Gentry-Maharaj A, Gonzalez-Bosquet J, Goode EL, Iversen E, Jim H, Kong W, McLaughlin J, Menon U, Monteiro AN, Narod SA, Pharoah PD, Phelan CM, Qu X, Ramus SJ, Risch H, Schildkraut JM, Song H, Stockwell H, Sutphen R, Terry KL, Tyrer J, Vierkant RA, Wentzensen N, Lancaster JM, Cheng JQ, Sellers TA, Consortium O. LIN28B Polymorphisms Influence Susceptibility to Epithelial Ovarian Cancer. Cancer Research 2011, 71: 3896-3903. PMID: 21482675, PMCID: PMC3107389, DOI: 10.1158/0008-5472.can-10-4167.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaAllelesCarcinoma, Ovarian EpithelialCase-Control StudiesCell Line, TumorDNA, NeoplasmDNA-Binding ProteinsFemaleGenetic Predisposition to DiseaseHumansMicroRNAsMiddle AgedNeoplasms, Glandular and EpithelialOvarian NeoplasmsPolymorphism, Single NucleotideRNA-Binding ProteinsTransfectionConceptsMiRNA biogenesis genesSingle nucleotide polymorphismsBiogenesis genesPutative transcription factorLuciferase reporter assaysMicroRNA biogenesisTranscription factorsPromoter regionTumor suppressorReporter assaysQuantitative RT-PCREOC susceptibilityGenesNucleotide polymorphismsLIN28B overexpressionLIN28B expressionLIN28B geneInfluence susceptibilityRT-PCRExpressionEpithelial ovarian cancerBiogenesisDroshaOvarian cancerFMR1
2009
Polymorphic Variation of Genes in the Fibrinolytic System and the Risk of Ovarian Cancer
Bentov Y, Brown TJ, Akbari MR, Royer R, Risch H, Rosen B, McLaughlin J, Sun P, Zhang S, Narod SA, Casper RF. Polymorphic Variation of Genes in the Fibrinolytic System and the Risk of Ovarian Cancer. PLOS ONE 2009, 4: e5918. PMID: 19526059, PMCID: PMC2691597, DOI: 10.1371/journal.pone.0005918.Peer-Reviewed Original ResearchConceptsOvarian cancerSingle nucleotide polymorphismsCandidate genesFibrinolytic systemGenesFunctional variantsFunctional SNPsNucleotide polymorphismsPolymorphic variationBlood clot degradationOvarian cancer casesFunctional effectsSNPsHistologic subgroupsRetrograde menstruationCancer casesClot degradationGenotype distributionBlood clotsSignificant associationCancerFibrin productsGermlineInefficient removalRisk