2020
Hepcidin-regulating Iron-metabolism Genes and Pancreatic Ductal Adenocarcinoma: A Pathway Analysis of Genome-wide Association Studies
Julián-Serrano S, Yuan F, Benyamin B, Wheeler W, Amundadottir L, Jacobs E, Kraft P, Li D, Petersen G, Risch H, Wolpin B, Yu K, Klein A, Stolzenberg-Solomon R. Hepcidin-regulating Iron-metabolism Genes and Pancreatic Ductal Adenocarcinoma: A Pathway Analysis of Genome-wide Association Studies. Cancer Epidemiology Biomarkers & Prevention 2020, 29: 692-692. DOI: 10.1158/1055-9965.epi-20-0056.Peer-Reviewed Original ResearchSingle nucleotide polymorphismsAssociation studiesSNP-level associationsGenome-wide association studiesAssociated single-nucleotide polymorphismsAdjacent genomic regionsWide association studyPrevious GWAS studiesIron metabolism genesIron metabolismGenomic regionsTfR1 genePancreatic ductal adenocarcinomaGWAS studiesPancreatic Cancer Case-Control ConsortiumPathway associationsPathway analysisGenesGenetic susceptibilityAdaptive rankRare mutationsAbstract Pancreatic ductal adenocarcinomaCommon variantsPathwayPotential role
2019
Analysis of Heritability and Genetic Architecture of Pancreatic Cancer: A PanC4 Study
Chen F, Childs EJ, Mocci E, Bracci P, Gallinger S, Li D, Neale RE, Olson SH, Scelo G, Bamlet WR, Blackford AL, Borges M, Brennan P, Chaffee KG, Duggal P, Hassan MJ, Holly EA, Hung RJ, Goggins MG, Kurtz RC, Oberg AL, Orlow I, Yu H, Petersen GM, Risch H, Klein AP. Analysis of Heritability and Genetic Architecture of Pancreatic Cancer: A PanC4 Study. Cancer Epidemiology Biomarkers & Prevention 2019, 28: 1238-1245. PMID: 31015203, PMCID: PMC6606380, DOI: 10.1158/1055-9965.epi-18-1235.Peer-Reviewed Original ResearchConceptsGWAS dataOverall heritabilityGenome-wide association study dataTotal phenotypic variationAssociation study dataPancreatic cancer susceptibility genesTotal phenotypic varianceAnalysis of heritabilityGWAS lociGenetic architectureFunctional annotationCancer susceptibility genesPhenotypic variationLoci accountPhenotypic varianceLinkage disequilibriumSusceptibility genesHeritabilityCommon variantsIntronic variantsEuropean ancestryGenesRare variants
2016
Association of Common Susceptibility Variants of Pancreatic Cancer in Higher-Risk Patients: A PACGENE Study
Childs EJ, Chaffee KG, Gallinger S, Syngal S, Schwartz AG, Cote ML, Bondy ML, Hruban RH, Chanock SJ, Hoover RN, Fuchs CS, Rider DN, Amundadottir LT, Stolzenberg-Solomon R, Wolpin BM, Risch HA, Goggins MG, Petersen GM, Klein AP. Association of Common Susceptibility Variants of Pancreatic Cancer in Higher-Risk Patients: A PACGENE Study. Cancer Epidemiology Biomarkers & Prevention 2016, 25: 1185-1191. PMID: 27197284, PMCID: PMC5321211, DOI: 10.1158/1055-9965.epi-15-1217.Peer-Reviewed Original ResearchConceptsHigh-risk populationPancreatic cancerEarly onset pancreatic cancerPancreatic cancer familiesHigh-risk patientsMagnitude of associationHigh-penetrance genesGenetic variantsPancreatic cancer susceptibilityUnselected patientsFamily historyProstate cancerColon cancerCommon genetic variantsCancerCancer familiesLogistic regressionCancer susceptibilityCancer susceptibility lociPatientsCancer lociOvarianCommon variantsBreastRisk
2015
Common variants at the CHEK2 gene locus and risk of epithelial ovarian cancer
Lawrenson K, Iversen ES, Tyrer J, Weber RP, Concannon P, Hazelett DJ, Li Q, Marks JR, Berchuck A, Lee JM, Aben KK, Anton-Culver H, Antonenkova N, Bandera E, Bean Y, Beckmann M, Bisogna M, Bjorge L, Bogdanova N, Brinton L, Brooks-Wilson A, Bruinsma F, Butzow R, Campbell I, Carty K, Chang-Claude J, Chenevix-Trench G, Chen A, Chen Z, Cook L, Cramer D, Cunningham J, Cybulski C, Plisiecka-Halasa J, Dennis J, Dicks E, Doherty J, Dörk T, du Bois A, Eccles D, Easton D, Edwards R, Eilber U, Ekici A, Fasching P, Fridley B, Gao Y, Gentry-Maharaj A, Giles G, Glasspool R, Goode E, Goodman M, Gronwald J, Harter P, Hasmad H, Hein A, Heitz F, Hildebrandt M, Hillemanns P, Hogdall E, Hogdall C, Hosono S, Jakubowska A, Paul J, Jensen A, Karlan B, Kjaer S, Kelemen L, Kellar M, Kelley J, Kiemeney L, Krakstad C, Lambrechts D, Lambrechts S, Le N, Lee A, Cannioto R, Leminen A, Lester J, Levine D, Liang D, Lissowska J, Lu K, Lubinski J, Lundvall L, Massuger L, Matsuo K, McGuire V, McLaughlin J, Nevanlinna H, McNeish I, Menon U, Modugno F, Moysich K, Narod S, Nedergaard L, Ness R, Azmi M, Odunsi K, Olson S, Orlow I, Orsulic S, Pearce C, Pejovic T, Pelttari L, Permuth-Wey J, Phelan C, Pike M, Poole E, Ramus S, Risch H, Rosen B, Rossing M, Rothstein J, Rudolph A, Runnebaum I, Rzepecka I, Salvesen H, Budzilowska A, Sellers T, Shu X, Shvetsov Y, Siddiqui N, Sieh W, Song H, Southey M, Sucheston L, Tangen I, Teo S, Terry K, Thompson P, Timorek A, Tworoger S, Van Nieuwenhuysen E, Vergote I, Vierkant R, Wang-Gohrke S, Walsh C, Wentzensen N, Whittemore A, Wicklund K, Wilkens L, Woo Y, Wu X, Wu A, Yang H, Zheng W, Ziogas A, Coetzee G, Freedman M, Monteiro A, Moes-Sosnowska J, Kupryjanczyk J, Pharoah P, Gayther S, Schildkraut J. Common variants at the CHEK2 gene locus and risk of epithelial ovarian cancer. Carcinogenesis 2015, 36: 1341-1353. PMID: 26424751, PMCID: PMC4635670, DOI: 10.1093/carcin/bgv138.Peer-Reviewed Original ResearchConceptsGene locusCommon variantsGenome-wide association studiesAdditional risk variantsDNA repair genesCommon genetic variantsImputation of genotypesCancer Genome Atlas (TCGA) datasetFunctional annotationGenomic regionsTranscription factorsRegulatory elementsNormal fallopian tube tissuesGenome ProjectCausal variantsPrecursor tissueGene expressionSerous epithelial ovarian cancerCandidate SNPsAssociation studiesAdditional genotypingRepair genesSusceptibility genesRisk variantsGenetic variants
2014
Exome-Wide Association Study of Endometrial Cancer in a Multiethnic Population
Chen MM, Crous-Bou M, Setiawan VW, Prescott J, Olson SH, Wentzensen N, Black A, Brinton L, Chen C, Chen C, Cook LS, Doherty J, Friedenreich CM, Hankinson SE, Hartge P, Henderson BE, Hunter DJ, Le Marchand L, Liang X, Lissowska J, Lu L, Orlow I, Petruzella S, Polidoro S, Pooler L, Rebbeck TR, Risch H, Sacerdote C, Schumacher F, Sheng X, Shu XO, Weiss NS, Xia L, Van Den Berg D, Yang HP, Yu H, Chanock S, Haiman C, Kraft P, De Vivo I. Exome-Wide Association Study of Endometrial Cancer in a Multiethnic Population. PLOS ONE 2014, 9: e97045. PMID: 24810602, PMCID: PMC4014590, DOI: 10.1371/journal.pone.0097045.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesExome-wide association studyAssociation studiesPrevious genome-wide association studyRare genetic variantsRare variantsHumanExome BeadChipGenetic variantsCommon variantsEndometrial cancerEC riskGenetic factorsEC pathogenesisGlobal significanceVariantsMultiethnic populationRisk of ECBeadChipEndometrial Cancer ConsortiumLociLarge effectCancer morbidityRisk factors
2013
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer
Bojesen SE, Pooley KA, Johnatty SE, Beesley J, Michailidou K, Tyrer JP, Edwards SL, Pickett HA, Shen HC, Smart CE, Hillman KM, Mai PL, Lawrenson K, Stutz MD, Lu Y, Karevan R, Woods N, Johnston RL, French JD, Chen X, Weischer M, Nielsen SF, Maranian MJ, Ghoussaini M, Ahmed S, Baynes C, Bolla MK, Wang Q, Dennis J, McGuffog L, Barrowdale D, Lee A, Healey S, Lush M, Tessier DC, Vincent D, Bacot F, Vergote I, Lambrechts S, Despierre E, Risch H, González-Neira A, Rossing M, Pita G, Doherty J, Álvarez N, Larson M, Fridley B, Schoof N, Chang-Claude J, Cicek M, Peto J, Kalli K, Broeks A, Armasu S, Schmidt M, Braaf L, Winterhoff B, Nevanlinna H, Konecny G, Lambrechts D, Rogmann L, Guénel P, Teoman A, Milne R, Garcia J, Cox A, Shridhar V, Burwinkel B, Marme F, Hein R, Sawyer E, Haiman C, Wang-Gohrke S, Andrulis I, Moysich K, Hopper J, Odunsi K, Lindblom A, Giles G, Brenner H, Simard J, Lurie G, Fasching P, Carney M, Radice P, Wilkens L, Swerdlow A, Goodman M, Brauch H, Garcia-Closas M, Hillemanns P, Winqvist R, Dürst M, Devilee P, Runnebaum I, Jakubowska A, Lubinski J, Mannermaa A, Butzow R, Bogdanova N, Dörk T, Pelttari L, Zheng W, Leminen A, Anton-Culver H, Bunker C, Kristensen V, Ness R, Muir K, Edwards R, Meindl A, Heitz F, Matsuo K, du Bois A, Wu A, Harter P, Teo S, Schwaab I, Shu X, Blot W, Hosono S, Kang D, Nakanishi T, Hartman M, Yatabe Y, Hamann U, Karlan B, Sangrajrang S, Kjaer S, Gaborieau V, Jensen A, Eccles D, Høgdall E, Shen C, Brown J, Woo Y, Shah M, Azmi M, Luben R, Omar S, Czene K, Vierkant R, Nordestgaard B, Flyger H, Vachon C, Olson J, Wang X, Levine D, Rudolph A, Weber R, Flesch-Janys D, Iversen E, Nickels S, Schildkraut J, Silva I, Cramer D, Gibson L, Terry K, Fletcher O, Vitonis A, van der Schoot C, Poole E, Hogervorst F, Tworoger S, Liu J, Bandera E, Li J, Olson S, Humphreys K, Orlow I, Blomqvist C, Rodriguez-Rodriguez L, Aittomäki K, Salvesen H, Muranen T, Wik E, Brouwers B, Krakstad C, Wauters E, Halle M, Wildiers H, Kiemeney L, Mulot C, Aben K, Laurent-Puig P, Altena A, Truong T, Massuger L, Benitez J, Pejovic T, Perez J, Hoatlin M, Zamora M, Cook L, Balasubramanian S, Kelemen L, Schneeweiss A, Le N, Sohn C, Brooks-Wilson A, Tomlinson I, Kerin M, Miller N, Cybulski C, Henderson B, Menkiszak J, Schumacher F, Wentzensen N, Le Marchand L, Yang H, Mulligan A, Glendon G, Engelholm S, Knight J, Høgdall C, Apicella C, Gore M, Tsimiklis H, Song H, Southey M, Jager A, den Ouweland A, Brown R, Martens J, Flanagan J, Kriege M, Paul J, Margolin S, Siddiqui N, Severi G, Whittemore A, Baglietto L, McGuire V, Stegmaier C, Sieh W, Müller H, Arndt V, Labrèche F, Gao Y, Goldberg M, Yang G, Dumont M, McLaughlin J, Hartmann A, Ekici A, Beckmann M, Phelan C, Lux M, Permuth-Wey J, Peissel B, Sellers T, Ficarazzi F, Barile M, Ziogas A, Ashworth A, Gentry-Maharaj A, Jones M, Ramus S, Orr N, Menon U, Pearce C, Brüning T, Pike M, Ko Y, Lissowska J, Figueroa J, Kupryjanczyk J, Chanock S, Dansonka-Mieszkowska A, Jukkola-Vuorinen A, Rzepecka I, Pylkäs K, Bidzinski M, Kauppila S, Hollestelle A, Seynaeve C, Tollenaar R, Durda K, Jaworska K, Hartikainen J, Kosma V, Kataja V, Antonenkova N, Long J, Shrubsole M, Deming-Halverson S, Lophatananon A, Siriwanarangsan P, Stewart-Brown S, Ditsch N, Lichtner P, Schmutzler R, Ito H, Iwata H, Tajima K, Tseng C, Stram D, van den Berg D, Yip C, Ikram M, Teh Y, Cai H, Lu W, Signorello L, Cai Q, Noh D, Yoo K, Miao H, Iau P, Teo Y, McKay J, Shapiro C, Ademuyiwa F, Fountzilas G, Hsiung C, Yu J, Hou M, Healey C, Luccarini C, Peock S, Stoppa-Lyonnet D, Peterlongo P, Rebbeck T, Piedmonte M, Singer C, Friedman E, Thomassen M, Offit K, Hansen T, Neuhausen S, Szabo C, Blanco I, Garber J, Narod S, Weitzel J, Montagna M, Olah E, Godwin A, Yannoukakos D, Goldgar D, Caldes T, Imyanitov E, Tihomirova L, Arun B, Campbell I, Mensenkamp A, van Asperen C, van Roozendaal K, Meijers-Heijboer H, Collée J, Oosterwijk J, Hooning M, Rookus M, van der Luijt R, Os T, Evans D, Frost D, Fineberg E, Barwell J, Walker L, Kennedy M, Platte R, Davidson R, Ellis S, Cole T, Bressac-de Paillerets B, Buecher B, Damiola F, Faivre L, Frenay M, Sinilnikova O, Caron O, Giraud S, Mazoyer S, Bonadona V, Caux-Moncoutier V, Toloczko-Grabarek A, Gronwald J, Byrski T, Spurdle A, Bonanni B, Zaffaroni D, Giannini G, Bernard L, Dolcetti R, Manoukian S, Arnold N, Engel C, Deissler H, Rhiem K, Niederacher D, Plendl H, Sutter C, Wappenschmidt B, Borg Å, Melin B, Rantala J, Soller M, Nathanson K, Domchek S, Rodriguez G, Salani R, Kaulich D, Tea M, Paluch S, Laitman Y, Skytte A, Kruse T, Jensen U, Robson M, Gerdes A, Ejlertsen B, Foretova L, Savage S, Lester J, Soucy P, Kuchenbaecker K, Olswold C, Cunningham J, Slager S, Pankratz V, Dicks E, Lakhani S, Couch F, Hall P, Monteiro A, Gayther S, Pharoah P, Reddel R, Goode E, Greene M, Easton D, Berchuck A, Antoniou A, Chenevix-Trench G, Dunning A. Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nature Genetics 2013, 45: 371-384. PMID: 23535731, PMCID: PMC3670748, DOI: 10.1038/ng.2566.Peer-Reviewed Original ResearchMeSH KeywordsAlternative SplicingBiomarkers, TumorBreast NeoplasmsCase-Control StudiesChromatinDNA MethylationFemaleGene Expression ProfilingGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansLuciferasesOligonucleotide Array Sequence AnalysisOvarian NeoplasmsPolymorphism, Single NucleotideReal-Time Polymerase Chain ReactionReverse Transcriptase Polymerase Chain ReactionRisk FactorsRNA, MessengerTelomeraseTelomereConceptsMultiple independent variantsTelomere lengthTERT-CLPTM1L locusTERT locusFunctional studiesOvarian cancer susceptibilityOvarian cancer tissuesMean telomere lengthLociIndependent variantsCommon variantsCell linesCancer susceptibilityRisk of breastCancer tissuesOvarian cancerVariantsWhole bloodBreastA Resequence Analysis of Genomic Loci on Chromosomes 1q32.1, 5p15.33, and 13q22.1 Associated With Pancreatic Cancer Risk
Parikh H, Jia J, Zhang X, Chung CC, Jacobs KB, Yeager M, Boland J, Hutchinson A, Burdett L, Hoskins J, Risch HA, Stolzenberg-Solomon RZ, Chanock SJ, Wolpin BM, Petersen GM, Fuchs CS, Hartge P, Amundadottir L. A Resequence Analysis of Genomic Loci on Chromosomes 1q32.1, 5p15.33, and 13q22.1 Associated With Pancreatic Cancer Risk. Pancreas 2013, 42: 209-215. PMID: 23295781, PMCID: PMC3618611, DOI: 10.1097/mpa.0b013e318264cea5.Peer-Reviewed Original ResearchMeSH KeywordsChromosomes, Human, Pair 1Chromosomes, Human, Pair 13Chromosomes, Human, Pair 5Databases, GeneticGene FrequencyGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyHaplotypesHumansLinkage DisequilibriumPancreatic NeoplasmsPolymorphism, Single NucleotideRacial GroupsRisk AssessmentRisk FactorsSequence Analysis, DNAConceptsGenome-wide association studiesSingle nucleotide polymorphismsChromosome 1q32.1Novel single nucleotide polymorphismsTag SNP analysisResequence analysisGenomic lociLess common variantsContinental populationsGenomic regionsGenome dataRoche 454GWAS dataAssociation studiesHapMap samplesSusceptibility lociHaplotype blocksSNP analysisAnalytical pipelineGermline variationSusceptibility regionsCommon variantsEuropean populationsGermline sequencesLoci
2012
Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus
Su Z, Gay LJ, Strange A, Palles C, Band G, Whiteman DC, Lescai F, Langford C, Nanji M, Edkins S, van der Winkel A, Levine D, Sasieni P, Bellenguez C, Howarth K, Freeman C, Trudgill N, Tucker AT, Pirinen M, Peppelenbosch MP, van der Laan LJ, Kuipers EJ, Drenth JP, Peters WH, Reynolds JV, Kelleher DP, McManus R, Grabsch H, Prenen H, Bisschops R, Krishnadath K, Siersema PD, van Baal JW, Middleton M, Petty R, Gillies R, Burch N, Bhandari P, Paterson S, Edwards C, Penman I, Vaidya K, Ang Y, Murray I, Patel P, Ye W, Mullins P, Wu AH, Bird NC, Dallal H, Shaheen NJ, Murray LJ, Koss K, Bernstein L, Romero Y, Hardie LJ, Zhang R, Winter H, Corley DA, Panter S, Risch HA, Reid BJ, Sargeant I, Gammon MD, Smart H, Dhar A, McMurtry H, Ali H, Liu G, Casson AG, Chow WH, Rutter M, Tawil A, Morris D, Nwokolo C, Isaacs P, Rodgers C, Ragunath K, MacDonald C, Haigh C, Monk D, Davies G, Wajed S, Johnston D, Gibbons M, Cullen S, Church N, Langley R, Griffin M, Alderson D, Deloukas P, Hunt SE, Gray E, Dronov S, Potter SC, Tashakkori-Ghanbaria A, Anderson M, Brooks C, Blackwell JM, Bramon E, Brown MA, Casas JP, Corvin A, Duncanson A, Markus HS, Mathew CG, Palmer CN, Plomin R, Rautanen A, Sawcer SJ, Trembath RC, Viswanathan AC, Wood N, Trynka G, Wijmenga C, Cazier JB, Atherfold P, Nicholson AM, Gellatly NL, Glancy D, Cooper SC, Cunningham D, Lind T, Hapeshi J, Ferry D, Rathbone B, Brown J, Love S, Attwood S, MacGregor S, Watson P, Sanders S, Ek W, Harrison RF, Moayyedi P, de Caestecker J, Barr H, Stupka E, Vaughan TL, Peltonen L, Spencer CC, Tomlinson I, Donnelly P, Jankowski JA. Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus. Nature Genetics 2012, 44: 1131-1136. PMID: 22961001, PMCID: PMC3459818, DOI: 10.1038/ng.2408.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedBarrett EsophagusCase-Control StudiesChromosomes, Human, Pair 16FemaleGene FrequencyGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansLinkage DisequilibriumMajor Histocompatibility ComplexMaleMiddle AgedModels, GeneticPolymorphism, Single Nucleotide
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 casesMicroRNAsKbMiRNAVariants
2009
Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer
Amundadottir L, Kraft P, Stolzenberg-Solomon RZ, Fuchs CS, Petersen GM, Arslan AA, Bueno-de-Mesquita HB, Gross M, Helzlsouer K, Jacobs EJ, LaCroix A, Zheng W, Albanes D, Bamlet W, Berg CD, Berrino F, Bingham S, Buring JE, Bracci PM, Canzian F, Clavel-Chapelon F, Clipp S, Cotterchio M, de Andrade M, Duell EJ, Fox Jr J, Gallinger S, Gaziano JM, Giovannucci EL, Goggins M, González CA, Hallmans G, Hankinson SE, Hassan M, Holly EA, Hunter DJ, Hutchinson A, Jackson R, Jacobs KB, Jenab M, Kaaks R, Klein AP, Kooperberg C, Kurtz RC, Li D, Lynch SM, Mandelson M, McWilliams RR, Mendelsohn JB, Michaud DS, Olson SH, Overvad K, Patel AV, Peeters PH, Rajkovic A, Riboli E, Risch HA, Shu XO, Thomas G, Tobias GS, Trichopoulos D, Van Den Eeden SK, Virtamo J, Wactawski-Wende J, Wolpin BM, Yu H, Yu K, Zeleniuch-Jacquotte A, Chanock SJ, Hartge P, Hoover RN. Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer. Nature Genetics 2009, 41: 986-990. PMID: 19648918, PMCID: PMC2839871, DOI: 10.1038/ng.429.Peer-Reviewed Original ResearchMeSH KeywordsABO Blood-Group SystemAllelesCase-Control StudiesChromosomes, Human, Pair 9Cohort StudiesFemaleGene FrequencyGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyGenotypeHaplotypesHumansIntronsLinkage DisequilibriumLogistic ModelsMaleOdds RatioPancreatic NeoplasmsPolymorphism, Single NucleotideProspective StudiesRisk FactorsUnited States
2008
Ovarian cancer risk is associated with a common variant in the promoter sequence of the mismatch repair gene MLH1
Harley I, Rosen B, Risch HA, Siminovitch K, Beiner ME, McLaughlin J, Sun P, Narod SA. Ovarian cancer risk is associated with a common variant in the promoter sequence of the mismatch repair gene MLH1. Gynecologic Oncology 2008, 109: 384-387. PMID: 18405947, PMCID: PMC3060029, DOI: 10.1016/j.ygyno.2007.11.046.Peer-Reviewed Original ResearchConceptsHereditary non-polyposis colon cancer syndromeInvasive ovarian cancerOvarian cancerMLH1 genePolymorphic variantsOvarian cancer riskColon cancer syndromesMismatch repair genes MLH1Endometrial cancerClear cellsCancer riskCardinal featuresCancer syndromesCancerGenes MLH1Proportion of familiesSignificant riskSyndromeColonCommon variantsRiskEthnic groupsPredisposesHistologyVariants