2021
A 584 bp deletion in CTRB2 inhibits chymotrypsin B2 activity and secretion and confers risk of pancreatic cancer
Jermusyk A, Zhong J, Connelly KE, Gordon N, Perera S, Abdolalizadeh E, Zhang T, O’Brien A, Hoskins JW, Collins I, Eiser D, Yuan C, Consortium P, Consortium P, Albanes D, Arslan A, Gurrea A, Beane-Freeman L, Bracci P, Bueno-de-Mesquita B, Buring J, Canzian F, Gallinger S, Gaziano J, Giles G, Goodman P, Johansson M, Kooperberg C, LeMarchand L, Malats N, Neale R, Panico S, Peters U, Real F, Shu X, Sund M, Thornquist M, Tjønneland A, Travis R, Van Den Eeden S, Visvanathan K, Zheng W, Kraft P, Risch H, Jacobs E, Li D, Du M, Stolzenberg-Solomon R, Klein A, Smith J, Wolpin B, Chanock S, Shi J, Petersen G, Westlake C, Amundadottir L. A 584 bp deletion in CTRB2 inhibits chymotrypsin B2 activity and secretion and confers risk of pancreatic cancer. American Journal Of Human Genetics 2021, 108: 1852-1865. PMID: 34559995, PMCID: PMC8546220, DOI: 10.1016/j.ajhg.2021.09.002.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesB2 proteinEndoplasmic reticulumDeletion allelePremature stop codonHuman genomeGWAS datasetsSuch lociRisk lociAssociation studiesStop codonER stressCTRB2Pancreatic ductal adenocarcinomaBp deletionExon 6European ancestryLociExon 7Intracellular accumulationExon 5ProteinGermline variantsChymotrypsin activityAlleles
2018
Genome-wide meta-analysis identifies five new susceptibility loci for pancreatic cancer
Klein AP, Wolpin BM, Risch HA, Stolzenberg-Solomon RZ, Mocci E, Zhang M, Canzian F, Childs EJ, Hoskins JW, Jermusyk A, Zhong J, Chen F, Albanes D, Andreotti G, Arslan AA, Babic A, Bamlet WR, Beane-Freeman L, Berndt SI, Blackford A, Borges M, Borgida A, Bracci PM, Brais L, Brennan P, Brenner H, Bueno-de-Mesquita B, Buring J, Campa D, Capurso G, Cavestro GM, Chaffee KG, Chung CC, Cleary S, Cotterchio M, Dijk F, Duell EJ, Foretova L, Fuchs C, Funel N, Gallinger S, M. Gaziano JM, Gazouli M, Giles GG, Giovannucci E, Goggins M, Goodman GE, Goodman PJ, Hackert T, Haiman C, Hartge P, Hasan M, Hegyi P, Helzlsouer KJ, Herman J, Holcatova I, Holly EA, Hoover R, Hung RJ, Jacobs EJ, Jamroziak K, Janout V, Kaaks R, Khaw KT, Klein EA, Kogevinas M, Kooperberg C, Kulke MH, Kupcinskas J, Kurtz RJ, Laheru D, Landi S, Lawlor RT, Lee I, LeMarchand L, Lu L, Malats N, Mambrini A, Mannisto S, Milne RL, Mohelníková-Duchoňová B, Neale RE, Neoptolemos JP, Oberg AL, Olson SH, Orlow I, Pasquali C, Patel AV, Peters U, Pezzilli R, Porta M, Real FX, Rothman N, Scelo G, Sesso HD, Severi G, Shu XO, Silverman D, Smith JP, Soucek P, Sund M, Talar-Wojnarowska R, Tavano F, Thornquist MD, Tobias GS, Van Den Eeden SK, Vashist Y, Visvanathan K, Vodicka P, Wactawski-Wende J, Wang Z, Wentzensen N, White E, Yu H, Yu K, Zeleniuch-Jacquotte A, Zheng W, Kraft P, Li D, Chanock S, Obazee O, Petersen GM, Amundadottir LT. Genome-wide meta-analysis identifies five new susceptibility loci for pancreatic cancer. Nature Communications 2018, 9: 556. PMID: 29422604, PMCID: PMC5805680, DOI: 10.1038/s41467-018-02942-5.Peer-Reviewed Original ResearchMeSH KeywordsCarcinoma, Pancreatic DuctalDatabases, GeneticGenetic Predisposition to DiseaseGenome-Wide Association StudyHepatocyte Nuclear Factor 1-betaHepatocyte Nuclear Factor 4HumansIntercellular Signaling Peptides and ProteinsIntracellular Signaling Peptides and ProteinsPancreatic NeoplasmsPolymorphism, Single NucleotideProteinsRepressor ProteinsTensinsConceptsNew genome-wide significant lociGenome-wide significant lociExpression quantitative trait loci (eQTL) analysisQuantitative trait locus (QTL) analysisPANcreatic Disease ReseArch (PANDoRA) consortiumNew susceptibility lociPancreatic cancer susceptibility genesCommon susceptibility allelesCancer susceptibility genesSignificant lociPancreatic Cancer Case-Control ConsortiumMolecular supportPancreatic Cancer Cohort ConsortiumLocus analysisSusceptibility lociSusceptibility genesSusceptibility allelesEuropean ancestryNovel associationsLociPancreatic cancerConsortiumGWASGenesAlleles
2013
Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer
Shen H, Fridley BL, Song H, Lawrenson K, Cunningham JM, Ramus SJ, Cicek MS, Tyrer J, Stram D, Larson MC, Köbel M, Ziogas A, Zheng W, Yang H, Wu A, Wozniak E, Ling Woo Y, Winterhoff B, Wik E, Whittemore A, Wentzensen N, Palmieri Weber R, Vitonis A, Vincent D, Vierkant R, Vergote I, Van Den Berg D, Van Altena A, Tworoger S, Thompson P, Tessier D, Terry K, Teo S, Templeman C, Stram D, Southey M, Sieh W, Siddiqui N, Shvetsov Y, Shu X, Shridhar V, Wang-Gohrke S, Severi G, Schwaab I, Salvesen H, Rzepecka I, Runnebaum I, Anne Rossing M, Rodriguez-Rodriguez L, Risch H, Renner S, Poole E, Pike M, Phelan C, Pelttari L, Pejovic T, Paul J, Orlow I, Zawiah Omar S, Olson S, Odunsi K, Nickels S, Nevanlinna H, Ness R, Narod S, Nakanishi T, Moysich K, Monteiro A, Moes-Sosnowska J, Modugno F, Menon U, McLaughlin J, McGuire V, Matsuo K, Mat Adenan N, Massuger L, Lurie G, Lundvall L, Lubiński J, Lissowska J, Levine D, Leminen A, Lee A, Le N, Lambrechts S, Lambrechts D, Kupryjanczyk J, Krakstad C, Konecny G, Krüger Kjaer S, Kiemeney L, Kelemen L, Keeney G, Karlan B, Karevan R, Kalli K, Kajiyama H, Ji B, Jensen A, Jakubowska A, Iversen E, Hosono S, Høgdall C, Høgdall E, Hoatlin M, Hillemanns P, Heitz F, Hein R, Harter P, Halle M, Hall P, Gronwald J, Gore M, Goodman M, Giles G, Gentry-Maharaj A, Garcia-Closas M, Flanagan J, Fasching P, Ekici A, Edwards R, Eccles D, Easton D, Dürst M, du Bois A, Dörk T, Doherty J, Despierre E, Dansonka-Mieszkowska A, Cybulski C, Cramer D, Cook L, Chen X, Charbonneau B, Chang-Claude J, Campbell I, Butzow R, Bunker C, Brueggmann D, Brown R, Brooks-Wilson A, Brinton L, Bogdanova N, Block M, Benjamin E, Beesley J, Beckmann M, Bandera E, Baglietto L, Bacot F, Armasu S, Antonenkova N, Anton-Culver H, Aben K, Liang D, Wu X, Lu K, Hildebrandt M, Schildkraut J, Sellers T, Huntsman D, Berchuck A, Chenevix-Trench G, Gayther S, Pharoah P, Laird P, Goode E, Leigh Pearce C. Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer. Nature Communications 2013, 4: 1628. PMID: 23535649, PMCID: PMC3848248, DOI: 10.1038/ncomms2629.Peer-Reviewed Original ResearchConceptsDNA methylationAnalyse DNA methylationClear cell epithelial ovarian cancerSingle nucleotide polymorphismsEpigenetic analysisExpression patternsExpression profilesDifferent single nucleotide polymorphismsCpG island methylator phenotypeSusceptibility genesMethylationDistinct mechanismsGenesMethylator phenotypeHNF1BOvarian cancerRisk allelesSerous epithelial ovarian cancerEpithelial ovarian cancerAssociatesEpithelial ovarian cancer riskGenomePromoterPhenotypeAlleles