2020
Estimation of the carrier frequency of fumarate hydratase alterations and implications for kidney cancer risk in hereditary leiomyomatosis and renal cancer
Shuch B, Li S, Risch H, Bindra RS, McGillivray PD, Gerstein M. Estimation of the carrier frequency of fumarate hydratase alterations and implications for kidney cancer risk in hereditary leiomyomatosis and renal cancer. Cancer 2020, 126: 3657-3666. PMID: 32413184, PMCID: PMC10316675, DOI: 10.1002/cncr.32914.Peer-Reviewed Original ResearchConceptsFumarate hydrataseExome Aggregation ConsortiumAllele frequenciesFH geneGenome ProjectDifferent world populationsFH alterationsHereditary leiomyomatosisKidney cancer riskCancer penetranceMissense alterationsGenesOverall allele frequencyRare variantsLow penetranceRenal cancerExACKidney cancerCancer riskPenetranceGermline mutationsLethal formWorld populationCancer syndromesAlterations
2018
Identification of nine new susceptibility loci for endometrial cancer
O’Mara T, Glubb DM, Amant F, Annibali D, Ashton K, Attia J, Auer PL, Beckmann MW, Black A, Bolla MK, Brauch H, Brenner H, Brinton L, Buchanan DD, Burwinkel B, Chang-Claude J, Chanock SJ, Chen C, Chen MM, Cheng THT, Clarke CL, Clendenning M, Cook LS, Couch FJ, Cox A, Crous-Bous M, Czene K, Day F, Dennis J, Depreeuw J, Doherty JA, Dörk T, Dowdy SC, Dürst M, Ekici AB, Fasching PA, Fridley BL, Friedenreich CM, Fritschi L, Fung J, García-Closas M, Gaudet MM, Giles GG, Goode EL, Gorman M, Haiman CA, Hall P, Hankison SE, Healey CS, Hein A, Hillemanns P, Hodgson S, Hoivik EA, Holliday EG, Hopper JL, Hunter DJ, Jones A, Krakstad C, Kristensen VN, Lambrechts D, Marchand LL, Liang X, Lindblom A, Lissowska J, Long J, Lu L, Magliocco AM, Martin L, McEvoy M, Meindl A, Michailidou K, Milne RL, Mints M, Montgomery GW, Nassir R, Olsson H, Orlow I, Otton G, Palles C, Perry JRB, Peto J, Pooler L, Prescott J, Proietto T, Rebbeck TR, Risch HA, Rogers PAW, Rübner M, Runnebaum I, Sacerdote C, Sarto GE, Schumacher F, Scott RJ, Setiawan VW, Shah M, Sheng X, Shu XO, Southey MC, Swerdlow AJ, Tham E, Trovik J, Turman C, Tyrer JP, Vachon C, VanDen Berg D, Vanderstichele A, Wang Z, Webb PM, Wentzensen N, Werner HMJ, Winham SJ, Wolk A, Xia L, Xiang YB, Yang HP, Yu H, Zheng W, Pharoah PDP, Dunning AM, Kraft P, De Vivo I, Tomlinson I, Easton DF, Spurdle AB, Thompson DJ. Identification of nine new susceptibility loci for endometrial cancer. Nature Communications 2018, 9: 3166. PMID: 30093612, PMCID: PMC6085317, DOI: 10.1038/s41467-018-05427-7.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesCandidate causal genesCausal genesNovel genome-wide significant lociRisk lociEndometrial cancer risk lociGenome-wide significant lociExpression quantitative trait loci (eQTL) analysisQuantitative trait locus (QTL) analysisSignal transduction proteinsCancer risk lociNew susceptibility lociTransduction proteinsSignificant lociLocus analysisNegative regulatorAssociation studiesFemale reproductive tractSusceptibility lociLoci associateLociGenesDecreased expressionReproductive tractRisk alleles
2016
Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with risk of clear cell ovarian cancer
Hampras SS, Sucheston-Campbell LE, Cannioto R, Chang-Claude J, Modugno F, Dörk T, Hillemanns P, Preus L, Knutson KL, Wallace PK, Hong CC, Friel G, Davis W, Nesline M, Pearce CL, Kelemen LE, Goodman MT, Bandera EV, Terry KL, Schoof N, Eng KH, Clay A, Singh PK, Joseph JM, Aben KK, Anton-Culver H, Antonenkova N, Baker H, Bean Y, Beckmann MW, Bisogna M, Bjorge L, Bogdanova N, Brinton LA, Brooks-Wilson A, Bruinsma F, Butzow R, Campbell IG, Carty K, Cook LS, Cramer DW, Cybulski C, Dansonka-Mieszkowska A, Dennis J, Despierre E, Dicks E, Doherty JA, du Bois A, Dürst M, Easton D, Eccles D, Edwards RP, Ekici AB, Fasching PA, Fridley BL, Gao YT, Gentry-Maharaj A, Giles GG, Glasspool R, Gronwald J, Harrington P, Harter P, Hasmad HN, Hein A, Heitz F, Hildebrandt MA, Hogdall C, Hogdall E, Hosono S, Iversen ES, Jakubowska A, Jensen A, Ji BT, Karlan BY, Kellar M, Kelley JL, Kiemeney LA, Klapdor R, Kolomeyevskaya N, Krakstad C, Kjaer SK, Kruszka B, Kupryjanczyk J, Lambrechts D, Lambrechts S, Le ND, Lee AW, Lele S, Leminen A, Lester J, Levine DA, Liang D, Lissowska J, Liu S, Lu K, Lubinski J, Lundvall L, Massuger LF, Matsuo K, McGuire V, McLaughlin JR, McNeish I, Menon U, Moes-Sosnowska J, Narod SA, Nedergaard L, Nevalinna H, Nickels S, Nevanlinna H, Olson S, Orlow I, Weber R, Paul J, Pejovic T, Pelttari L, Perkins B, Permuth-Wey J, Pike M, Plisiecka-Halasa J, Poole E, Risch H, Rossing M, Rothstein J, Rudolph A, Runnebaum I, Rzepecka I, Salvesen H, Schernhammer E, Schmitt K, Schwaab I, Shu X, Shvetsov Y, Siddiqui N, Sieh W, Song H, Southey M, Tangen I, Teo S, Thompson P, Timorek A, Tsai Y, Tworoger S, Tyrer J, van Altena A, Vergote I, Vierkant R, Walsh C, Wang-Gohrke S, Wentzensen N, Whittemore A, Wicklund K, Wilkens L, Wu A, Wu X, Woo Y, Yang H, Zheng W, Ziogas A, Gayther S, Ramus S, Sellers T, Schildkraut J, Phelan C, Berchuck A, Chenevix-Trench G, Cunningham J, Pharoah P, Ness R, Odunsi K, Goode E, Moysich K. Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with risk of clear cell ovarian cancer. Oncotarget 2016, 7: 69097-69110. PMID: 27533245, PMCID: PMC5340115, DOI: 10.18632/oncotarget.10215.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinoma, Clear CellAdultAgedCarcinoma, Ovarian EpithelialFemaleGene Expression Regulation, NeoplasticGene FrequencyGenetic Predisposition to DiseaseGenotypeHumansMiddle AgedNeoplasms, Glandular and EpithelialOvarian NeoplasmsPolymorphism, Single NucleotideProtein Serine-Threonine KinasesReceptor, Transforming Growth Factor-beta Type IIReceptors, Transforming Growth Factor betaRisk FactorsT-Lymphocytes, RegulatoryConceptsOvarian cancerEpithelial ovarian cancer casesClear cell ovarian cancerClear cell EOCMediators of immunosuppressionSignificant global associationSubset of CD4Regulatory T cellsCell pathwaysOvarian cancer patientsOvarian cancer casesImmune complex receptorsGene-level associationsHistologic subtypeEOC patientsSignificant single SNP associationCancer patientsCancer casesT cellsT lymphocytesClear cellsImmune moleculesMRNA expressionCancerExpression levels
2015
Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer
Childs EJ, Mocci E, Campa D, Bracci PM, Gallinger S, Goggins M, Li D, Neale RE, Olson SH, Scelo G, Amundadottir LT, Bamlet WR, Bijlsma MF, Blackford A, Borges M, Brennan P, Brenner H, Bueno-de-Mesquita HB, Canzian F, Capurso G, Cavestro GM, Chaffee KG, Chanock SJ, Cleary SP, Cotterchio M, Foretova L, Fuchs C, Funel N, Gazouli M, Hassan M, Herman JM, Holcatova I, Holly EA, Hoover RN, Hung RJ, Janout V, Key TJ, Kupcinskas J, Kurtz RC, Landi S, Lu L, Malecka-Panas E, Mambrini A, Mohelnikova-Duchonova B, Neoptolemos JP, Oberg AL, Orlow I, Pasquali C, Pezzilli R, Rizzato C, Saldia A, Scarpa A, Stolzenberg-Solomon RZ, Strobel O, Tavano F, Vashist YK, Vodicka P, Wolpin BM, Yu H, Petersen GM, Risch HA, Klein AP. Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer. Nature Genetics 2015, 47: 911-916. PMID: 26098869, PMCID: PMC4520746, DOI: 10.1038/ng.3341.Peer-Reviewed Original ResearchMeSH KeywordsAgedAustraliaChromosomes, Human, Pair 17Chromosomes, Human, Pair 2Chromosomes, Human, Pair 3Chromosomes, Human, Pair 7EuropeFemaleGene FrequencyGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansMaleMiddle AgedNorth AmericaPancreatic NeoplasmsPolymorphism, Single NucleotideRisk Factors
2014
Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33
Wang Z, Zhu B, Zhang M, Parikh H, Jia J, Chung CC, Sampson JN, Hoskins JW, Hutchinson A, Burdette L, Ibrahim A, Hautman C, Raj PS, Abnet CC, Adjei AA, Ahlbom A, Albanes D, Allen NE, Ambrosone CB, Aldrich M, Amiano P, Amos C, Andersson U, Andriole G, Andrulis IL, Arici C, Arslan AA, Austin MA, Baris D, Barkauskas DA, Bassig BA, Beane Freeman LE, Berg CD, Berndt SI, Bertazzi PA, Biritwum RB, Black A, Blot W, Boeing H, Boffetta P, Bolton K, Boutron-Ruault MC, Bracci PM, Brennan P, Brinton LA, Brotzman M, Bueno-de-Mesquita HB, Buring JE, Butler MA, Cai Q, Cancel-Tassin G, Canzian F, Cao G, Caporaso NE, Carrato A, Carreon T, Carta A, Chang GC, Chang IS, Chang-Claude J, Che X, Chen CJ, Chen CY, Chen CH, Chen C, Chen KY, Chen YM, Chokkalingam AP, Chu LW, Clavel-Chapelon F, Colditz GA, Colt JS, Conti D, Cook MB, Cortessis VK, Crawford ED, Cussenot O, Davis FG, De Vivo I, Deng X, Ding T, Dinney CP, Di Stefano AL, Diver WR, Duell EJ, Elena JW, Fan JH, Feigelson HS, Feychting M, Figueroa JD, Flanagan AM, Fraumeni JF, Freedman ND, Fridley BL, Fuchs CS, Gago-Dominguez M, Gallinger S, Gao YT, Gapstur SM, Garcia-Closas M, Garcia-Closas R, Gastier-Foster JM, Gaziano JM, Gerhard DS, Giffen CA, Giles GG, Gillanders EM, Giovannucci EL, Goggins M, Gokgoz N, Goldstein AM, Gonzalez C, Gorlick R, Greene MH, Gross M, Grossman HB, Grubb R, Gu J, Guan P, Haiman CA, Hallmans G, Hankinson SE, Harris CC, Hartge P, Hattinger C, Hayes RB, He Q, Helman L, Henderson BE, Henriksson R, Hoffman-Bolton J, Hohensee C, Holly EA, Hong YC, Hoover RN, Hosgood HD, Hsiao CF, Hsing AW, Hsiung CA, Hu N, Hu W, Hu Z, Huang MS, Hunter DJ, Inskip PD, Ito H, Jacobs EJ, Jacobs KB, Jenab M, Ji BT, Johansen C, Johansson M, Johnson A, Kaaks R, Kamat AM, Kamineni A, Karagas M, Khanna C, Khaw KT, Kim C, Kim IS, Kim JH, Kim YH, Kim YC, Kim YT, Kang CH, Jung YJ, Kitahara CM, Klein AP, Klein R, Kogevinas M, Koh WP, Kohno T, Kolonel LN, Kooperberg C, Kratz CP, Krogh V, Kunitoh H, Kurtz RC, Kurucu N, Lan Q, Lathrop M, Lau CC, Lecanda F, Lee KM, Lee MP, Le Marchand L, Lerner SP, Li D, Liao LM, Lim WY, Lin D, Lin J, Lindstrom S, Linet MS, Lissowska J, Liu J, Ljungberg B, Lloreta J, Lu D, Ma J, Malats N, Mannisto S, Marina N, Mastrangelo G, Matsuo K, McGlynn KA, McKean-Cowdin R, McNeill LH, McWilliams RR, Melin BS, Meltzer PS, Mensah JE, Miao X, Michaud DS, Mondul AM, Moore LE, Muir K, Niwa S, Olson SH, Orr N, Panico S, Park JY, Patel AV, Patino-Garcia A, Pavanello S, Peeters PH, Peplonska B, Peters U, Petersen GM, Picci P, Pike MC, Porru S, Prescott J, Pu X, Purdue MP, Qiao YL, Rajaraman P, Riboli E, Risch HA, Rodabough RJ, Rothman N, Ruder AM, Ryu JS, Sanson M, Schned A, Schumacher FR, Schwartz AG, Schwartz KL, Schwenn M, Scotlandi K, Seow A, Serra C, Serra M, Sesso HD, Severi G, Shen H, Shen M, Shete S, Shiraishi K, Shu XO, Siddiq A, Sierrasesumaga L, Sierri S, Loon Sihoe AD, Silverman DT, Simon M, Southey MC, Spector L, Spitz M, Stampfer M, Stattin P, Stern MC, Stevens VL, Stolzenberg-Solomon RZ, Stram DO, Strom SS, Su WC, Sund M, Sung SW, Swerdlow A, Tan W, Tanaka H, Tang W, Tang ZZ, Tardon A, Tay E, Taylor PR, Tettey Y, Thomas DM, Tirabosco R, Tjonneland A, Tobias GS, Toro JR, Travis RC, Trichopoulos D, Troisi R, Truelove A, Tsai YH, Tucker MA, Tumino R, Van Den Berg D, Van Den Eeden SK, Vermeulen R, Vineis P, Visvanathan K, Vogel U, Wang C, Wang C, Wang J, Wang SS, Weiderpass E, Weinstein SJ, Wentzensen N, Wheeler W, White E, Wiencke JK, Wolk A, Wolpin BM, Wong MP, Wrensch M, Wu C, Wu T, Wu X, Wu YL, Wunder JS, Xiang YB, Xu J, Yang HP, Yang PC, Yatabe Y, Ye Y, Yeboah ED, Yin Z, Ying C, Yu CJ, Yu K, Yuan JM, Zanetti KA, Zeleniuch-Jacquotte A, Zheng W, Zhou B, Mirabello L, Savage SA, Kraft P, Chanock SJ, Yeager M, Landi MT, Shi J, Chatterjee N, Amundadottir LT. Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33. Human Molecular Genetics 2014, 23: 6616-6633. PMID: 25027329, PMCID: PMC4240198, DOI: 10.1093/hmg/ddu363.Peer-Reviewed Original ResearchMeSH KeywordsAllelesChromosomes, Human, Pair 5Computational BiologyDNA MethylationEpigenesis, GeneticFemaleGene Expression Regulation, NeoplasticGene FrequencyGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMembrane ProteinsNeoplasm ProteinsNeoplasmsOdds RatioPolymorphism, Single NucleotideRiskTelomeraseConceptsGenome-wide association studiesIndependent risk lociRisk lociCLPTM1L geneSequential conditional analysesTERT-CLPTM1L regionAllele-specific effectsDistinct cancersCommon susceptibility allelesCancer susceptibility lociTelomerase reverse transcriptaseCommon single nucleotide polymorphismsGenetic architectureCatalytic subunitSingle nucleotide polymorphismsDNA methylationIndependent lociExtensive pleiotropyGene expressionAssociation studiesAssociation analysisSusceptibility lociDifferent cancer typesLociTERT geneExome-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
A 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
2009
A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2
Song H, Ramus SJ, Tyrer J, Bolton KL, Gentry-Maharaj A, Wozniak E, Anton-Culver H, Chang-Claude J, Cramer DW, DiCioccio R, Dörk T, Goode EL, Goodman MT, Schildkraut JM, Sellers T, Baglietto L, Beckmann MW, Beesley J, Blaakaer J, Carney ME, Chanock S, Chen Z, Cunningham JM, Dicks E, Doherty JA, Dürst M, Ekici AB, Fenstermacher D, Fridley BL, Giles G, Gore ME, De Vivo I, Hillemanns P, Hogdall C, Hogdall E, Iversen ES, Jacobs IJ, Jakubowska A, Li D, Lissowska J, Lubiński J, Lurie G, McGuire V, McLaughlin J, Mędrek K, Moorman PG, Moysich K, Narod S, Phelan C, Pye C, Risch H, Runnebaum IB, Severi G, Southey M, Stram DO, Thiel FC, Terry KL, Tsai YY, Tworoger SS, Van Den Berg DJ, Vierkant RA, Wang-Gohrke S, Webb PM, Wilkens LR, Wu AH, Yang H, Brewster W, Ziogas A, Houlston R, Tomlinson I, Whittemore A, Rossing M, Ponder B, Pearce C, Ness R, Menon U, Kjaer S, Gronwald J, Garcia-Closas M, Fasching P, Easton D, Chenevix-Trench G, Berchuck A, Pharoah P, Gayther S. A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2. Nature Genetics 2009, 41: 996-1000. PMID: 19648919, PMCID: PMC2844110, DOI: 10.1038/ng.424.Peer-Reviewed Original ResearchMeSH KeywordsAllelesAustraliaBase SequenceCase-Control StudiesChromosome MappingChromosomes, Human, Pair 9Confidence IntervalsEuropeFemaleGene FrequencyGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHaplotypesHeterozygoteHomozygoteHumansLinkage DisequilibriumMolecular Sequence DataOdds RatioOvarian NeoplasmsPolymorphism, Single NucleotideRisk FactorsUnited StatesWhite PeopleGenome-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 StatesCD14-159C/T and TLR9-1237T/C polymorphisms are not associated with gastric cancer risk in Caucasian populations
Hold GL, Rabkin CS, Gammon MD, Berry SH, Smith MG, Lissowska J, Risch HA, Chow WH, Mowat NA, Vaughan TL, El-Omar EM. CD14-159C/T and TLR9-1237T/C polymorphisms are not associated with gastric cancer risk in Caucasian populations. European Journal Of Cancer Prevention 2009, 18: 117-119. PMID: 19337058, PMCID: PMC2679029, DOI: 10.1097/cej.0b013e3283101292.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaCase-Control StudiesEsophageal NeoplasmsFemaleGene FrequencyGenetic Predisposition to DiseaseGenetics, PopulationHumansLinkage DisequilibriumLipopolysaccharide ReceptorsMalePolandPolymorphism, Single NucleotidePromoter Regions, GeneticRisk FactorsStomach NeoplasmsToll-Like Receptor 9United StatesWhite PeopleConceptsCD14-159C/TC promoter polymorphismCase-control studyGastric cancerPromoter polymorphismGastric cancer case-control studyTLR9 -1237T/C polymorphismPopulation-based case-control studyUpper gastrointestinal tract cancerHelicobacter pylori-induced gastritisCD14-159C/T polymorphismToll-like receptor signalingCaucasian populationFrequency-matched controlsGastrointestinal tract cancerPylori-induced gastritisUpper gastrointestinal tractCancer case-control studySingle nucleotide polymorphismsHost genetic factorsPotential confounding factorsGastric cancer riskTaiwanese Chinese populationGastric carcinoma casesNoncardia gastric carcinoma
2007
Alcohol dehydrogenase 3 and risk of esophageal and gastric adenocarcinomas
Terry MB, Gammon MD, Zhang FF, Vaughan TL, Chow WH, Risch HA, Schoenberg JB, Mayne ST, Stanford JL, West AB, Rotterdam H, Blot WJ, Fraumeni JF, Santella RM. Alcohol dehydrogenase 3 and risk of esophageal and gastric adenocarcinomas. Cancer Causes & Control 2007, 18: 1039-1046. PMID: 17665311, DOI: 10.1007/s10552-007-9046-0.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaAdultAgedAlcohol DehydrogenaseAlcohol DrinkingAllelesCase-Control StudiesChi-Square DistributionConfidence IntervalsEsophageal NeoplasmsFemaleGene FrequencyGenotypeHomozygoteHumansInterviews as TopicLogistic ModelsMaleMiddle AgedOdds RatioPolymorphism, GeneticRisk FactorsStomach NeoplasmsUnited StatesConceptsRisk of esophagealEsophageal adenocarcinomaHigh riskGastric Cancer StudyGastric cardia adenocarcinomaGastric adenocarcinomaCarcinoma riskConclusionThese dataCancer riskCardia adenocarcinomaTumor typesAdenocarcinomaAlcohol dehydrogenase 3Common polymorphismsEsophagealRisk estimatesCancer studiesRiskAlcohol dehydrogenase 3 geneDrinkersDehydrogenase 3PolymorphismNondrinkersMethodsWeGenotypes
2006
A Functional Polymorphism of Toll-Like Receptor 4 Gene Increases Risk of Gastric Carcinoma and Its Precursors
Hold GL, Rabkin CS, Chow W, Smith MG, Gammon MD, Risch HA, Vaughan TL, McColl KE, Lissowska J, Zatonski W, Schoenberg JB, Blot WJ, Mowat NA, Fraumeni JF, El–Omar E. A Functional Polymorphism of Toll-Like Receptor 4 Gene Increases Risk of Gastric Carcinoma and Its Precursors. Gastroenterology 2006, 132: 905-912. PMID: 17324405, DOI: 10.1053/j.gastro.2006.12.026.Peer-Reviewed Original ResearchMeSH KeywordsAchlorhydriaCarcinomaCase-Control StudiesCohort StudiesEuropeFemaleGastritis, AtrophicGene Expression Regulation, NeoplasticGene FrequencyGenetic Predisposition to DiseaseGenotypeHelicobacter InfectionsHelicobacter pyloriHumansLogistic ModelsMaleOdds RatioPhenotypePolymorphism, GeneticPopulation SurveillancePrecancerous ConditionsRegistriesRisk AssessmentRisk FactorsStomach NeoplasmsToll-Like Receptor 4United StatesConceptsH pylori infectionGastric carcinoma patientsNoncardia gastric carcinomaOdds ratioGastric carcinomaCardia carcinomaGastric atrophyCarcinoma patientsPylori infectionG polymorphismPopulation-based case-control studyUpper gastrointestinal tract cancerSevere gastric atrophyFrequency-matched controlsGastric acid outputGastrointestinal tract cancerGastric cancer patientsGastric cardia carcinomaCase-control studyEsophageal squamous cellsPotential confounding factorsGastric carcinoma casesGastric changesTract cancerAcid outputPopulation BRCA1 and BRCA2 Mutation Frequencies and Cancer Penetrances: A Kin–Cohort Study in Ontario, Canada
Risch HA, McLaughlin JR, Cole DE, Rosen B, Bradley L, Fan I, Tang J, Li S, Zhang S, Shaw PA, Narod SA. Population BRCA1 and BRCA2 Mutation Frequencies and Cancer Penetrances: A Kin–Cohort Study in Ontario, Canada. Journal Of The National Cancer Institute 2006, 98: 1694-1706. PMID: 17148771, DOI: 10.1093/jnci/djj465.Peer-Reviewed Original ResearchConceptsIncident ovarian cancerAge 80 yearsGeneral Ontario populationOvarian cancerBRCA2 mutationsTypes of cancerMutation carriageCumulative incidenceRelative riskBreast cancerHigh riskGeneral populationBRCA1 mutationsInvasive ovarian cancerCancer incidence ratesFirst-degree relativesBRCA2 mutation frequencyOntario populationUnselected patientsMale breastTestis cancerCancer outcomesPancreatic cancerIncidence rateCancer risk
2000
BRCA1 and BRCA2 Mutation Analysis of 208 Ashkenazi Jewish Women with Ovarian Cancer
Moslehi R, Chu W, Karlan B, Fishman D, Risch H, Fields A, Smotkin D, Ben-David Y, Rosenblatt J, Russo D, Schwartz P, Tung N, Warner E, Rosen B, Friedman J, Brunet J, Narod S. BRCA1 and BRCA2 Mutation Analysis of 208 Ashkenazi Jewish Women with Ovarian Cancer. American Journal Of Human Genetics 2000, 66: 1259-1272. PMID: 10739756, PMCID: PMC1288193, DOI: 10.1086/302853.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overBRCA2 ProteinBreast NeoplasmsDNA Mutational AnalysisFemaleFounder EffectGene FrequencyGenes, BRCA1Genetic Predisposition to DiseaseHumansIncidenceIsraelJewsMaleMiddle AgedMutationNeoplasm ProteinsNeoplasm StagingNorth AmericaOvarian NeoplasmsPedigreeTranscription FactorsConceptsFemale first-degree relativesAge 75 yearsOvarian cancerFirst-degree relativesBreast cancerAshkenazi Jewish womenHereditary breast-ovarian cancer syndromeBreast-ovarian cancer syndromeObserved excess riskFounder mutationFamilial cancer riskDetailed family historyBRCA2 mutation analysisCumulative incidenceExcess riskHealthy controlsRelative riskFamily historyMedical CenterCancer riskCancer syndromesAshkenazi Jewish populationControl populationProtein truncation testBRCA2 genes