2020
Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses
Zhang H, Ahearn TU, Lecarpentier J, Barnes D, Beesley J, Qi G, Jiang X, O’Mara T, Zhao N, Bolla MK, Dunning AM, Dennis J, Wang Q, Ful ZA, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Arun BK, Auer PL, Azzollini J, Barrowdale D, Becher H, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bialkowska K, Blanco A, Blomqvist C, Bogdanova NV, Bojesen SE, Bonanni B, Bondavalli D, Borg A, Brauch H, Brenner H, Briceno I, Broeks A, Brucker SY, Brüning T, Burwinkel B, Buys SS, Byers H, Caldés T, Caligo MA, Calvello M, Campa D, Castelao JE, Chang-Claude J, Chanock SJ, Christiaens M, Christiansen H, Chung WK, Claes KBM, Clarke CL, Cornelissen S, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Diez O, Domchek SM, Dörk T, Dwek M, Eccles DM, Ekici AB, Evans DG, Fasching PA, Figueroa J, Foretova L, Fostira F, Friedman E, Frost D, Gago-Dominguez M, Gapstur SM, Garber J, García-Sáenz JA, Gaudet MM, Gayther SA, Giles GG, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Gronwald J, Guénel P, Häberle L, Hahnen E, Haiman CA, Hake CR, Hall P, Hamann U, Harkness EF, Heemskerk-Gerritsen BAM, Hillemanns P, Hogervorst FBL, Holleczek B, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Howell A, Huebner H, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Jager A, Jakimovska M, Jakubowska A, James P, Janavicius R, Janni W, John E, Jones M, Jung A, Kaaks R, Kapoor P, Karlan B, Keeman R, Khan S, Khusnutdinova E, Kitahara C, Ko Y, Konstantopoulou I, Koppert L, Koutros S, Kristensen V, Laenkholm A, Lambrechts D, Larsson S, Laurent-Puig P, Lazaro C, Lazarova E, Lejbkowicz F, Leslie G, Lesueur F, Lindblom A, Lissowska J, Lo W, Loud J, Lubinski J, Lukomska A, MacInnis R, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez M, Matricardi L, McGuffog L, McLean C, Mebirouk N, Meindl A, Menon U, Miller A, Mingazheva E, Montagna M, Mulligan A, Mulot C, Muranen T, Nathanson K, Neuhausen S, Nevanlinna H, Neven P, Newman W, Nielsen F, Nikitina-Zake L, Nodora J, Offit K, Olah E, Olopade O, Olsson H, Orr N, Papi L, Papp J, Park-Simon T, Parsons M, Peissel B, Peixoto A, Peshkin B, Peterlongo P, Peto J, Phillips K, Piedmonte M, Plaseska-Karanfilska D, Prajzendanc K, Prentice R, Prokofyeva D, Rack B, Radice P, Ramus S, Rantala J, Rashid M, Rennert G, Rennert H, Risch H, Romero A, Rookus M, Rübner M, Rüdiger T, Saloustros E, Sampson S, Sandler D, Sawyer E, Scheuner M, Schmutzler R, Schneeweiss A, Schoemaker M, Schöttker B, Schürmann P, Senter L, Sharma P, Sherman M, Shu X, Singer C, Smichkoska S, Soucy P, Southey M, Spinelli J, Stone J, Stoppa-Lyonnet D, Swerdlow A, Szabo C, Tamimi R, Tapper W, Taylor J, Teixeira M, Terry M, Thomassen M, Thull D, Tischkowitz M, Toland A, Tollenaar R, Tomlinson I, Torres D, Troester M, Truong T, Tung N, Untch M, Vachon C, van den Ouweland A, van der Kolk L, van Veen E, vanRensburg E, Vega A, Wappenschmidt B, Weinberg C, Weitzel J, Wildiers H, Winqvist R, Wolk A, Yang X, Yannoukakos D, Zheng W, Zorn K, Milne R, Kraft P, Simard J, Pharoah P, Michailidou K, Antoniou A, Schmidt M, Chenevix-Trench G, Easton D, Chatterjee N, García-Closas M. Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses. Nature Genetics 2020, 52: 572-581. PMID: 32424353, PMCID: PMC7808397, DOI: 10.1038/s41588-020-0609-2.Peer-Reviewed Original ResearchConceptsSusceptibility lociAssociation studiesGenome-wide association studiesCell-specific enhancerWide association studyNovel breast cancer susceptibility lociNovel susceptibility lociBasal mammary cellsBreast cancer susceptibility lociCancer susceptibility lociTriple-negative diseaseCancer susceptibility variantsChip heritabilityNovel lociPolygenic risk scoresSilico analysisLociSusceptibility variantsGenetic correlationsRisk scoreMammary cellsHuman epidermal growth factor receptor 2 (HER2) statusEpidermal growth factor receptor 2 statusBreast cancer susceptibility variantsEuropean ancestry
2016
Three 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 genesSubjects
2015
Cell-type-specific enrichment of risk-associated regulatory elements at ovarian cancer susceptibility loci
Coetzee S, Shen H, Hazelett D, Lawrenson K, Kuchenbaecker K, Tyrer J, Rhie S, Levanon K, Karst A, Drapkin R, Ramus S, Consortium T, Couch F, Offit K, Chenevix-Trench G, Monteiro A, Antoniou A, Freedman M, Coetzee G, Pharoah P, Noushmehr H, Gayther S, Consortium T, Tyrer J, Anton-Culver H, Antonenkova N, Baker H, Bandera E, Bean Y, Beckmann M, Berchuck A, Bisogna M, Bjorge L, Bogdanova N, Brinton L, Brooks-Wilson A, Bruinsma F, Butzow R, Campbell I, Carty K, Chang-Claude J, Chen A, Chen Z, Cook L, Cramer D, Cunningham J, Cybulski C, Dansonka-Mieszkowska A, Dennis J, Dicks E, Doherty J, Dörk T, du Bois A, Dürst M, 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, Grownwald J, Harrington P, Harter P, Hasmad H, Hein A, Heitz F, Hildebrandt M, Hillemanns P, Hogdall E, Hogdall C, Hosono S, Iversen E, Jakubowska A, James P, Jensen A, Ji B, Karlan B, Kjaer S, Kelemen L, Kellar M, Kelley J, Kiemeney L, Krakstad C, Kupryjanczyk J, Lambrechts D, Lambrechts S, Le N, Lele S, Leminen A, Lester J, Levine D, Liang D, Lissowska J, Lu K, Lubinski J, Lundvall L, Massuger L, Matsuo K, McGuire V, McLaughlin J, McNeish I, Menon U, Modugno F, Moysich K, Narod S, Nedergaard L, Ness R, Azmi M, Odunsi K, Olson S, Orlow I, Orsulic S, Weber R, Pearce C, Pejovic T, Pelttari L, Permuth-Wey J, Phelan C, Pike M, Poole E, Risch H, Rosen B, Rossing M, Rothstein J, Rudolph A, Runnebaum I, Rzepecka I, Salvesen H, Schildkraut J, Schwaab I, 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, Tsai Y, Tworoger S, Tyrer J, van Altena A, 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. Cell-type-specific enrichment of risk-associated regulatory elements at ovarian cancer susceptibility loci. Human Molecular Genetics 2015, 24: 3595-3607. PMID: 25804953, PMCID: PMC4459387, DOI: 10.1093/hmg/ddv101.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsCell typesOvarian cancer susceptibility lociSusceptibility lociFunctional targetSusceptibility variantsComplex trait geneticsRegulatory DNA elementsMost single nucleotide polymorphismsEpithelial cellsHigh-grade serous ovarian cancerHuman mammary epithelial cellsCancer susceptibility lociRisk single nucleotide polymorphismsMammary epithelial cellsNormal human mammary epithelial cellsRisk-associated single nucleotide polymorphismsDifferent cell typesOvarian surface epithelial cellsWide annotationPrecursor cell typesOpen chromatinRegulatory variationGenetic susceptibility variantsHistone modifications
2013
Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31
Permuth-Wey J, Lawrenson K, Shen HC, Velkova A, Tyrer JP, Chen Z, Lin HY, Ann Chen Y, Tsai YY, Qu X, Ramus SJ, Karevan R, Lee J, Lee N, Larson MC, Aben KK, Anton-Culver H, Antonenkova N, Antoniou AC, Armasu SM, Bacot F, Baglietto L, Bandera E, Barnholtz-Sloan J, Beckmann M, Birrer M, Bloom G, Bogdanova N, Brinton L, Brooks-Wilson A, Brown R, Butzow R, Cai Q, Campbell I, Chang-Claude J, Chanock S, Chenevix-Trench G, Cheng J, Cicek M, Coetzee G, Cook L, Couch F, Cramer D, Cunningham J, Dansonka-Mieszkowska A, Despierre E, Doherty J, Dörk T, du Bois A, Dürst M, Easton D, Eccles D, Edwards R, Ekici A, Fasching P, Fenstermacher D, Flanagan J, Garcia-Closas M, Gentry-Maharaj A, Giles G, Glasspool R, Gonzalez-Bosquet J, Goodman M, Gore M, Górski B, Gronwald J, Hall P, Halle M, Harter P, Heitz F, Hillemanns P, Hoatlin M, Høgdall C, Høgdall E, Hosono S, Jakubowska A, Jensen A, Jim H, Kalli K, Karlan B, Kaye S, Kelemen L, Kiemeney L, Kikkawa F, Konecny G, Krakstad C, Krüger Kjaer S, Kupryjanczyk J, Lambrechts D, Lambrechts S, Lancaster J, Le N, Leminen A, Levine D, Liang D, Kiong Lim B, Lin J, Lissowska J, Lu K, Lubiński J, Lurie G, Massuger L, Matsuo K, McGuire V, McLaughlin J, Menon U, Modugno F, Moysich K, Nakanishi T, Narod S, Nedergaard L, Ness R, Nevanlinna H, Nickels S, Noushmehr H, Odunsi K, Olson S, Orlow I, Paul J, Pearce C, Pejovic T, Pelttari L, Pike M, Poole E, Raska P, Renner S, Risch H, Rodriguez-Rodriguez L, Anne Rossing M, Rudolph A, Runnebaum I, Rzepecka I, Salvesen H, Schwaab I, Severi G, Shridhar V, Shu X, Shvetsov Y, Sieh W, Song H, Southey M, Spiewankiewicz B, Stram D, Sutphen R, Teo S, Terry K, Tessier D, Thompson P, Tworoger S, van Altena A, Vergote I, Vierkant R, Vincent D, Vitonis A, Wang-Gohrke S, Palmieri Weber R, Wentzensen N, Whittemore A, Wik E, Wilkens L, Winterhoff B, Ling Woo Y, Wu A, Xiang Y, Yang H, Zheng W, Ziogas A, Zulkifli F, Phelan C, Iversen E, Schildkraut J, Berchuck A, Fridley B, Goode E, Pharoah P, Monteiro A, Sellers T, Gayther S. Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31. Nature Communications 2013, 4: 1627. PMID: 23535648, PMCID: PMC3709460, DOI: 10.1038/ncomms2613.Peer-Reviewed Original ResearchConceptsOvarian cancer susceptibility lociMiRNA-related single nucleotide polymorphismsEOC susceptibilityIntegrated molecular analysisCommon susceptibility variantsCancer susceptibility lociEOC susceptibility genesCollaborative Oncological Gene-environment StudyInversion polymorphismSingle nucleotide polymorphismsUntranslated regionHeritable componentMolecular characterizationSusceptibility lociAdditional genotypingFunctional targetSusceptibility variantsSusceptibility genesMolecular analysisStrong signalGene-environment studiesPolymorphismARHGAP27PLEKHM1MiRSNPs