2024
Understanding the genetic complexity of puberty timing across the allele frequency spectrum
Kentistou K, Kaisinger L, Stankovic S, Vaudel M, Mendes de Oliveira E, Messina A, Walters R, Liu X, Busch A, Helgason H, Thompson D, Santoni F, Petricek K, Zouaghi Y, Huang-Doran I, Gudbjartsson D, Bratland E, Lin K, Gardner E, Zhao Y, Jia R, Terao C, Riggan M, Bolla M, Yazdanpanah M, Yazdanpanah N, Bradfield J, Broer L, Campbell A, Chasman D, Cousminer D, Franceschini N, Franke L, Girotto G, He C, Järvelin M, Joshi P, Kamatani Y, Karlsson R, Luan J, Lunetta K, Mägi R, Mangino M, Medland S, Meisinger C, Noordam R, Nutile T, Concas M, Polašek O, Porcu E, Ring S, Sala C, Smith A, Tanaka T, van der Most P, Vitart V, Wang C, Willemsen G, Zygmunt M, Ahearn T, Andrulis I, Anton-Culver H, Antoniou A, Auer P, Barnes C, Beckmann M, Berrington de Gonzalez A, Bogdanova N, Bojesen S, Brenner H, Buring J, Canzian F, Chang-Claude J, Couch F, Cox A, Crisponi L, Czene K, Daly M, Demerath E, Dennis J, Devilee P, De Vivo I, Dörk T, Dunning A, Dwek M, Eriksson J, Fasching P, Fernandez-Rhodes L, Ferreli L, Fletcher O, Gago-Dominguez M, García-Closas M, García-Sáenz J, González-Neira A, Grallert H, Guénel P, Haiman C, Hall P, Hamann U, Hakonarson H, Hart R, Hickey M, Hooning M, Hoppe R, Hopper J, Hottenga J, Hu F, Huebner H, Hunter D, Jernström H, John E, Karasik D, Khusnutdinova E, Kristensen V, Lacey J, Lambrechts D, Launer L, Lind P, Lindblom A, Magnusson P, Mannermaa A, McCarthy M, Meitinger T, Menni C, Michailidou K, Millwood I, Milne R, Montgomery G, Nevanlinna H, Nolte I, Nyholt D, Obi N, O’Brien K, Offit K, Oldehinkel A, Ostrowski S, Palotie A, Pedersen O, Peters A, Pianigiani G, Plaseska-Karanfilska D, Pouta A, Pozarickij A, Radice P, Rennert G, Rosendaal F, Ruggiero D, Saloustros E, Sandler D, Schipf S, Schmidt C, Schmidt M, Small K, Spedicati B, Stampfer M, Stone J, Tamimi R, Teras L, Tikkanen E, Turman C, Vachon C, Wang Q, Winqvist R, Wolk A, Zemel B, Zheng W, van Dijk K, Alizadeh B, Bandinelli S, Boerwinkle E, Boomsma D, Ciullo M, Chenevix-Trench G, Cucca F, Esko T, Gieger C, Grant S, Gudnason V, Hayward C, Kolčić I, Kraft P, Lawlor D, Martin N, Nøhr E, Pedersen N, Pennell C, Ridker P, Robino A, Snieder H, Sovio U, Spector T, Stöckl D, Sudlow C, Timpson N, Toniolo D, Uitterlinden A, Ulivi S, Völzke H, Wareham N, Widen E, Wilson J, Pharoah P, Li L, Easton D, Njølstad P, Sulem P, Murabito J, Murray A, Manousaki D, Juul A, Erikstrup C, Stefansson K, Horikoshi M, Chen Z, Farooqi I, Pitteloud N, Johansson S, Day F, Perry J, Ong K. Understanding the genetic complexity of puberty timing across the allele frequency spectrum. Nature Genetics 2024, 56: 1397-1411. PMID: 38951643, PMCID: PMC11250262, DOI: 10.1038/s41588-024-01798-4.Peer-Reviewed Original ResearchConceptsAllele frequency spectrumLoss-of-function variantsDNA damage responsePolygenic riskAssociated with later health outcomesBody size dependenceGenetic analysisG protein-coupled receptorsGenetic complexityTrait varianceReproductive timingRNA sequencingDamage responseNutritional sensorsPrecocious pubertyOvarian reserveTriggering pubertyGenesHigh riskPuberty timingMenopause timingLife diseasePubertal timingWomenPuberty
2022
Polygenic risk modeling for prediction of epithelial ovarian cancer risk
Dareng EO, Tyrer JP, Barnes DR, Jones MR, Yang X, Aben KKH, Adank MA, Agata S, Andrulis IL, Anton-Culver H, Antonenkova NN, Aravantinos G, Arun BK, Augustinsson A, Balmaña J, Bandera EV, Barkardottir RB, Barrowdale D, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bermisheva M, Bernardini MQ, Bjorge L, Black A, Bogdanova NV, Bonanni B, Borg A, Brenton JD, Budzilowska A, Butzow R, Buys SS, Cai H, Caligo MA, Campbell I, Cannioto R, Cassingham H, Chang-Claude J, Chanock SJ, Chen K, Chiew YE, Chung WK, Claes KBM, Colonna S, Cook L, Couch F, Daly M, Dao F, Davies E, de la Hoya M, de Putter R, Dennis J, DePersia A, Devilee P, Diez O, Ding Y, Doherty J, Domchek S, Dörk T, du Bois A, Dürst M, Eccles D, Eliassen H, Engel C, Evans G, Fasching P, Flanagan J, Fortner R, Machackova E, Friedman E, Ganz P, Garber J, Gensini F, Giles G, Glendon G, Godwin A, Goodman M, Greene M, Gronwald J, Hahnen E, Haiman C, Håkansson N, Hamann U, Hansen T, Harris H, Hartman M, Heitz F, Hildebrandt M, Høgdall E, Høgdall C, Hopper J, Huang R, Huff C, Hulick P, Huntsman D, Imyanitov E, Isaacs C, Jakubowska A, James P, Janavicius R, Jensen A, Johannsson O, John E, Jones M, Kang D, Karlan B, Karnezis A, Kelemen L, Khusnutdinova E, Kiemeney L, Kim B, Kjaer S, Komenaka I, Kupryjanczyk J, Kurian A, Kwong A, Lambrechts D, Larson M, Lazaro C, Le N, Leslie G, Lester J, Lesueur F, Levine D, Li L, Li J, Loud J, Lu K, Lubiński J, Mai P, Manoukian S, Marks J, Matsuno R, Matsuo K, May T, McGuffog L, McLaughlin J, McNeish I, Mebirouk N, Menon U, Miller A, Milne R, Minlikeeva A, Modugno F, Montagna M, Moysich K, Munro E, Nathanson K, Neuhausen S, Nevanlinna H, Yie J, Nielsen H, Nielsen F, Nikitina-Zake L, Odunsi K, Offit K, Olah E, Olbrecht S, Olopade O, Olson S, Olsson H, Osorio A, Papi L, Park S, Parsons M, Pathak H, Pedersen I, Peixoto A, Pejovic T, Perez-Segura P, Permuth J, Peshkin B, Peterlongo P, Piskorz A, Prokofyeva D, Radice P, Rantala J, Riggan M, Risch H, Rodriguez-Antona C, Ross E, Rossing M, Runnebaum I, Sandler D, Santamariña M, Soucy P, Schmutzler R, Setiawan V, Shan K, Sieh W, Simard J, Singer C, Sokolenko A, Song H, Southey M, Steed H, Stoppa-Lyonnet D, Sutphen R, Swerdlow A, Tan Y, Teixeira M, Teo S, Terry K, Terry M, Thomassen M, Thompson P, Thomsen L, Thull D, Tischkowitz M, Titus L, Toland A, Torres D, Trabert B, Travis R, Tung N, Tworoger S, Valen E, van Altena A, van der Hout A, Van Nieuwenhuysen E, van Rensburg E, Vega A, Edwards D, Vierkant R, Wang F, Wappenschmidt B, Webb P, Weinberg C, Weitzel J, Wentzensen N, White E, Whittemore A, Winham S, Wolk A, Woo Y, Wu A, Yan L, Yannoukakos D, Zavaglia K, Zheng W, Ziogas A, Zorn K, Kleibl Z, Easton D, Lawrenson K, DeFazio A, Sellers T, Ramus S, Pearce C, Monteiro A, Cunningham J, Goode E, Schildkraut J, Berchuck A, Chenevix-Trench G, Gayther S, Antoniou A, Pharoah P. Polygenic risk modeling for prediction of epithelial ovarian cancer risk. European Journal Of Human Genetics 2022, 30: 349-362. PMID: 35027648, PMCID: PMC8904525, DOI: 10.1038/s41431-021-00987-7.Peer-Reviewed Original Research
2020
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
Fachal L, Aschard H, Beesley J, Barnes DR, Allen J, Kar S, Pooley KA, Dennis J, Michailidou K, Turman C, Soucy P, Lemaçon A, Lush M, Tyrer JP, Ghoussaini M, Moradi Marjaneh M, Jiang X, Agata S, Aittomäki K, Alonso MR, Andrulis IL, Anton-Culver H, Antonenkova NN, Arason A, Arndt V, Aronson KJ, Arun BK, Auber B, Auer PL, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Beeghly-Fadiel A, Benitez J, Bermisheva M, Białkowska K, Blanco AM, Blomqvist C, Blot W, Bogdanova NV, Bojesen SE, Bolla MK, Bonanni B, Borg A, Bosse K, Brauch H, Brenner H, Briceno I, Brock IW, Brooks-Wilson A, Brüning T, Burwinkel B, Buys SS, Cai Q, Caldés T, Caligo MA, Camp NJ, Campbell I, Canzian F, Carroll JS, Carter BD, Castelao JE, Chiquette J, Christiansen H, Chung WK, Claes KBM, Clarke CL, Collée J, Cornelissen S, Couch F, Cox A, Cross S, Cybulski C, Czene K, Daly M, de la Hoya M, Devilee P, Diez O, Ding Y, Dite G, Domchek S, Dörk T, dos-Santos-Silva I, Droit A, Dubois S, Dumont M, Duran M, Durcan L, Dwek M, Eccles D, Engel C, Eriksson M, Evans D, Fasching P, Fletcher O, Floris G, Flyger H, Foretova L, Foulkes W, Friedman E, Fritschi L, Frost D, Gabrielson M, Gago-Dominguez M, Gambino G, Ganz P, Gapstur S, Garber J, García-Sáenz J, Gaudet M, Georgoulias V, Giles G, Glendon G, Godwin A, Goldberg M, Goldgar D, González-Neira A, Tibiletti M, Greene M, Grip M, Gronwald J, Grundy A, Guénel P, Hahnen E, Haiman C, Håkansson N, Hall P, Hamann U, Harrington P, Hartikainen J, Hartman M, He W, Healey C, Heemskerk-Gerritsen B, Heyworth J, Hillemanns P, Hogervorst F, Hollestelle A, Hooning M, Hopper J, Howell A, Huang G, Hulick P, Imyanitov E, Isaacs C, Iwasaki M, Jager A, Jakimovska M, Jakubowska A, James P, Janavicius R, Jankowitz R, John E, Johnson N, Jones M, Jukkola-Vuorinen A, Jung A, Kaaks R, Kang D, Kapoor P, Karlan B, Keeman R, Kerin M, Khusnutdinova E, Kiiski J, Kirk J, Kitahara C, Ko Y, Konstantopoulou I, Kosma V, Koutros S, Kubelka-Sabit K, Kwong A, Kyriacou K, Laitman Y, Lambrechts D, Lee E, Leslie G, Lester J, Lesueur F, Lindblom A, Lo W, Long J, Lophatananon A, Loud J, Lubiński J, MacInnis R, Maishman T, Makalic E, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez M, Matsuo K, Maurer T, Mavroudis D, Mayes R, McGuffog L, McLean C, Mebirouk N, Meindl A, Miller A, Miller N, Montagna M, Moreno F, Muir K, Mulligan A, Muñoz-Garzon V, Muranen T, Narod S, Nassir R, Nathanson K, Neuhausen S, Nevanlinna H, Neven P, Nielsen F, Nikitina-Zake L, Norman A, Offit K, Olah E, Olopade O, Olsson H, Orr N, Osorio A, Pankratz V, Papp J, Park S, Park-Simon T, Parsons M, Paul J, Pedersen I, Peissel B, Peshkin B, Peterlongo P, Peto J, Plaseska-Karanfilska D, Prajzendanc K, Prentice R, Presneau N, Prokofyeva D, Pujana M, Pylkäs K, Radice P, Ramus S, Rantala J, Rau-Murthy R, Rennert G, Risch H, Robson M, Romero A, Rossing M, Saloustros E, Sánchez-Herrero E, Sandler D, Santamariña M, Saunders C, Sawyer E, Scheuner M, Schmidt D, Schmutzler R, Schneeweiss A, Schoemaker M, Schöttker B, Schürmann P, Scott C, Scott R, Senter L, Seynaeve C, Shah M, Sharma P, Shen C, Shu X, Singer C, Slavin T, Smichkoska S, Southey M, Spinelli J, Spurdle A, Stone J, Stoppa-Lyonnet D, Sutter C, Swerdlow A, Tamimi R, Tan Y, Tapper W, Taylor J, Teixeira M, Tengström M, Teo S, Terry M, Teulé A, Thomassen M, Thull D, Tischkowitz M, Toland A, Tollenaar R, Tomlinson I, Torres D, Torres-Mejía G, Troester M, Truong T, Tung N, Tzardi M, Ulmer H, Vachon C, van Asperen C, van der Kolk L, van Rensburg E, Vega A, Viel A, Vijai J, Vogel M, Wang Q, Wappenschmidt B, Weinberg C, Weitzel J, Wendt C, Wildiers H, Winqvist R, Wolk A, Wu A, Yannoukakos D, Zhang Y, Zheng W, Hunter D, Pharoah P, Chang-Claude J, García-Closas M, Schmidt M, Milne R, Kristensen V, French J, Edwards S, Antoniou A, Chenevix-Trench G, Simard J, Easton D, Kraft P, Dunning A. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes. Nature Genetics 2020, 52: 56-73. PMID: 31911677, PMCID: PMC6974400, DOI: 10.1038/s41588-019-0537-1.Peer-Reviewed Original ResearchConceptsCausal variantsTranscription factorsTarget genesActive gene regulatory regionsHigh-confidence target genesGenomic feature annotationsGenome-wide association studiesBreast cancer risk variantsGene regulatory regionsCredible causal variantsGene ontology pathwaysChromatin interactionsFunctional annotationGenomic regionsOntology pathwaysRegulatory regionsGenomic featuresCancer driversGene expressionAssociation studiesAssociation analysisGenesLinkage disequilibriumRisk variantsHigh posterior probability
2018
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes
Mavaddat N, Michailidou K, Dennis J, Lush M, Fachal L, Lee A, Tyrer J, Chen T, Wang Q, Bolla M, Yang X, Adank M, Ahearn T, Aittomäki K, Allen J, Andrulis I, Anton-Culver H, Antonenkova N, Arndt V, Aronson K, Auer P, Auvinen P, Barrdahl M, Freeman L, Beckmann M, Behrens S, Benitez J, Bermisheva M, Bernstein L, Blomqvist C, Bogdanova N, Bojesen S, Bonanni B, Børresen-Dale A, Brauch H, Bremer M, Brenner H, Brentnall A, Brock I, Brooks-Wilson A, Brucker S, Brüning T, Burwinkel B, Campa D, Carter B, Castelao J, Chanock S, Chlebowski R, Christiansen H, Clarke C, Collée J, Cordina-Duverger E, Cornelissen S, Couch F, Cox A, Cross S, Czene K, Daly M, Devilee P, Dörk T, dos-Santos-Silva I, Dumont M, Durcan L, Dwek M, Eccles D, Ekici A, Eliassen A, Ellberg C, Engel C, Eriksson M, Evans D, Fasching P, Figueroa J, Fletcher O, Flyger H, Försti A, Fritschi L, Gabrielson M, Gago-Dominguez M, Gapstur S, García-Sáenz J, Gaudet M, Georgoulias V, Giles G, Gilyazova I, Glendon G, Goldberg M, Goldgar D, González-Neira A, Alnæs G, Grip M, Gronwald J, Grundy A, Guénel P, Haeberle L, Hahnen E, Haiman C, Håkansson N, Hamann U, Hankinson S, Harkness E, Hart S, He W, Hein A, Heyworth J, Hillemanns P, Hollestelle A, Hooning M, Hoover R, Hopper J, Howell A, Huang G, Humphreys K, Hunter D, Jakimovska M, Jakubowska A, Janni W, John E, Johnson N, Jones M, Jukkola-Vuorinen A, Jung A, Kaaks R, Kaczmarek K, Kataja V, Keeman R, Kerin M, Khusnutdinova E, Kiiski J, Knight J, Ko Y, Kosma V, Koutros S, Kristensen V, Krüger U, Kühl T, Lambrechts D, Le Marchand L, Lee E, Lejbkowicz F, Lilyquist J, Lindblom A, Lindström S, Lissowska J, Lo W, Loibl S, Long J, Lubiński J, Lux M, MacInnis R, Maishman T, Makalic E, Kostovska I, Mannermaa A, Manoukian S, Margolin S, Martens J, Martinez M, Mavroudis D, McLean C, Meindl A, Menon U, Middha P, Miller N, Moreno F, Mulligan A, Mulot C, Muñoz-Garzon V, Neuhausen S, Nevanlinna H, Neven P, Newman W, Nielsen S, Nordestgaard B, Norman A, Offit K, Olson J, Olsson H, Orr N, Pankratz V, Park-Simon T, Perez J, Pérez-Barrios C, Peterlongo P, Peto J, Pinchev M, Plaseska-Karanfilska D, Polley E, Prentice R, Presneau N, Prokofyeva D, Purrington K, Pylkäs K, Rack B, Radice P, Rau-Murthy R, Rennert G, Rennert H, Rhenius V, Robson M, Romero A, Ruddy K, Ruebner M, Saloustros E, Sandler D, Sawyer E, Schmidt D, Schmutzler R, Schneeweiss A, Schoemaker M, Schumacher F, Schürmann P, Schwentner L, Scott C, Scott R, Seynaeve C, Shah M, Sherman M, Shrubsole M, Shu X, Slager S, Smeets A, Sohn C, Soucy P, Southey M, Spinelli J, Stegmaier C, Stone J, Swerdlow A, Tamimi R, Tapper W, Taylor J, Terry M, Thöne K, Tollenaar R, Tomlinson I, Truong T, Tzardi M, Ulmer H, Untch M, Vachon C, van Veen E, Vijai J, Weinberg C, Wendt C, Whittemore A, Wildiers H, Willett W, Winqvist R, Wolk A, Yang X, Yannoukakos D, Zhang Y, Zheng W, Ziogas A, Investigators A, Investigators K, Collaborators N, Dunning A, Thompson D, Chenevix-Trench G, Chang-Claude J, Schmidt M, Hall P, Milne R, Pharoah P, Antoniou A, Chatterjee N, Kraft P, García-Closas M, Simard J, Easton D. Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes. American Journal Of Human Genetics 2018, 104: 21-34. PMID: 30554720, PMCID: PMC6323553, DOI: 10.1016/j.ajhg.2018.11.002.Peer-Reviewed Original ResearchConceptsPolygenic risk scoresSingle-nucleotide polymorphismsBreast cancer prevention programsPredictor of breast cancer riskCase subjectsRisk of breast cancerOverall breast cancerRisk scoreBreast cancerBreast cancer riskControl subjects of European ancestryCancer prevention programsSubjects of European ancestryArea under receiver-operating curveProspective studyGenome-wide association datasetER-negative diseaseUK BiobankCancer riskStratification of womenGenome-wide arrayMiddle quintileLifetime riskImprove screeningLasso penalized regression
2016
Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
Vigorito E, Kuchenbaecker K, Beesley J, Adlard J, Agnarsson B, Andrulis I, Arun B, Barjhoux L, Belotti M, Benitez J, Berger A, Bojesen A, Bonanni B, Brewer C, Caldes T, Caligo M, Campbell I, Chan S, Claes K, Cohn D, Cook J, Daly M, Damiola F, Davidson R, de Pauw A, Delnatte C, Diez O, Domchek S, Dumont M, Durda K, Dworniczak B, Easton D, Eccles D, Edwinsdotter Ardnor C, Eeles R, Ejlertsen B, Ellis S, Evans D, Feliubadalo L, Fostira F, Foulkes W, Friedman E, Frost D, Gaddam P, Ganz P, Garber J, Garcia-Barberan V, Gauthier-Villars M, Gehrig A, Gerdes A, Giraud S, Godwin A, Goldgar D, Hake C, Hansen T, Healey S, Hodgson S, Hogervorst F, Houdayer C, Hulick P, Imyanitov E, Isaacs C, Izatt L, Izquierdo A, Jacobs L, Jakubowska A, Janavicius R, Jaworska-Bieniek K, Jensen U, John E, Vijai J, Karlan B, Kast K, Investigators K, Khan S, Kwong A, Laitman Y, Lester J, Lesueur F, Liljegren A, Lubinski J, Mai P, Manoukian S, Mazoyer S, Meindl A, Mensenkamp A, Montagna M, Nathanson K, Neuhausen S, Nevanlinna H, Niederacher D, Olah E, Olopade O, Ong K, Osorio A, Park S, Paulsson-Karlsson Y, Pedersen I, Peissel B, Peterlongo P, Pfeiler G, Phelan C, Piedmonte M, Poppe B, Pujana M, Radice P, Rennert G, Rodriguez G, Rookus M, Ross E, Schmutzler R, Simard J, Singer C, Slavin T, Soucy P, Southey M, Steinemann D, Stoppa-Lyonnet D, Sukiennicki G, Sutter C, Szabo C, Tea M, Teixeira M, Teo S, Terry M, Thomassen M, Tibiletti M, Tihomirova L, Tognazzo S, van Rensburg E, Varesco L, Varon-Mateeva R, Vratimos A, Weitzel J, McGuffog L, Kirk J, Toland A, Hamann U, Lindor N, Ramus S, Greene M, Couch F, Offit K, Pharoah P, Chenevix-Trench G, Antoniou A. Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. PLOS ONE 2016, 11: e0158801. PMID: 27463617, PMCID: PMC4963094, DOI: 10.1371/journal.pone.0158801.Peer-Reviewed Original ResearchMeSH KeywordsChromosome MappingChromosomes, Human, Pair 9FemaleGenes, BRCA1Genes, BRCA2Genetic Carrier ScreeningGenetic Predisposition to DiseaseHumansOvarian NeoplasmsPolymorphism, Single NucleotideConceptsOvarian cancer riskBRCA2 mutation carriersModify ovarian cancer riskBRCA1 mutation carriersCancer riskOvarian cancer associationMutation carriersCausal variantsFine-scale mappingGeneral populationBRCA-2 mutation carriersCancer associationCancer risk modificationGenome wide association studiesPotential causal variantsTranscription start siteCorrelated SNPsGenotype imputationRisk modificationStart siteAssociation studiesGenotype dataBRCA1BRCA2BNC2Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
Couch F, Kuchenbaecker K, Michailidou K, Mendoza-Fandino G, Nord S, Lilyquist J, Olswold C, Hallberg E, Agata S, Ahsan H, Aittomäki K, Ambrosone C, Andrulis I, Anton-Culver H, Arndt V, Arun B, Arver B, Barile M, Barkardottir R, Barrowdale D, Beckmann L, Beckmann M, Benitez J, Blank S, Blomqvist C, Bogdanova N, Bojesen S, Bolla M, Bonanni B, Brauch H, Brenner H, Burwinkel B, Buys S, Caldes T, Caligo M, Canzian F, Carpenter J, Chang-Claude J, Chanock S, Chung W, Claes K, Cox A, Cross S, Cunningham J, Czene K, Daly M, Damiola F, Darabi H, de la Hoya M, Devilee P, Diez O, Ding Y, Dolcetti R, Domchek S, Dorfling C, dos-Santos-Silva I, Dumont M, Dunning A, Eccles D, Ehrencrona H, Ekici A, Eliassen H, Ellis S, Fasching P, Figueroa J, Flesch-Janys D, Försti A, Fostira F, Foulkes W, Friebel T, Friedman E, Frost D, Gabrielson M, Gammon M, Ganz P, Gapstur S, Garber J, Gaudet M, Gayther S, Gerdes A, Ghoussaini M, Giles G, Glendon G, Godwin A, Goldberg M, Goldgar D, González-Neira A, Greene M, Gronwald J, Guénel P, Gunter M, Haeberle L, Haiman C, Hamann U, Hansen T, Hart S, Healey S, Heikkinen T, Henderson B, Herzog J, Hogervorst F, Hollestelle A, Hooning M, Hoover R, Hopper J, Humphreys K, Hunter D, Huzarski T, Imyanitov E, Isaacs C, Jakubowska A, James P, Janavicius R, Jensen U, John E, Jones M, Kabisch M, Kar S, Karlan B, Khan S, Khaw K, Kibriya M, Knight J, Ko Y, Konstantopoulou I, Kosma V, Kristensen V, Kwong A, Laitman Y, Lambrechts D, Lazaro C, Lee E, Le Marchand L, Lester J, Lindblom A, Lindor N, Lindstrom S, Liu J, Long J, Lubinski J, Mai P, Makalic E, Malone K, Mannermaa A, Manoukian S, Margolin S, Marme F, Martens J, McGuffog L, Meindl A, Miller A, Milne R, Miron P, Montagna M, Mazoyer S, Mulligan A, Muranen T, Nathanson K, Neuhausen S, Nevanlinna H, Nordestgaard B, Nussbaum R, Offit K, Olah E, Olopade O, Olson J, Osorio A, Park S, Peeters P, Peissel B, Peterlongo P, Peto J, Phelan C, Pilarski R, Poppe B, Pylkäs K, Radice P, Rahman N, Rantala J, Rappaport C, Rennert G, Richardson A, Robson M, Romieu I, Rudolph A, Rutgers E, Sanchez M, Santella R, Sawyer E, Schmidt D, Schmidt M, Schmutzler R, Schumacher F, Scott R, Senter L, Sharma P, Simard J, Singer C, Sinilnikova O, Soucy P, Southey M, Steinemann D, Stenmark-Askmalm M, Stoppa-Lyonnet D, Swerdlow A, Szabo C, Tamimi R, Tapper W, Teixeira M, Teo S, Terry M, Thomassen M, Thompson D, Tihomirova L, Toland A, Tollenaar R, Tomlinson I, Truong T, Tsimiklis H, Teulé A, Tumino R, Tung N, Turnbull C, Ursin G, van Deurzen C, van Rensburg E, Varon-Mateeva R, Wang Z, Wang-Gohrke S, Weiderpass E, Weitzel J, Whittemore A, Wildiers H, Winqvist R, Yang X, Yannoukakos D, Yao S, Zamora M, Zheng W, Hall P, Kraft P, Vachon C, Slager S, Chenevix-Trench G, Pharoah P, Monteiro A, García-Closas M, Easton D, Antoniou A. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. Nature Communications 2016, 7: 11375. PMID: 27117709, PMCID: PMC4853421, DOI: 10.1038/ncomms11375.Peer-Reviewed Original ResearchConceptsGenome-wide significant associationGenome-wide association studiesBreast cancer risk lociSusceptibility lociCancer risk lociNovel susceptibility lociEQTL studiesICOGS arrayRisk lociAssociation studiesUnidentified locusLociPPIL3WDR43Common variantsNegative breast cancerFamilial relative riskCancer etiologyER-negative casesTRMT61BEstrogen receptor-negative breast cancerER-negative breast cancerKLF5BRCA1Breast cancer
2015
BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers
Meeks HD, Song H, Michailidou K, Bolla MK, Dennis J, Wang Q, Barrowdale D, Frost D, EMBRACE, McGuffog L, Ellis S, Feng B, Buys S, Hopper J, Southey M, Tesoriero A, Investigators K, James P, Bruinsma F, Campbell I, Group A, Broeks A, Schmidt M, Hogervorst F, HEBON, Beckman M, Fasching P, Fletcher O, Johnson N, Sawyer E, Riboli E, Banerjee S, Menon U, Tomlinson I, Burwinkel B, Hamann U, Marme F, Rudolph A, Janavicius R, Tihomirova L, Tung N, Garber J, Cramer D, Terry K, Poole E, Tworoger S, Dorfling C, van Rensburg E, Godwin A, Guénel P, Truong T, Collaborators G, Stoppa-Lyonnet D, Damiola F, Mazoyer S, Sinilnikova O, Isaacs C, Maugard C, Bojesen S, Flyger H, Gerdes A, Hansen T, Jensen A, Kjaer S, Hogdall C, Hogdall E, Pedersen I, Thomassen M, Benitez J, González-Neira A, Osorio A, de la Hoya M, Segura P, Diez O, Lazaro C, Brunet J, Anton-Culver H, Eunjung L, John E, Neuhausen S, Ding Y, Castillo D, Weitzel J, Ganz P, Nussbaum R, Chan S, Karlan B, Lester J, Wu A, Gayther S, Ramus S, Sieh W, Whittermore A, Monteiro A, Phelan C, Terry M, Piedmonte M, Offit K, Robson M, Levine D, Moysich K, Cannioto R, Olson S, Daly M, Nathanson K, Domchek S, Lu K, Liang D, Hildebrant M, Ness R, Modugno F, Pearce L, Goodman M, Thompson P, Brenner H, Butterbach K, Meindl A, Hahnen E, Wappenschmidt B, Brauch H, Brüning T, Blomqvist C, Khan S, Nevanlinna H, Pelttari L, Aittomäki K, Butzow R, Bogdanova N, Dörk T, Lindblom A, Margolin S, Rantala J, Kosma V, Mannermaa A, Lambrechts D, Neven P, Claes K, Van Maerken T, Chang-Claude J, Flesch-Janys D, Heitz F, Varon-Mateeva R, Peterlongo P, Radice P, Viel A, Barile M, Peissel B, Manoukian S, Montagna M, Oliani C, Peixoto A, Teixeira M, Collavoli A, Hallberg E, Olson J, Goode E, Hart S, Shimelis H, Cunningham J, Giles G, Milne R, Healey S, Tucker K, Haiman C, Henderson B, Goldberg M, Tischkowitz M, Simard J, Soucy P, Eccles D, Le N, Borresen-Dale A, Kristensen V, Salvesen H, Bjorge L, Bandera E, Risch H, Zheng W, Beeghly-Fadiel A, Cai H, Pylkäs K, Tollenaar R, van der Ouweland A, Andrulis I, Knight J, OCGN, Narod S, Devilee P, Winqvist R, Figueroa J, Greene M, L. P, Loud J, García-Closas M, Schoemaker M, Czene K, Darabi H, McNeish I, Siddiquil N, Glasspool R, Kwong A, Park S, Teo S, Yoon S, Matsuo K, Hosono S, Woo Y, Gao Y, Foretova L, Singer C, Rappaport-Feurhauser C, Friedman E, Laitman Y, Rennert G, Imyanitov E, Hulick P, Olopade O, Senter L, Olah E, Doherty J, Schildkraut J, Koppert L, Kiemeney L, Massuger L, Cook L, Pejovic T, Li J, Borg A, Öfverholm A, Rossing M, Wentzensen N, Henriksson K, Cox A, Cross S, Pasini B, Shah M, Kabisch M, Torres D, Jakubowska A, Lubinski J, Gronwald J, Agnarsson B, Kupryjanczyk J, Moes-Sosnowska J, Fostira F, Konstantopoulou I, Slager S, Jones M, in the genome P, Antoniou A, Berchuck A, Swerdlow A, Chenevix-Trench G, Dunning A, Pharoah P, Hall P, Easton D, Couch F, Spurdle A, Goldgar D. BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers. Journal Of The National Cancer Institute 2015, 108: djv315. PMID: 26586665, PMCID: PMC4907358, DOI: 10.1093/jnci/djv315.Peer-Reviewed Original ResearchConceptsOvarian cancerBreast cancerVariant carriersCancer riskEstrogen receptor-negative breast cancerReceptor-negative breast cancerCancer case patientsInvasive ovarian cancerHormone-related cancersProstate cancer riskConfidence intervalsOvarian cancer riskSignificant inverse associationCox proportional hazardsSerous ovarian cancerRisk of breastBRCA1 mutation carriersPathogenic BRCA2 variantsControl patientsCase patientsInverse associationOdds ratioProstate cancerMutation carriersProportional hazards
2013
Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer
Purrington K, Slager S, Eccles D, Yannoukakos D, Fasching P, Miron P, Carpenter J, Chang-Claude J, Martin N, Montgomery G, Kristensen V, Anton-Culver H, Goodfellow P, Tapper W, Rafiq S, Gerty S, Durcan L, Konstantopoulou I, Fostira F, Vratimos A, Apostolou P, Konstanta I, Kotoula V, Lakis S, Dimopoulos M, Skarlos D, Pectasides D, Fountzilas G, Beckmann M, Hein A, Ruebner M, Ekici A, Hartmann A, Schulz-Wendtland R, Renner S, Janni W, Rack B, Scholz C, Neugebauer J, Andergassen U, Lux M, Haeberle L, Clarke C, Pathmanathan N, Rudolph A, Flesch-Janys D, Nickels S, Olson J, Ingle J, Olswold C, Slettedahl S, Eckel-Passow J, Anderson S, Visscher D, Cafourek V, Sicotte H, Prodduturi N, Weiderpass E, Bernstein L, Ziogas A, Ivanovich J, Giles G, Baglietto L, Southey M, Kosma V, Fischer H, Network T, Reed M, Cross S, Deming-Halverson S, Shrubsole M, Cai Q, Shu X, Daly M, Weaver J, Ross E, Klemp J, Sharma P, Torres D, Rüdiger T, Wölfing H, Ulmer H, Försti A, Khoury T, Kumar S, Pilarski R, Shapiro C, Greco D, Heikkilä P, Aittomäki K, Blomqvist C, Irwanto A, Liu J, Pankratz V, Wang X, Severi G, Mannermaa A, Easton D, Hall P, Brauch H, Cox A, Zheng W, Godwin A, Hamann U, Ambrosone C, Toland A, Nevanlinna H, Vachon C, Couch F. Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer. Carcinogenesis 2013, 35: 1012-1019. PMID: 24325915, PMCID: PMC4004200, DOI: 10.1093/carcin/bgt404.Peer-Reviewed Original ResearchConceptsTN breast cancerTriple-negative breast cancerBreast cancerBreast cancer susceptibility lociRisk factorsPolygenic risk scoresSingle nucleotide polymorphismsGenome-wide association studiesBreast cancer riskCancer susceptibility lociBreast cancer risk predictionGenetic risk factorsCancer risk predictionAbsolute riskAggressive subtypeAssociation studiesTwo-stage genome-wide association studyCancer riskRisk scoreSusceptibility lociGenome-wide significant associationSignificant associationCancerBreast cancer risk variantsPTHLH locus
2011
Common Genetic Variation at BARD1 Is Not Associated with Breast Cancer Risk in BRCA1 or BRCA2 Mutation Carriers
Spurdle A, Marquart L, McGuffog L, Healey S, Sinilnikova O, Wan F, Chen X, Beesley J, Singer C, Dressler A, Gschwantler-Kaulich D, Blum J, Tung N, Weitzel J, Lynch H, Garber J, Easton D, Peock S, Cook M, Oliver C, Frost D, Conroy D, Evans D, Lalloo F, Eeles R, Izatt L, Davidson R, Chu C, Eccles D, Selkirk C, Daly M, Isaacs C, Stoppa-Lyonnet D, Sinilnikova O, Buecher B, Belotti M, Mazoyer S, Barjhoux L, Verny-Pierre C, Lasset C, Dreyfus H, Pujol P, Collonge-Rame M, Rookus M, Verhoef S, Kriege M, Hoogerbrugge N, Ausems M, van Os T, Wijnen J, Devilee P, Meijers-Heijboer H, Blok M, Heikkinen T, Nevanlinna H, Jakubowska A, Lubiński J, Huzarski T, Byrski T, Durocher F, Couch F, Lindor N, Wang X, Thomassen M, Domchek S, Nathanson K, Caligo M, Jernström H, Liljegren A, Ehrencrona H, Karlsson P, Ganz P, Olopade O, Tomlinson G, Neuhausen S, Antoniou A, Chenevix-Trench G, Rebbeck T. Common Genetic Variation at BARD1 Is Not Associated with Breast Cancer Risk in BRCA1 or BRCA2 Mutation Carriers. Cancer Epidemiology Biomarkers & Prevention 2011, 20: 1032-1038. PMID: 21393566, PMCID: PMC3089675, DOI: 10.1158/1055-9965.epi-10-0909.Peer-Reviewed Original ResearchConceptsBreast cancer riskAssociated with breast cancer riskBRCA2 mutation carriersBRCA1/2 mutation carriersCancer riskMutation carriersAssociated with risk of breast cancerElevated breast cancer riskBreast cancer risk assessmentRisk of breast cancerBARD1 Cys557Ser variantCancer prevention strategiesPooled effect estimatesCancer risk assessmentAssociated with riskModifiers of riskBRCA2 carriersBRCA1 carriersInherited BRCA1Risk modificationAnalysis of haplotypesPrevention strategiesEffect estimatesKnowledge of factorsBRCA1/2
2009
Modification of Ovarian Cancer Risk by BRCA1/2-Interacting Genes in a Multicenter Cohort of BRCA1/2 Mutation Carriers
Rebbeck T, Mitra N, Domchek S, Wan F, Chuai S, Friebel T, Panossian S, Spurdle A, Chenevix-Trench G, Singer C, Pfeiler G, Neuhausen S, Lynch H, Garber J, Weitzel J, Isaacs C, Couch F, Narod S, Rubinstein W, Tomlinson G, Ganz P, Olopade O, Tung N, Blum J, Greenberg R, Nathanson K, Daly M. Modification of Ovarian Cancer Risk by BRCA1/2-Interacting Genes in a Multicenter Cohort of BRCA1/2 Mutation Carriers. Cancer Research 2009, 69: 5801-5810. PMID: 19584272, PMCID: PMC2751603, DOI: 10.1158/0008-5472.can-09-0625.Peer-Reviewed Original ResearchMeSH KeywordsAcid Anhydride HydrolasesAdultAgedAged, 80 and overAtaxia Telangiectasia Mutated ProteinsBRCA1 ProteinBRCA2 ProteinCarrier ProteinsCell Cycle ProteinsDNA Repair EnzymesDNA-Binding ProteinsEndodeoxyribonucleasesFanconi Anemia Complementation Group ProteinsFemaleGene FrequencyGenotypeHaplotypesHeterozygoteHumansMiddle AgedMRE11 Homologue ProteinMutationNuclear ProteinsOvarian NeoplasmsPolymorphism, Single NucleotideProtein Serine-Threonine KinasesRad51 RecombinaseRisk FactorsRNA HelicasesTumor Suppressor ProteinsUbiquitin-Protein LigasesConceptsAssociated with ovarian cancer riskOvarian cancer riskBRCA1/2 mutation carriersCancer riskMutation carriersElevated ovarian cancer riskOvarian cancer risk assessmentBRCA1/2 mutationsInherited BRCA1/2 mutationsBRCA2 mutation carriersCancer risk assessmentStatistically significant associationBRCA2 carriersBRCA1 carriersEvaluated haplotypesKnowledge of factorsHaplotype associationSignificant associationOvarian cancerRare haplotypesMulticenter cohortBRCA2BRIP1BRCA1/2Haplotypes
2007
AURKA F31I Polymorphism and Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers: A Consortium of Investigators of Modifiers of BRCA1/2 Study
Couch F, Sinilnikova O, Vierkant R, Pankratz V, Fredericksen Z, Stoppa-Lyonnet D, Coupier I, Hughes D, Hardouin A, Berthet P, Peock S, Cook M, Baynes C, Hodgson S, Morrison P, Porteous M, Jakubowska A, Lubinski J, Gronwald J, Spurdle A, kConFab, Schmutzler R, Versmold B, Engel C, Meindl A, Sutter C, Horst J, Schaefer D, Offit K, Kirchhoff T, Andrulis I, Ilyushik E, Glendon G, Devilee P, Vreeswijk M, Vasen H, Borg A, Backenhorn K, Struewing J, Greene M, Neuhausen S, Rebbeck T, Nathanson K, Domchek S, Wagner T, Garber J, Szabo C, Zikan M, Foretova L, Olson J, Sellers T, Lindor N, Nevanlinna H, Tommiska J, Aittomaki K, Hamann U, Rashid M, Torres D, Simard J, Durocher F, Guenard F, Lynch H, Isaacs C, Weitzel J, Olopade O, Narod S, Daly M, Godwin A, Tomlinson G, Easton D, Chenevix-Trench G, Antoniou A, behalf of the Consortium of Investigators of Modifiers of BRCA1/2 O. AURKA F31I Polymorphism and Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers: A Consortium of Investigators of Modifiers of BRCA1/2 Study. Cancer Epidemiology Biomarkers & Prevention 2007, 16: 1416-1421. PMID: 17627006, PMCID: PMC2775799, DOI: 10.1158/1055-9965.epi-07-0129.Peer-Reviewed Original ResearchConceptsBRCA2 mutation carriersBreast cancer riskAssociated with breast cancer riskConsortium of Investigators of Modifiers of BRCA1/2BRCA2 carriersF31I polymorphismMutation carriersCancer riskModify risk of breast cancerRisk of breast cancerBreast cancer risk estimationModifiers of cancer riskAmplification of AURKABilateral prophylactic oophorectomyInactivation of BRCA1Sporadic breast tumorsPredisposition to cancerBRCA2 mutationsProphylactic oophorectomyCancer risk estimatesMenopausal statusBreast tumorsBreast cancerBRCA2Abnormal chromosome segregation
2005
Genetic linkage of prostate cancer risk to the chromosome 3 region bearing FHIT.
Larson G, Ding Y, Cheng L, Lundberg C, Gagalang V, Rivas G, Geller L, Weitzel J, MacDonald D, Archambeau J, Slater J, Neuberg D, Daly M, Angel I, Benson A, Smith K, Kirkwood J, O'Dwyer P, Raskay B, Sutphen R, Drew R, Stewart J, Werndli J, Johnson D, Ruckdeschel J, Elston R, Krontiris T. Genetic linkage of prostate cancer risk to the chromosome 3 region bearing FHIT. Cancer Research 2005, 65: 805-14. PMID: 15705877, DOI: 10.1158/0008-5472.805.65.3.Peer-Reviewed Original ResearchMeSH KeywordsAcid Anhydride HydrolasesAdenocarcinomaAdultAgedAged, 80 and overCase-Control StudiesChromosome MappingChromosomes, Human, Pair 3Genetic LinkageGenetic Predisposition to DiseaseHaplotypesHumansMaleMicrosatellite RepeatsMiddle AgedNeoplasm ProteinsPolymorphism, Single NucleotideProstatic NeoplasmsConceptsProstate cancer riskLOD scoreSingle nucleotide polymorphismsCancer riskLinkage analysisAllele-sharing statisticsMultipoint linkage analysisIntron 5Cases of European descentAdjacent candidate genesChromosome 3 regionRecessive mode of inheritanceCase statusMode of inheritanceAssociation TestCandidate genesEuropean descentGenetic linkageGermline variationChromosome 3pNucleotide polymorphismsFHITAffected brothersRecessive modeChromosome