Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

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Fachal , L , Aschard , H , Beesley , J , Barnes , D R , Allen , J , Kar , S , Pooley , K A , Dennis , J , Michailidou , K , Turman , C , Soucy , P , Lemaçon , A , Lush , M , Tyrer , J P , Ghoussaini , M , Marjaneh , M M , Jiang , X , Agata , S , Aittomäki , K , Alonso , M R , Andrulis , I L , Anton-Culver , H , Antonenkova , N N , Arason , A , Arndt , V , Aronson , K J , Arun , B K , Auber , B , Auer , P L , Azzollini , J , Balmaña , J , Barkardottir , R B , Barrowdale , D , Beeghly-Fadiel , A , Benitez , J , Bermisheva , M , Białkowska , K , Blanco , A M , Blomqvist , C , Blot , W , Bogdanova , N V , Bojesen , S E , Bolla , M K , Bonanni , B , Borg , A , Bosse , K , Brauch , H , Brenner , H , Briceno , I , Brock , I W , Brooks-Wilson , A , Brüning , T , Burwinkel , B , Buys , S S , Cai , Q , Caldés , T , Caligo , M A , Camp , N J , Campbell , I , Canzian , F , Carroll , J S , Carter , B D , Castelao , J E , Chiquette , J , Christiansen , H , Chung , W K , Claes , K B M , Clarke , C L , Mari , V , Berthet , P , Castera , L , Vaur , D , Lallaoui , H , Bignon , Y-J , Uhrhammer , N , Bonadona , V , Lasset , C , Révillion , F , Vennin , P , Muller , D , Gomes , D M , Ingster , O , Coupier , I , Pujol , P , Collonge-Rame , M-A , Mortemousque , I , Bera , O , Rose , M , Baurand , A , Bertolone , G , Faivre , L , Dreyfus , H , Leroux , D , Venat-Bouvet , L , Bézieau , S , Delnatte , C , Chiesa , J , Gilbert-Dussardier , B , Gesta , P , Prieur , F P , Bronner , M , Sokolowska , J , Coulet , F , Boutry-Kryza , N , Calender , A , Giraud , S , Leone , M , Fert-Ferrer , S , Stoppa-Lyonnet , D , Jiao , Y , Lesueur , F L , Mebirouk , N , Barouk-Simonet , E , Bubien , V , Longy , M , Sevenet , N , Gladieff , L , Toulas , C , Reimineras , A , Sobol , H , Paillerets , BB-D , Cabaret , O , Caron , O , Guillaud-Bataille , M , Rouleau , E , Belotti , M , Buecher , B , Caputo , S , Colas , C , Pauw , A D , Fourme , E , Gauthier-Villars , M , Golmard , L , Moncoutier , V , Saule , C , Donaldson , A , Murray , A , Brady , A , Brewer , C , Pottinger , C , Miller , C , Gallagher , D , Gregory , H , Cook , J , Eason , J , Adlard , J , Barwell , J , Ong , K-R , Snape , K , Walker , L , Izatt , L , Side , L , Tischkowitz , M , Rogers , M T , Porteous , M E , Ahmed , M , Morrison , P J , Brennan , P , Eeles , R , Davidson , R , Collée , M , Cornelissen , S , Couch , F J , Cox , A , Cross , S S , Cybulski , C , Czene , K , Daly , M B , de la Hoya , M , Devilee , P , Diez , O , Ding , Y C , Dite , G S , Domchek , S M , Dörk , T , dos-Santos-Silva , I , Droit , A , Dubois , S , Dumont , M , Duran , M , Durcan , L , Dwek , M , Eccles , D M , Engel , C , Eriksson , M , Evans , D G , Fasching , P A , Fletcher , O , Floris , G , Flyger , H , Foretova , L , Foulkes , W D , Friedman , E , Fritschi , L , Frost , D , Gabrielson , M , Gago-Dominguez , M , Gambino , G , Ganz , P A , Gapstur , S M , Garber , J , García-Sáenz , J A , Gaudet , M M , Georgoulias , V , Giles , G , Glendon , G , Godwin , A K , Goldberg , M S , Goldgar , D E , González-Neira , A , Tibiletti , M G , Greene , M H , Grip , M , Gronwald , J , Grundy , A , Guénel , P , Hahnen , E , Haiman , C A , Håkansson , N , Hall , P , Hamann , U , Harrington , P A , Hartikainen , J M , Hartman , M , He , W , Healey , C S , Heemskerk-Gerritsen , B A M , Heyworth , J , Hillemanns , P , Hogervorst , F B L , Hollestelle , A , Hooning , M , Hopper , J , Howell , A , Huang , G , Hulick , P J , Imyanitov , E N , Sexton , A , Christian , A , Trainer , A , Spigelman , A , Fellows , A , Shelling , A , Fazio , A D , Blackburn , A , Crook , A , Meiser , B , Patterson , B , Clarke , C , Saunders , C , Hunt , C , Scott , C , Amor , D , Marsh , D , Edkins , E , Salisbury , E , Haan , E , Neidermayr , E , Macrea , F , Farshid , G , Lindeman , G , Chenevix-Trench , G , Mann , G , Giles , G , Gill , G , Thorne , H , Campbell , I , Hickie , I , Winship , I , Flanagan , J , Kollias , J , Visvader , J , Stone , J , Taylor , J , Burke , J , Saunus , J , Forbes , J , Hopper , J , Beesley , J , Kirk , J , French , J , Tucker , K , Wu , K , Phillips , K , Lipton , L , Andrews , L , Lobb , L , Walker , L , Kentwell , M , Spurdle , M , Cummings , M , Gleeson , M , Harris , M , Jenkins , M , Young , M A , Delatycki , M , Wallis , M , Burgess , M , Price , M , Brown , M , Southey , M , Bogwitz , M , Field , M , Friedlander , M , Gattas , M , Saleh , M , Hayward , N , Pachter , N , Cohen , P , Duijf , P , James , P , Simpson , P , Fong , P , Butow , P , Williams , R , Kefford , R , Scott , R , Milne , R L , Balleine , R , Dawson , S J , Lok , S , O’Connell , S , Greening , S , Nightingale , S , Edwards , S , Fox , S , McLachlan , S-A , Lakhani , S , Antill , Y , Aalfs , C , Meijers-Heijboer , H , van Engelen , K , Gille , H , Boere , I , Collée , M , van Deurzen , C , Hooning , M , Obdeijn , I-M , van den Ouweland , A , Seynaeve , C , Siesling , S , Verloop , J , van Asperen , C J , Devilee , P , van Cronenburg , T , Blok , R , de Boer , M , Garcia , E G , Adank , M , Hogervorst , F , Jenner , D , van Leeuwen , F , Rookus , M , Russell , N , Schmidt , M , van den Belt-Dusebout , S , Kets , C , Mensenkamp , A , de Bock , T , van der Hout , A , Mourits , M , Oosterwijk , J , Ausems , M , Koudijs , M , Clarke , C , Marsh , D , Scott , R , Baxter , R , Yip , D , Carpenter , J , Davis , A , Pathmanathan , N , Simpson , P , Graham , D , Sachchithananthan , M , Isaacs , C , Iwasaki , M , Jager , A , Jakimovska , M , Jakubowska , A , James , P A , Janavicius , R , Jankowitz , R C , John , E M , Johnson , N , Jones , M E , Jukkola-Vuorinen , A , Jung , A , Kaaks , R , Kang , D , Kapoor , P M , Karlan , B Y , Keeman , R , Kerin , M J , Khusnutdinova , E , Kiiski , J I , Kirk , J , Kitahara , C M , Ko , Y-D , Konstantopoulou , I , Kosma , V-M , 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-Y , Long , J , Lophatananon , A , Loud , J T , Lubiński , J , MacInnis , R J , Maishman , T , Makalic , E , Mannermaa , A , Manoochehri , M , Manoukian , S , Margolin , S , Martinez , M E , 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 M , Muñoz-Garzon , V M , Muranen , T A , Narod , S A , Nassir , R , Nathanson , K L , Neuhausen , S L , Nevanlinna , H , Neven , P , Nielsen , F C , Nikitina-Zake , L , Norman , A , Offit , K , Olah , E , Olopade , O I , Olsson , H , Orr , N , Osorio , A , Pankratz , V S , Papp , J , Park , S K , Park-Simon , T-W , Parsons , M T , Paul , J , Pedersen , I S , Peissel , B , Peshkin , B , Peterlongo , P , Peto , J , Plaseska-Karanfilska , D , Prajzendanc , K , Prentice , R , Presneau , N , Prokofyeva , D , Pujana , M A , Pylkäs , K , Radice , P , Ramus , S J , Rantala , J , Rau-Murthy , R , Rennert , G , Risch , H A , Robson , M , Romero , A , Rossing , M , Saloustros , E , Sánchez-Herrero , E , Sandler , D P , Santamariña , M , Saunders , C , Sawyer , E J , Scheuner , M T , Schmidt , D F , Schmutzler , R K , Schneeweiss , A , Schoemaker , M J , Schöttker , B , Schürmann , P , Scott , C , Scott , R J , Senter , L , Seynaeve , C M , Shah , M , Sharma , P , Shen , C-Y , Shu , X-O , Singer , C F , Slavin , T P , Smichkoska , S , Southey , M C , Spinelli , J J , Spurdle , A B , Stone , J , Stoppa-Lyonnet , D , Sutter , C , Swerdlow , A J , Tamimi , R M , Tan , Y Y , Tapper , W J , Taylor , J A , Teixeira , M R , Tengström , M , Teo , S H , Terry , M B , Teulé , A , Thomassen , M , Thull , D L , Tischkowitz , M , Toland , A E , Tollenaar , R A E M , Tomlinson , I , Torres , D , Torres-Mejía , G , Troester , M A , Truong , T , Tung , N , Tzardi , M , Ulmer , H-U , Vachon , C M , van Asperen , C J , van der Kolk , L E , van Rensburg , E J , Vega , A , Viel , A , Vijai , J , Vogel , M J , Wang , Q , Wappenschmidt , B , Weinberg , C R , Weitzel , J N , Wendt , C , Wildiers , H , Winqvist , R , Wolk , A , Wu , A H , Yannoukakos , D , Zhang , Y , Zheng , W , Hunter , D , Pharoah , P D P , Chang-Claude , J , García-Closas , M , Schmidt , M K , Milne , R L , Kristensen , V N , French , J D , Edwards , S L , Antoniou , A C , Chenevix-Trench , G , Simard , J , Easton , D F , Kraft , P , Dunning , A M , Collaborators , GEMO S , Collaborators , EMBRACE , Investigators , KC , Investigators , HEBON & Investigators , ABCTB 2020 , ' Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes ' , Nature Genetics , vol. 52 , no. 1 , pp. 56-73 . https://doi.org/10.1038/s41588-019-0537-1

Title: Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
Author: Fachal, L.; Aschard, H.; Beesley, J.; Barnes, D.R.; Allen, J.; Kar, S.; Pooley, K.A.; Dennis, J.; Michailidou, K.; Turman, C.; Soucy, P.; Lemaçon, A.; Lush, M.; Tyrer, J.P.; Ghoussaini, M.; Marjaneh, M.M.; Jiang, X.; Agata, S.; Aittomäki, K.; Alonso, M.R.; Andrulis, I.L.; Anton-Culver, H.; Antonenkova, N.N.; Arason, A.; Arndt, V.; Aronson, K.J.; Arun, B.K.; Auber, B.; Auer, P.L.; Azzollini, J.; Balmaña, J.; Barkardottir, R.B.; Barrowdale, D.; Beeghly-Fadiel, A.; Benitez, J.; Bermisheva, M.; Białkowska, K.; Blanco, A.M.; Blomqvist, C.; Blot, W.; Bogdanova, N.V.; Bojesen, S.E.; Bolla, M.K.; Bonanni, B.; Borg, A.; Bosse, K.; Brauch, H.; Brenner, H.; Briceno, I.; Brock, I.W.; Brooks-Wilson, A.; Brüning, T.; Burwinkel, B.; Buys, S.S.; Cai, Q.; Caldés, T.; Caligo, M.A.; Camp, N.J.; Campbell, I.; Canzian, F.; Carroll, J.S.; Carter, B.D.; Castelao, J.E.; Chiquette, J.; Christiansen, H.; Chung, W.K.; Claes, K.B.M.; Clarke, C.L.; Mari, V.; Berthet, P.; Castera, L.; Vaur, D.; Lallaoui, H.; Bignon, Y.-J.; Uhrhammer, N.; Bonadona, V.; Lasset, C.; Révillion, F.; Vennin, P.; Muller, D.; Gomes, D.M.; Ingster, O.; Coupier, I.; Pujol, P.; Collonge-Rame, M.-A.; Mortemousque, I.; Bera, O.; Rose, M.; Baurand, A.; Bertolone, G.; Faivre, L.; Dreyfus, H.; Leroux, D.; Venat-Bouvet, L.; Bézieau, S.; Delnatte, C.; Chiesa, J.; Gilbert-Dussardier, B.; Gesta, P.; Prieur, F.P.; Bronner, M.; Sokolowska, J.; Coulet, F.; Boutry-Kryza, N.; Calender, A.; Giraud, S.; Leone, M.; Fert-Ferrer, S.; Stoppa-Lyonnet, D.; Jiao, Y.; Lesueur, F.L.; Mebirouk, N.; Barouk-Simonet, E.; Bubien, V.; Longy, M.; Sevenet, N.; Gladieff, L.; Toulas, C.; Reimineras, A.; Sobol, H.; Paillerets, B.B.-D.; Cabaret, O.; Caron, O.; Guillaud-Bataille, M.; Rouleau, E.; Belotti, M.; Buecher, B.; Caputo, S.; Colas, C.; Pauw, A.D.; Fourme, E.; Gauthier-Villars, M.; Golmard, L.; Moncoutier, V.; Saule, C.; Donaldson, A.; Murray, A.; Brady, A.; Brewer, C.; Pottinger, C.; Miller, C.; Gallagher, D.; Gregory, H.; Cook, J.; Eason, J.; Adlard, J.; Barwell, J.; Ong, K.-R.; Snape, K.; Walker, L.; Izatt, L.; Side, L.; Tischkowitz, M.; Rogers, M.T.; Porteous, M.E.; Ahmed, M.; Morrison, P.J.; Brennan, P.; Eeles, R.; Davidson, R.; Collée, M.; Cornelissen, S.; Couch, F.J.; Cox, A.; Cross, S.S.; Cybulski, C.; Czene, K.; Daly, M.B.; de la Hoya, M.; Devilee, P.; Diez, O.; Ding, Y.C.; Dite, G.S.; Domchek, S.M.; Dörk, T.; dos-Santos-Silva, I.; Droit, A.; Dubois, S.; Dumont, M.; Duran, M.; Durcan, L.; Dwek, M.; Eccles, D.M.; Engel, C.; Eriksson, M.; Evans, D.G.; Fasching, P.A.; Fletcher, O.; Floris, G.; Flyger, H.; Foretova, L.; Foulkes, W.D.; Friedman, E.; Fritschi, L.; Frost, D.; Gabrielson, M.; Gago-Dominguez, M.; Gambino, G.; Ganz, P.A.; Gapstur, S.M.; Garber, J.; García-Sáenz, J.A.; Gaudet, M.M.; Georgoulias, V.; Giles, G.; Glendon, G.; Godwin, A.K.; Goldberg, M.S.; Goldgar, D.E.; González-Neira, A.; Tibiletti, M.G.; Greene, M.H.; Grip, M.; Gronwald, J.; Grundy, A.; Guénel, P.; Hahnen, E.; Haiman, C.A.; Håkansson, N.; Hall, P.; Hamann, U.; Harrington, P.A.; Hartikainen, J.M.; Hartman, M.; He, W.; Healey, C.S.; Heemskerk-Gerritsen, B.A.M.; Heyworth, J.; Hillemanns, P.; Hogervorst, F.B.L.; Hollestelle, A.; Hooning, M.; Hopper, J.; Howell, A.; Huang, G.; Hulick, P.J.; Imyanitov, E.N.; Sexton, A.; Christian, A.; Trainer, A.; Spigelman, A.; Fellows, A.; Shelling, A.; Fazio, A.D.; Blackburn, A.; Crook, A.; Meiser, B.; Patterson, B.; Clarke, C.; Saunders, C.; Hunt, C.; Scott, C.; Amor, D.; Marsh, D.; Edkins, E.; Salisbury, E.; Haan, E.; Neidermayr, E.; Macrea, F.; Farshid, G.; Lindeman, G.; Chenevix-Trench, G.; Mann, G.; Giles, G.; Gill, G.; Thorne, H.; Campbell, I.; Hickie, I.; Winship, I.; Flanagan, J.; Kollias, J.; Visvader, J.; Stone, J.; Taylor, J.; Burke, J.; Saunus, J.; Forbes, J.; Hopper, J.; Beesley, J.; Kirk, J.; French, J.; Tucker, K.; Wu, K.; Phillips, K.; Lipton, L.; Andrews, L.; Lobb, L.; Walker, L.; Kentwell, M.; Spurdle, M.; Cummings, M.; Gleeson, M.; Harris, M.; Jenkins, M.; Young, M.A.; Delatycki, M.; Wallis, M.; Burgess, M.; Price, M.; Brown, M.; Southey, M.; Bogwitz, M.; Field, M.; Friedlander, M.; Gattas, M.; Saleh, M.; Hayward, N.; Pachter, N.; Cohen, P.; Duijf, P.; James, P.; Simpson, P.; Fong, P.; Butow, P.; Williams, R.; Kefford, R.; Scott, R.; Milne, R.L.; Balleine, R.; Dawson, S.–J.; Lok, S.; O’Connell, S.; Greening, S.; Nightingale, S.; Edwards, S.; Fox, S.; McLachlan, S.-A.; Lakhani, S.; Antill, Y.; Aalfs, C.; Meijers-Heijboer, H.; van Engelen, K.; Gille, H.; Boere, I.; Collée, M.; van Deurzen, C.; Hooning, M.; Obdeijn, I.-M.; van den Ouweland, A.; Seynaeve, C.; Siesling, S.; Verloop, J.; van Asperen, C.J.; Devilee, P.; van Cronenburg, T.; Blok, R.; de Boer, M.; Garcia, E.G.; Adank, M.; Hogervorst, F.; Jenner, D.; van Leeuwen, F.; Rookus, M.; Russell, N.; Schmidt, M.; van den Belt-Dusebout, S.; Kets, C.; Mensenkamp, A.; de Bock, T.; van der Hout, A.; Mourits, M.; Oosterwijk, J.; Ausems, M.; Koudijs, M.; Clarke, C.; Marsh, D.; Scott, R.; Baxter, R.; Yip, D.; Carpenter, J.; Davis, A.; Pathmanathan, N.; Simpson, P.; Graham, D.; Sachchithananthan, M.; Isaacs, C.; Iwasaki, M.; Jager, A.; Jakimovska, M.; Jakubowska, A.; James, P.A.; Janavicius, R.; Jankowitz, R.C.; John, E.M.; Johnson, N.; Jones, M.E.; Jukkola-Vuorinen, A.; Jung, A.; Kaaks, R.; Kang, D.; Kapoor, P.M.; Karlan, B.Y.; Keeman, R.; Kerin, M.J.; Khusnutdinova, E.; Kiiski, J.I.; Kirk, J.; Kitahara, C.M.; Ko, Y.-D.; Konstantopoulou, I.; Kosma, V.-M.; 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.-Y.; Long, J.; Lophatananon, A.; Loud, J.T.; Lubiński, J.; MacInnis, R.J.; Maishman, T.; Makalic, E.; Mannermaa, A.; Manoochehri, M.; Manoukian, S.; Margolin, S.; Martinez, M.E.; 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.M.; Muñoz-Garzon, V.M.; Muranen, T.A.; Narod, S.A.; Nassir, R.; Nathanson, K.L.; Neuhausen, S.L.; Nevanlinna, H.; Neven, P.; Nielsen, F.C.; Nikitina-Zake, L.; Norman, A.; Offit, K.; Olah, E.; Olopade, O.I.; Olsson, H.; Orr, N.; Osorio, A.; Pankratz, V.S.; Papp, J.; Park, S.K.; Park-Simon, T.-W.; Parsons, M.T.; Paul, J.; Pedersen, I.S.; Peissel, B.; Peshkin, B.; Peterlongo, P.; Peto, J.; Plaseska-Karanfilska, D.; Prajzendanc, K.; Prentice, R.; Presneau, N.; Prokofyeva, D.; Pujana, M.A.; Pylkäs, K.; Radice, P.; Ramus, S.J.; Rantala, J.; Rau-Murthy, R.; Rennert, G.; Risch, H.A.; Robson, M.; Romero, A.; Rossing, M.; Saloustros, E.; Sánchez-Herrero, E.; Sandler, D.P.; Santamariña, M.; Saunders, C.; Sawyer, E.J.; Scheuner, M.T.; Schmidt, D.F.; Schmutzler, R.K.; Schneeweiss, A.; Schoemaker, M.J.; Schöttker, B.; Schürmann, P.; Scott, C.; Scott, R.J.; Senter, L.; Seynaeve, C.M.; Shah, M.; Sharma, P.; Shen, C.-Y.; Shu, X.-O.; Singer, C.F.; Slavin, T.P.; Smichkoska, S.; Southey, M.C.; Spinelli, J.J.; Spurdle, A.B.; Stone, J.; Stoppa-Lyonnet, D.; Sutter, C.; Swerdlow, A.J.; Tamimi, R.M.; Tan, Y.Y.; Tapper, W.J.; Taylor, J.A.; Teixeira, M.R.; Tengström, M.; Teo, S.H.; Terry, M.B.; Teulé, A.; Thomassen, M.; Thull, D.L.; Tischkowitz, M.; Toland, A.E.; Tollenaar, R.A.E.M.; Tomlinson, I.; Torres, D.; Torres-Mejía, G.; Troester, M.A.; Truong, T.; Tung, N.; Tzardi, M.; Ulmer, H.-U.; Vachon, C.M.; van Asperen, C.J.; van der Kolk, L.E.; van Rensburg, E.J.; Vega, A.; Viel, A.; Vijai, J.; Vogel, M.J.; Wang, Q.; Wappenschmidt, B.; Weinberg, C.R.; Weitzel, J.N.; Wendt, C.; Wildiers, H.; Winqvist, R.; Wolk, A.; Wu, A.H.; Yannoukakos, D.; Zhang, Y.; Zheng, W.; Hunter, D.; Pharoah, P.D.P.; Chang-Claude, J.; García-Closas, M.; Schmidt, M.K.; Milne, R.L.; Kristensen, V.N.; French, J.D.; Edwards, S.L.; Antoniou, A.C.; Chenevix-Trench, G.; Simard, J.; Easton, D.F.; Kraft, P.; Dunning, A.M.; Collaborators, GEMO Study; Collaborators, EMBRACE; Investigators, KConFab; Investigators, HEBON; Investigators, ABCTB
Contributor: University of Helsinki, Medicum
University of Helsinki, HUS Comprehensive Cancer Center
University of Helsinki, Doctoral Programme in Clinical Research
University of Helsinki, Staff Services
University of Helsinki, INDIVIDRUG - Individualized Drug Therapy
University of Helsinki, HUS Gynecology and Obstetrics
University of Helsinki, HUS Gynecology and Obstetrics
Date: 2020-01
Language: eng
Number of pages: 25
Belongs to series: Nature Genetics
ISSN: 1061-4036
URI: http://hdl.handle.net/10138/317382
Abstract: Fine-mapping of causal variants and integration of epigenetic and chromatin conformation data identify likely target genes for 150 breast cancer risk regions. Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underlying risk remain largely unknown. These regions were explored by combining association analysis with in silico genomic feature annotations. We defined 205 independent risk-associated signals with the set of credible causal variants in each one. In parallel, we used a Bayesian approach (PAINTOR) that combines genetic association, linkage disequilibrium and enriched genomic features to determine variants with high posterior probabilities of being causal. Potentially causal variants were significantly over-represented in active gene regulatory regions and transcription factor binding sites. We applied our INQUSIT pipeline for prioritizing genes as targets of those potentially causal variants, using gene expression (expression quantitative trait loci), chromatin interaction and functional annotations. Known cancer drivers, transcription factors and genes in the developmental, apoptosis, immune system and DNA integrity checkpoint gene ontology pathways were over-represented among the highest-confidence target genes.
Subject: 1184 Genetics, developmental biology, physiology
GEMO Study Collaborators
COMPREHENSIVE MOLECULAR PORTRAITS
ESTROGEN-RECEPTOR
INTEGRATIVE ANALYSIS
FUNCTIONAL VARIANTS
SUSCEPTIBILITY LOCI
PROTEIN FUNCTION
CHROMATIN
ENHANCER
REVEALS
GENOME-WIDE ASSOCIATION
COMPREHENSIVE MOLECULAR PORTRAITS
ESTROGEN-RECEPTOR
INTEGRATIVE ANALYSIS
FUNCTIONAL VARIANTS
SUSCEPTIBILITY LOCI
PROTEIN FUNCTION
CHROMATIN
ENHANCER
REVEALS
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