المؤلفون: Ibáñez, M., Alonso, M.R.

المصدر: Bolletí de la Societat d'Història Natural de les Balears; 1979: Vol.: 23; p. 69-78

وصف الملف: text/html; application/pdf

العلاقة: https://www.raco.cat/index.php/BolletiSHNBalears/article/view/171258/223575Test; https://www.raco.cat/index.php/BolletiSHNBalears/article/view/171258/244800Test

الوصول الحر: https://www.raco.cat/index.php/BolletiSHNBalears/article/view/171258Test

المؤلفون: Alonso, M.R., Ibáñez, M.

المصدر: Bolletí de la Societat d'Història Natural de les Balears; 1981: Vol.: 25; p. 103-123

وصف الملف: text/html; application/pdf

العلاقة: https://www.raco.cat/index.php/BolletiSHNBalears/article/view/171102/223419Test; https://www.raco.cat/index.php/BolletiSHNBalears/article/view/171102/244828Test

الوصول الحر: https://www.raco.cat/index.php/BolletiSHNBalears/article/view/171102Test

المؤلفون: 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., Gill, G., Thorne, H., Hickie, I., Winship, I., Flanagan, J., Kollias, J., Visvader, J., Stone, J., Taylor, J., Burke, J., Saunus, J., Forbes, J., Kirk, J., French, J., Tucker, K., Wu, K., Phillips, K., Lipton, L., Andrews, L., Lobb, 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., van Deurzen, C., Obdeijn, I.-M., van den Ouweland, A., Seynaeve, C., Siesling, S., Verloop, J., van Asperen, C.J., 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., Baxter, R., Yip, D., Carpenter, J., Davis, A., Pathmanathan, N., 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., 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., 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., Sawyer, E.J., Scheuner, M.T., Schmidt, D.F., Schmutzler, R.K., Schneeweiss, A., Schoemaker, M.J., Schöttker, B., Schürmann, P., 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., 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., 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 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., Kristensen, V.N., French, J.D., Edwards, S.L., Antoniou, A.C., Simard, J., Easton, D.F., Kraft, P., Dunning, A.M., Collaborators, GEMO Study, Collaborators, EMBRACE, Investigators, KConFab, Investigators, HEBON, Investigators, ABCTB

المساهمون: Medicum, Kristiina Aittomäki / Principal Investigator, HUSLAB, Department of Medical and Clinical Genetics, University of Helsinki, HUS Comprehensive Cancer Center, Department of Oncology, Clinicum, Staff Services, INDIVIDRUG - Individualized Drug Therapy, HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology

مصطلحات موضوعية: 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

الوصف: 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. ; Peer reviewed

وصف الملف: application/pdf

العلاقة: 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/s41588-019-0537-1Test; Bibtex: Fachal202056; ORCID: /0000-0002-5895-1808/work/70946402; ORCID: /0000-0002-4089-7209/work/83053906; e5e4373c-bc7a-478c-b029-691470af27bd; http://hdl.handle.net/10138/317382Test; 000508163500002

الإتاحة: http://hdl.handle.net/10138/317382Test

المؤلفون: Wilcox, N., Dumont, M., Gonzalez-Neira, A., Carvalho, S., Beauparlant, C.J., Crotti, M., Luccarini, C., Soucy, P., Dubois, S., Nunez-Torres, R., Pita, G., Gardner, E.J., Dennis, J., Alonso, M.R., Alvarez, N., Baynes, C., Collin-Deschesnes, A.C., Desjardins, S., Becher, H., Behrens, S., Bolla, M.K., Castelao, J.E., Chang-Claude, J., Cornelissen, S., Dork, T., Engel, C., Gago-Dominguez, M., Guenel, P., Hadjisavvas, A., Hahnen, E., Hartman, M., Herraez, B., Kiechle, M., SGBCC Investigators, Jung, A.D., Keeman, R., Li, J.M., Loizidou, M.A., Lush, M., Michailidou, K., Panayiotidis, M.I., Sim, X., Teo, S.H., Tyrer, J.P., Kolk, L.E. van der, Wahlstrom, C., Wang, Q., Perry, J.R.B., Benitez, J., Schmidt, M.K., Schmutzler, R.K., Pharoah, P.D.P., Droit, A., Dunning, A.M., Kvist, A., Devilee, P., Easton, D.F., Simard, J.

المصدر: Nature Genetics

الوصف: Linkage and candidate gene studies have identified several breast cancer susceptibility genes, but the overall contribution of coding variation to breast cancer is unclear. To evaluate the role of rare coding variants more comprehensively, we performed a meta-analysis across three large whole-exome sequencing datasets, containing 26,368 female cases and 217,673 female controls. Burden tests were performed for protein-truncating and rare missense variants in 15,616 and 18,601 genes, respectively. Associations between protein-truncating variants and breast cancer were identified for the following six genes at exome-wide significance (P < 2.5 x 10(-6)): the five known susceptibility genes ATM, BRCA1, BRCA2, CHEK2 and PALB2, together with MAP3K1. Associations were also observed for LZTR1, ATR and BARD1 with P < 1 x 10(-4). Associations between predicted deleterious rare missense or protein-truncating variants and breast cancer were additionally identified for CDKN2A at exome-wide significance. The overall contribution of coding variants in genes beyond the previously known genes is estimated to be small.Meta-analysis of three large whole-exome sequencing datasets highlights protein-truncating and rare missense variants associated with breast cancer susceptibility. ; Hereditary cancer genetics

وصف الملف: application/pdf

العلاقة: https://www.nature.com/articles/s41588-023-01466-zTest; lumc-id: 183602437; https://hdl.handle.net/1887/3764282Test

الإتاحة: https://doi.org/10.1038/s41588-023-01466-zTest
https://hdl.handle.net/1887/3764282Test
https://www.nature.com/articles/s41588-023-01466-zTest

المؤلفون: Dorling, L., Carvalho, S., Allen, J., Gonzalez-Neira, A., Luccarini, C., Wahlstrom, C., Pooley, K.A., Parsons, M.T., Fortuno, C., Wang, Q., Bolla, M.K., Dennis, J., Keeman, R., Alonso, M.R., Alvarez, N., Herraez, B., Fernandez, V., Nunez-Torres, R., Osorio, A., Valcich, J., Li, M., Torngren, T., Harrington, P.A., Baynes, C., Conroy, D.M., Decker, B., Fachal, L., Mavaddat, N., Ahearn, T., Aittomaki, K., Antonenkova, N.N., Arnold, N., Arveux, P., Ausems, M.G.E.M., Auvinen, P., Becher, H., Beckmann, M.W., Behrens, S., Bermisheva, M., Bialkowska, K., Blomqvist, C., Bogdanova, N.V., Bogdanova-Markov, N., Bojesen, S.E., Bonanni, B., Borresen-Dale, A.L., Brauch, H., Bremer, M., Briceno, I., Bruning, T., Burwinkel, B., Cameron, D.A., Camp, N.J., Campbell, A., Carracedo, A., Castelao, J.E., Cessna, M.H., Chanock, S.J., Christiansen, H., Collee, J.M., Cordina-Duverger, E., Cornelissen, S., Czene, K., Dork, T., Ekici, A.B., Engel, C., Eriksson, M., Fasching, P.A., Figueroa, J., Flyger, H., Forsti, A., Gabrielson, M., Gago-Dominguez, M., Georgoulias, V., Gil, F., Giles, G.G., Glendon, G., Garcia, E.B.G., Alnaes, G.I.G., Guenel, P., Hadjisavvas, A., Haeberle, L., Hahnen, E., Hall, P., Hamann, U., Harkness, E.F., Hartikainen, J.M., Hartman, M., He, W., Heemskerk-Gerritsen, B.A.M., Hillemanns, P., Hogervorst, F.B.L., Hollestelle, A., Ho, W.K., Hooning, M.J., Howell, A., Humphreys, K., Idris, F., Jakubowska, A., Jung, A., Kapoor, P.M., Kerin, M.J., Khusnutdinova, E., Kim, S.W., Ko, Y.D., Kosma, V.M., Kristensen, V.N., Kyriacou, K., Lakeman, I.M.M., Lee, J.W., Lee, M.H., Li, J.M., Lindblom, A., W.Y. lo, Loizidou, M.A., Lophatananon, A., Lubinski, J., MacInnis, R.J., Madsen, M.J., Mannermaa, A., Manoochehri, M., Manoukian, S., Margolin, S., Martinez, M.E., Maurer, T., Mavroudis, D., McLean, C., Meindl, A., Mensenkamp, A.R., Michailidou, K., Miller, N., Taib, N.A.M., Muir, K., Mulligan, A.M., Nevanlinna, H., Newman, W.G., Nordestgaard, B.G., Ng, P.S., Oosterwijk, J.C., Park, S.K., Park-Simon, T.W., Perez, J.I.A., Peterlongo, P., Porteous, D.J., Prajzendanc, K., Prokofyeva, D., Radice, P., Rashid, M.U., Rhenius, V., Rookus, M.A., Rudiger, T., Saloustros, E., Sawyer, E.J., Schmutzler, R.K., Schneeweiss, A., Schurmann, P., Shah, M., Sohn, C., Southey, M.C., Surowy, H., Suvanto, M., Thanasitthichai, S., Tomlinson, I., Torres, D., Truong, T., Tzardi, M., Valova, Y., Asperen, C.J. van, Dam, R.M. van, Ouweland, A.M.W. van den, Kolk, L.E. van der, Veen, E.M. van, Wendt, C., Williams, J.A., Yang, X.H.R., Yoon, S.Y., Zamora, M.P., Evans, D.G., Hoya, M. de la, Simard, J., Antoniou, A.C., Borg, A., Andrulis, I.L., Chang-Claude, J., Garcia-Closas, M., Chenevix-Trench, G., Milne, R.L., Pharoah, P.D.P., Schmidt, M.K., Spurdle, A.B., Vreeswijk, M.P.G., Benitez, J., Dunning, A.M., Kvist, A., Teo, S.H., Devilee, P., Easton, D.F., Breast Canc Assoc Consortium

المساهمون: Erasmus MC other, Medical Oncology, Clinical Genetics, Keeman, Renske [0000-0002-5452-9933], Decker, Brennan [0000-0003-4516-7421], Eriksson, Mikael [0000-0001-8135-4270], Martinez, Maria Elena [0000-0002-6728-1834], Surowy, Harald [0000-0002-3595-9188], Pharoah, Paul DP [0000-0001-8494-732X], Apollo - University of Cambridge Repository, Damage and Repair in Cancer Development and Cancer Treatment (DARE), Targeted Gynaecologic Oncology (TARGON), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica

المصدر: New England Journal of Medicine, 384(5), 428-439. MASSACHUSETTS MEDICAL SOC
Dorling, L, Carvalho, S, Allen, J, González-Neira, A, Luccarini, C, Wahlström, C, A. Pooley, K, T. Parsons, M, Fortuno, C, Wang, Q, K. Bolla, M, Dennis, J, Keeman, R, Alonso, M R, Álvarez, N, Herraez, B, Fernandez, V, Núñez-Torres, R, Osario, A, Valchich, J, Li, M, Törngren, T, A. Harrington, P, Baynes, C, M. Conroy, D, Decker, B, Fachal, L, Mavaddat, N, Ahearn, T, Aittomäki, K, N. Antonenkova, N, Arnold, N, Arveux, P, G.E.M Ausems, M, Auvinen, P, Becher, H, W. Beckmann, M, Behrens, S, Bermisheva, M, Białkowska, K, Blomqvist, C, V. Bogdanova, N, Bogdanova-Markov, N, E. Bojesen, S, Bonanni, B, Børresen-Dale, A-L, Brauch, H, Bremer, M, Briceno, I, Brüning, T, Burwinkel, B & Cameron, D A 2021, ' Breast cancer risk genes: association analysis in more than 113,000 women ', New England Journal of Medicine . https://doi.org/10.1056/NEJMoa1913948Test
N Engl J Med
New England Journal of Medicine, 384(5), 428-439. Massachussetts Medical Society
Breast Cancer Association Consortium 2021, ' Breast Cancer Risk Genes — Association Analysis in More than 113,000 Women ', New England Journal of Medicine, vol. 384, no. 5, pp. 428-439 . https://doi.org/10.1056/NEJMoa1913948Test
The New England Journal of Medicine, 384, 5, pp. 428-439
New England Journal of Medicine
New England Journal of Medicine, 384(5), 428-439. MASSACHUSETTS MEDICAL SOCIETY
The New England Journal of Medicine, 384, 428-439

مصطلحات موضوعية: Adult, Risk, Oncology, medicine.medical_specialty, Adolescent, PALB2, Genetic counseling, Genes, BRCA2, Mutation, Missense, Genes, BRCA1, Estrogen receptor, Breast Neoplasms, 030204 cardiovascular system & hematology, OVARIAN-CANCER, Article, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, SDG 3 - Good Health and Well-being, Internal medicine, Odds Ratio, medicine, Humans, Genetic Predisposition to Disease, 030212 general & internal medicine, skin and connective tissue diseases, CHEK2, Aged, Genetic testing, Genetic association, Aged, 80 and over, Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], medicine.diagnostic_test, MUTATIONS, business.industry, Age Factors, Genetic Variation, Sequence Analysis, DNA, General Medicine, Odds ratio, Middle Aged, BRCA1, medicine.disease, 3. Good health, Logistic Models, Female, business

الوصف: BACKGROUNDGenetic testing for breast cancer susceptibility is widely used, but for many genes,evidence of an association with breast cancer is weak, underlying risk estimatesare imprecise, and reliable subtype-specific risk estimates are lacking.METHODSWe used a panel of 34 putative susceptibility genes to perform sequencing onsamples from 60,466 women with breast cancer and 53,461 controls. In separateanalyses for protein-truncating variants and rare missense variants in these genes,we estimated odds ratios for breast cancer overall and tumor subtypes. We evaluatedmissense-variant associations according to domain and classification of pathogenicity.RESULTSProtein-truncating variants in 5 genes (ATM, BRCA1, BRCA2, CHEK2, and PALB2)were associated with a risk of breast cancer overall with a P value of less than0.0001. Protein-truncating variants in 4 other genes (BARD1, RAD51C, RAD51D,and TP53) were associated with a risk of breast cancer overall with a P value ofless than 0.05 and a Bayesian false-discovery probability of less than 0.05. Forprotein-truncating variants in 19 of the remaining 25 genes, the upper limit ofthe 95% confidence interval of the odds ratio for breast cancer overall was lessthan 2.0. For protein-truncating variants in ATM and CHEK2, odds ratios werehigher for estrogen receptor (ER)–positive disease than for ER-negative disease;for protein-truncating variants in BARD1, BRCA1, BRCA2, PALB2, RAD51C, andRAD51D, odds ratios were higher for ER-negative disease than for ER-positivedisease. Rare missense variants (in aggregate) in ATM, CHEK2, and TP53 wereassociated with a risk of breast cancer overall with a P value of less than 0.001.For BRCA1, BRCA2, and TP53, missense variants (in aggregate) that would be classified as pathogenic according to standard criteria were associated with a riskof breast cancer overall, with the risk being similar to that of protein-truncatingvariants.CONCLUSIONSThe results of this study define the genes that are most clinically useful for inclusion on panels for the prediction of breast cancer risk, as well as provide estimatesof the risks associated with protein-truncating variants, to guide genetic counseling. (Funded by European Union Horizon 2020 programs and others.)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::853c9edad5e502a334ea18615af80eeaTest
https://doi.org/10.1056/nejmoa1913948Test

المؤلفون: Peralta, I., Marrassini, C., Saint Martin, M., Cogoi, L., Alonso, M.R., Gugliucci, Alejandro, Anesini, C.

المصدر: Faculty Publications & Research of the TUC College of Osteopathic Medicine

مصطلحات موضوعية: osteopathic medicine, Osteopathic Medicine and Osteopathy

العلاقة: https://touroscholar.touro.edu/tuccom_pubs/255Test; https://doi.org/10.1186/s12906-022-03547-8Test

الإتاحة: https://doi.org/10.1186/s12906-022-03547-8Test
https://touroscholar.touro.edu/tuccom_pubs/255Test

المؤلفون: Ghoussaini, M. (Maya), French, J.D. (Juliet), Michailidou, K. (Kyriaki), Nord, S. (Silje), Beesley, J. (Jonathan), Canisus, S. (Sander), Hillman, K.M. (Kristine), Kaufmann, S. (Susanne), Sivakumaran, H. (Haran), Moradi Marjaneh, M. (Mahdi), Lee, J.S. (Jason), Dennis, J. (Joe), Bolla, M.K. (Manjeet K.), Wang, Q. (Qin), Dicks, E. (Ed), Milne, R.L. (Roger), Hopper, J.L. (John L.), Southey, M.C. (Melissa C.), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Muir, K.R. (K.), Lophatananon, A. (Artitaya), Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Fletcher, O. (Olivia), Johnson, N. (Nichola), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Burwinkel, B. (Barbara), Marme, F. (Frederik), Guénel, P. (Pascal), Truong, T. (Thérèse), Bojesen, S.E. (Stig), Flyger, H. (Henrik), Benítez, J. (Javier), González-Neira, A. (Anna), Alonso, M.R. (Rosario), Pita, G. (Guillermo), Neuhausen, S.L. (Susan), Anton-Culver, H. (Hoda), Brenner, H. (Hermann), Arndt, V. (Volker), Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Hamann, U. (Ute), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Nevanlinna, H. (Heli), Khan, S. (Sofia), Matsuo, K. (Keitaro), Ito, H. (Hidemi), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kosma, V-M. (Veli-Matti), Wu, A.H. (Anna), Van Den Berg, D. (David), Lambrechts, D. (Diether), Floris, O.A.M., Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Radice, P. (Paolo), Barile, M. (Monica), Couch, F.J. (Fergus), Hallberg, E. (Emily), Giles, G.G. (Graham G.), Haiman, C.A. (Christopher A.), Le Marchand, L. (Loic), Goldberg, M.S. (Mark), Teo, S.-H. (Soo-Hwang), Yip, C.H. (Cheng Har), Borresen-Dale, A.-L. (Anne-Lise), Zheng, W. (Wei), Cai, Q. (Qiuyin), Winqvist, R. (Robert), Pykäs, K. (Katri), Andrulis, I.L. (Irene), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Hall, P. (Per), Czene, K. (Kamila), Brand, J.S. (Judith S.), Darabi, H. (Hatef), Eriksson, M. (Mats), Hooning, M.J. (Maartje), Koppert, L.B. (Linetta B.), Li, J. (Jingmei), Shu, X.-O. (Xiao-Ou), Zheng, Y. (Ying), Cox, A. (Angela), Cross, S.S. (Simon), Shah, M. (Mitul), Rhenius, V. (Valerie), Choi, J.-Y. (Ji-Yeob), Kang, D. (Daehee), Hartman, J.M. (Joost), Chia, K.S. (Kee Seng), Kabisch, M. (Maria), Torres, D. (Diana), Luccarini, C. (Craig), Conroy, D. (Don), Jakubowska, A. (Anna), Lubinski, J. (Jan), Sangrajrang, S. (Suleeporn), Brennan, P. (Paul), Olswold, C. (Curtis), Slager, S. (Susan), Shen, C.-Y. (Chen-Yang), Hou, M.-F. (Ming-Feng), Swerdlow, A.J. (Anthony ), Schoemaker, M. (Minouk), Simard, J. (Jacques), Pharoah, P.D.P. (Paul), Kristensen, V. (Vessela), Chenevix-Trench, G. (Georgia), Easton, D.F. (Douglas F.), Dunning, A.M. (Alison), Edwards, S.L. (Stacey)

المصدر: American Journal of Human Genetics vol. 99 no. 4, pp. 903-911

الوصف: Genome-wide association studies (GWASs) have revealed increased breast cancer risk associated with multiple genetic variants at 5p12. Here, we report the fine mapping of this locus using data from 104,660 subjects from 50 case-control studies in the Breast Cancer Association Consortium (BCAC). With data for 3,365 genotyped and imputed SNPs across a 1 Mb region (positions 44,394,495–45,364,167; NCBI build 37), we found evidence for at least three independent signals: the strongest signal, consisting of a single SNP rs10941679, was associated with risk of estrogen-receptor-positive (ER+) breast cancer (per-g allele OR ER+ = 1.15; 95% CI 1.13–1.18; p = 8.35 × 10−30). After adjustment for rs10941679, we detected signal 2, consisting of 38 SNPs more strongly associated with ER-negative (ER−) breast cancer (lead SNP rs6864776: per-a allele OR ER− = 1.10; 95% CI 1.05–1.14; p conditional = 1.44 × 10−12), and a single signal 3 SNP (rs200229088: per-t allele OR ER+ = 1.12; 95% CI 1.09–1.15; p conditional = 1.12 × 10−05). Expression quantitative trait locus analysis in normal breast tissues and breast tumors showed that the g (risk) allele of rs10941679 was associated with increased expression of FGF10 and MRPS30. Functional assays demonstrated that SNP rs10941679 maps to an enhancer element that physically interacts with the FGF10 and MRPS30 promoter regions in breast cancer cell lines. FGF10 is an oncogene that binds to FGFR2 and is overexpressed in ∼10% of human breast cancers, whereas MRPS30 plays a key role in apoptosis. These data suggest that the strongest signal of association at 5p12 is mediated through coordinated activation of FGF10 and MRPS30, two candidate genes for breast cancer pathogenesis.

وصف الملف: application/pdf

العلاقة: http://repub.eur.nl/pub/96384Test; urn:hdl:1765/96384

الإتاحة: https://doi.org/10.1016/j.ajhg.2016.07.017Test
http://repub.eur.nl/pub/96384Test

المؤلفون: Southey, M.C. (Melissa), Goldgar, D. (David), Winqvist, R. (Robert), Pykäs, K. (Katri), Couch, F.J. (Fergus), Tischkowitz, M. (Marc), Foulkes, W.D. (William), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Rensburg, E.J. (Elizabeth) van, Heikkinen, T. (Tuomas), Nevanlinna, H. (Heli), Hopper, J.L. (John), Dörk, T. (Thilo), Claes, K.B.M. (Kathleen B.M.), Reis-Filho, J.S. (Jorge), Teo, Z.L. (Zhi Ling), Radice, P. (Paolo), Catucci, I. (Irene), Peterlongo, P. (Paolo), Tsimiklis, H. (Helen), Odefrey, F. (Fabrice), Dowty, J.G. (James), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Hogervorst, F.B.L. (Frans), Verhoef, S., Carpenter, T.A. (Adrian), Clarke, C. (Christine), Scott, R.J. (Rodney), Fasching, P.A. (Peter), Haeberle, L. (Lothar), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Fletcher, O. (Olivia), Johnson, N. (Nichola), Bolla, M.K. (Manjeet K.), Sawyer, E.J. (Elinor J.), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Marme, F. (Federik), Burwinkel, B. (Barbara), Yang, R. (Rongxi), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Sanchez, M. (Marie), Bojesen, S.E. (Stig), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Menéndez, P. (Primitiva), Anton-Culver, H. (Hoda), Neuhausen, S.L. (Susan), Ziogas, A. (Argyrios), Clarke, C.A. (Christina), Brenner, H. (Hermann), Arndt, V. (Volker), Stegmaier, C. (Christa), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Ko, Y.-D. (Yon-Dschun), Muranen, T.A. (Taru A.), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia N.), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Spurdle, A.B. (Amanda), Smeets, D. (Dominiek), Beuselinck, B. (B.), Floris, O.A.M., Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Olson, J.E. (Janet), Vachon, C. (Celine), Pankratz, V.S. (Shane), McLean, C.A. (Catriona Ann), Haiman, C.A. (Christopher A.), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick R), Le Marchand, L. (Loic), Kristensen, V. (Vessela), Alnæs, G.G. (Grethe Grenaker), Zheng, W. (Wei), Hunter, D. (David), Lindstrom, S. (Stephen), Hankinson, S.E. (Susan E.), Kraft, P. (Peter), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.-M. (Anna-Marie), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Kauppila, S. (Saila), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Hollestelle, A. (Antoinette), García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Czene, K. (Kamila), Darabi, H. (Hatef), Eriksson, M. (Mats), Eccles, D. (Diana), Rafiq, M. (Meena), Tapper, W. (William), Gerty, S.M. (Sue), Hooning, M.J. (Maartje), Martens, J.W.M. (John), Collée, J.M. (Margriet), Tilanus-Linthorst, M.M.A. (Madeleine), Hall, P. (Per), Li, J. (Jingmei), Brand, J.S. (Judith S.), Humphreys, K. (Keith), Cox, A. (Angela), Reed, M.W.R. (Malcolm), Luccarini, C. (Craig), Baynes, C. (Caroline), Dunning, A.M. (Alison), Hamann, U. (Ute), Torres, D. (Diana), Ulmer, H.U. (Hans), Rud̈iger, T. (Thomas), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Slager, S. (Susan), Toland, A.E. (Amanda), Ambrosone, C.B. (Christine), Yannoukakos, D. (Drakoulis), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Jones, M. (Michael), González-Neira, A. (Anna), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Álvarez, N. (Nuria), Herrero, D. (Daniel), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Simard, J. (Jacques), Dumont, M. (Martine), Soucy, P. (Penny), Eeles, R. (Rosalind), Muir, K.R. (K.), Wiklund, F. (Fredrik), Grönberg, H. (Henrik), Schleutker, J. (Johanna), Nordestgaard, B.G. (Børge), Weischer, M. (Maren), Travis, S.P.L. (Simon), Neal, D. (David), Donovan, J. (Jenny), Hamdy, F. (Freddie), Khaw, K.T., Stanford, J.L. (Janet L.), Blot, W.J. (William), Thibodeau, S.N. (Stephen), Schaid, D.J. (D.), Kelley, J.L. (Joseph L.), Maier, C. (Christiane), Kibel, A. (Adam), Cybulski, C. (Cezary), Cannon-Albright, L.A. (Lisa), Butterbach, K. (Katja), Park, J. (Jong), Kaneva, R. (Radka), Batra, J. (Jyotsna), Teixeira, P.J., Kote-Jarai, Z., Al Olama, A.A. (Ali Amin), Benlloch, S. (Sara), Renner, S.P. (S.), Hartmann, A. (Arndt), Hein, A. (Alexander), Ruebner, M. (Matthias), Lambrechts, D. (Diether), Van Nieuwenhuysen, E. (Els), Vergote, I. (Ignace), Lambretchs, S. (Sandrina), Doherty, J.A. (Jennifer A.), Rossing, M.A. (Mary Anne), Nickels, S. (Stefan), Eilber, U. (Ursula), Wang-Gohrke, S. (Shan), Odunsi, K. (Kunle), Sucheston-Campbell, L.E. (Lara E.), Friel, G. (Grace), Lurie, G. (Galina), Killeen, J.L. (Jeffrey L.), Wilkens, L.R. (Lynne R.), Goodman, M.T. (Marc), Runnebaum, I.B. (Ingo), Hillemanns, P. (Peter), Pelttari, L.M. (Liisa), Butzow, R. (Ralf), Modugno, F. (Francesmary), Edwards, R. (Robert), Ness, R.B. (Roberta), Moysich, K.B. (Kirsten), Bois, A. (Andreas du), Heitz, P.U., Harter, P. (Philipp), Kommoss, S. (Stefan), Karlan, B.Y. (Beth Y.), Walsh, C.S. (Christine), Lester, K.J. (Kathryn), Jensen, A. (Allan), Kjaer, M. (Michael), Høgdall, E. (Estrid), Peissel, B. (Bernard), Bonnani, B. (Bernardo), Bernard, L. (Loris), Goode, E.L. (Ellen), Fridley, B.L. (Brooke), Vierkant, R.A. (Robert), Cunningham, J.M. (Julie), Larson, M.C. (Melissa), Fogarty, Z.C. (Zachary C.), Kalli, K.R. (Kimberly R.), Liang, D. (Dong), Lu, K.H. (Karen), Hildebrandt, M.A.T. (Michelle A.T.), Wu, X. (Xifeng), Levine, D.A. (Douglas), Dao, F. (Fanny), Bisogna, M. (Maria), Berchuck, A. (Andrew), Iversen, E. (Erik), Marks, J.R. (Jeffrey), Akushevich, L. (Lucy), Cramer, D.W. (Daniel), Schildkraut, J.M. (Joellen), Terry, K.L. (Kathryn), Poole, E.M. (Elizabeth), Stampfer, M.J. (Meir J.), Tworoger, S.S. (Shelley S.), Bandera, E.V. (Elisa), Orlow, I. (Irene), Olson, S.H. (Sara), Bjorge, L. (Line), Salvesen, H.B. (Helga), Altena, A.M. (Anne) van, Aben, K.K.H. (Katja), Kiemeney, L.A.L.M. (Bart), Massuger, L.F. (Leon), Pejovic, T. (Tanja), Bean, Y. (Yukie), Brooks-Wilson, A. (Angela), Kelemen, L.E. (Linda), Cook, L.S. (Linda S.), Le, N.D. (Nhu D.), Górski, B. (Bohdan), Gronwald, J. (Jacek), Menkiszak, J. (Janusz), Høgdall, C.K. (Claus), Lundvall, L. (Lene), Nedergaard, L. (Lotte), Engelholm, S.A. (Svend Aage), Dicks, E. (Ed), Tyrer, J.P. (Jonathan), Campbell, I. (Ian), McNeish, I. (Iain), Paul, J. (James), Siddiqui, N. (Nadeem), Glasspool, R. (Rosalind), Whittemore, A.S. (Alice), Rothstein, J.H. (Joseph H.), McGuire, W.P., Sieh, W. (Weiva), Cai, H. (Hui), Shu, X.-O. (Xiao-Ou), Teten, R.T. (Rachel T.), Sutphen, R. (Rebecca), McLaughlin, J. (John), Narod, S.A. (Steven A.), Phelan, C. (Catherine), Monteiro, A.N.A. (Alvaro N.), Fenstermacher, D. (David), Lin, H.-Y. (Hui-Yi), Permuth, J.B. (Jennifer B.), Sellers, T.A. (Thomas A.), Chen, Y.A. (Y Ann), Tsai, Y.-Y. (Ya-Yu), Chen, Z. (Zhihua), Gentry-Maharaj, A. (Aleksandra), Gayther, S.A. (Simon), Ramus, S.J. (Susan), Menon, U. (Usha), Wu, A.H. (Anna), Pearce, C.L. (Celeste), Van Den Berg, D. (David), Pike, M.C. (Malcolm C.), Dansonka-Mieszkowska, A. (Agnieszka), Plisiecka-Halasa, J. (Joanna), Moes-Sosnowska, J. (Joanna), Kupryjanczyk, J. (Jolanta), Pharoah, P.D.P. (Paul), Song, H. (Honglin), Winship, I.M. (Ingrid), Wauters, E. (Els), Chenevix-Trench, G. (Georgia), Giles, G.G. (Graham G.), Tavtigian, S.V. (Sean), Easton, D.F. (Douglas F.), Milne, R.L. (Roger)

المصدر: Journal of Medical Genetics vol. 53 no. 12, pp. 800-811

الوصف: Background The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with rare BRCA2 mutations. We aimed to estimate the relative risks associated with specific rare variants in PALB2, CHEK2 and ATM via a multicentre case-control study. Methods We genotyped 10 rare mutations using the custom iCOGS array: PALB2 c.1592delT, c.2816T > G and c.3113G > A, CHEK2 c.349A > G, c.538C > T, c.715G > A, c.1036C > T, c.1312G > T, and c.1343T > G and ATM c.7271T > G. We assessed associations with breast cancer risk (42 671 cases and 42 164 controls), as well as prostate (22 301 cases and 22 320 controls) and ovarian (14 542 cases and

وصف الملف: application/pdf

العلاقة: http://repub.eur.nl/pub/97175Test; urn:hdl:1765/97175

الإتاحة: https://doi.org/10.1136/jmedgenet-2016-103839Test
http://repub.eur.nl/pub/97175Test

المؤلفون: Darabi, H. (Hatef), Beesley, J. (Jonathan), Droit, A. (Arnaud), Kar, S. (Siddhartha), Nord, S. (Silje), Marjaneh, M.M. (Mahdi Moradi), Soucy, P. (Penny), Michailidou, K. (Kyriaki), Ghoussaini, M. (Maya), Wahl, H.F. (Hanna Fues), Bolla, M.K. (Manjeet K.), Wang, Q. (Qin), Dennis, J. (Joe), Alonso, M.R. (Rosario), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Beckmann, M.W. (Matthias), Benítez, J. (Javier), Bogdanova, N.V. (Natalia), Bojesen, S.E. (Stig), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Broeks, A. (Annegien), Brüning, T. (Thomas), Burwinkel, B. (Barbara), Chang-Claude, J. (Jenny), Choi, J.-Y. (Ji-Yeob), Conroy, D. (Don), Couch, F.J. (Fergus), Cox, A. (Angela), Cross, S.S. (Simon), Czene, K. (Kamila), Devilee, P. (Peter), Dörk, T. (Thilo), Easton, D.F. (Douglas F.), Fasching, P.A. (Peter), Figueroa, J.D. (Jonine), Fletcher, O. (Olivia), Flyger, H. (Henrik), Galle, E. (Eva), García-Closas, M. (Montserrat), Giles, G.G. (Graham G.), Goldberg, M.S. (Mark), González-Neira, A. (Anna), Guénel, P. (Pascal), Haiman, C.A. (Christopher A.), Hallberg, E. (Emily), Hamann, U. (Ute), Hartman, J.M. (Joost), Hollestelle, A. (Antoinette), Hopper, J.L. (John), Ito, H. (Hidemi), Jakubowska, A. (Anna), Johnson, N. (Nichola), Kang, D. (Daehee), Khan, S. (Sofia), Kosma, V-M. (Veli-Matti), Kriege, M. (Mieke), Kristensen, V. (Vessela), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lee, S.C. (Soo Chin), Lindblom, A. (Annika), Lophatananon, A. (Artitaya), Lubinski, J. (Jan), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Margolin, S. (Sara), Matsuo, K. (Keitaro), Mayes, R. (Rebecca), McKay, J. (James), Meindl, A. (Alfons), Milne, R.L. (Roger), Muir, K.R. (K.), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Olswold, C. (Curtis), Orr, N. (Nick), Peterlongo, P. (Paolo), Pita, G. (Guillermo), Pykäs, K. (Katri), Rudolph, A. (Anja), Sangrajrang, S. (Suleeporn), Sawyer, E.J. (Elinor J.), Schmidt, M.K. (Marjanka), Schmutzler, R.K. (Rita), Seynaeve, C.M. (Caroline), Shah, M. (Mitul), Shen, C.-Y. (Chen-Yang), Shu, X.-O. (Xiao-Ou), Southey, M.C. (Melissa), Stram, D.O. (Daniel O.), Surowy, H. (Harald), Swerdlow, A.J. (Anthony ), Teo, S.-H. (Soo-Hwang), Tessier, D.C. (Daniel C.), Tomlinson, I.P. (Ian), Torres, D. (Diana), Truong, T. (Thérèse), Vachon, C. (Celine), Vincent, D. (Daniel), Winqvist, R. (Robert), Wu, A.H. (Anna), Wu, P.-E. (Pei-Ei), Yip, C.H. (Cheng Har), Zheng, W. (Wei), Pharoah, P.D.P. (Paul), Hall, P. (Per), Edwards, S.L. (Stacey), Simard, J. (Jacques), French, J.D. (Juliet), Chenevix-Trench, G. (Georgia), Dunning, A.M. (Alison)

المصدر: Scientific Reports vol. 6

الوصف: Genome-wide association studies have found SNPs at 17q22 to be associated with breast cancer risk. To identify potential causal variants related to breast cancer risk, we performed a high resolution fine-mapping analysis that involved genotyping 517 SNPs using a custom Illumina iSelect array (iCOGS) followed by imputation of genotypes for 3,134 SNPs in more than 89,000 participants of European ancestry from the Breast Cancer Association Consortium (BCAC). We identified 28 highly correlated common variants, in a 53 Kb region spanning two introns of the STXBP4 gene, that are strong candidates for driving breast cancer risk (lead SNP rs2787486 (OR = 0.92; CI 0.90-0.94; P = 8.96 × 1015)) and are

وصف الملف: application/pdf

العلاقة: http://repub.eur.nl/pub/97459Test; urn:hdl:1765/97459

الإتاحة: https://doi.org/10.1038/srep32512Test
http://repub.eur.nl/pub/97459Test

المؤلفون: Michailidou, K. (Kyriaki), Beesley, J. (Jonathan), Lindstrom, S. (Stephen), Canisius, S. (Sander), Dennis, J. (Joe), Lush, M. (Michael), Maranian, M. (Melanie), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Shah, M. (Mitul), Perkins, B. (Barbara), Czene, K. (Kamila), Eriksson, M. (Mikael), Darabi, H. (Hatef), Brand, J.S. (Judith S.), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Nielsen, S.F. (Sune), Rahman, N. (Nazneen), Turnbull, C. (Clare), Fletcher, O. (Olivia), Peto, J. (Julian), Gibson, L.J. (Lorna), Santos Silva, I. (Isabel) dos, Chang-Claude, J. (Jenny), Flesch-Janys, D. (Dieter), Rudolph, A. (Anja), Eilber, U. (Ursula), Behrens, T.W. (Timothy), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Khan, S. (Sofia), Aaltonen, K. (Kirsimari), Ahsan, H. (Habibul), Kibriya, M.G. (Muhammad), Whittemore, A.S. (Alice S.), John, E.M. (Esther M.), Malone, K.E. (Kathleen E.), Gammon, M.D. (Marilie), Santella, R.M. (Regina M.), Ursin, G. (Giske), Makalic, E. (Enes), Schmidt, D.F. (Daniel), Casey, G. (Graham), Hunter, D.J. (David J.), Gapstur, S.M. (Susan M.), Gaudet, M.M. (Mia), Diver, W.R. (Ryan), Haiman, C.A. (Christopher A.), Schumacher, F.R. (Fredrick), Henderson, B.E. (Brian), Le Marchand, L. (Loic), Berg, C.D. (Christine), Chanock, S.J. (Stephen), Figueroa, J.D. (Jonine), Hoover, R.N. (Robert N.), Lambrechts, D. (Diether), Neven, P. (Patrick), Wildiers, H. (Hans), Limbergen, E. (Erik) van, Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Verhoef, S., Cornelissen, S. (Sten), Couch, F.J. (Fergus), Olson, J.E. (Janet), Hallberg, B. (Boubou), Vachon, C. (Celine), Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Adank, M.A. (Muriel), Luijt, R.B. (Rob) van der, Li, J. (Jingmei), Liu, J. (Jianjun), Humphreys, M.K. (Manjeet), Kang, D. (Daehee), Choi, J.-Y. (Ji-Yeob), Park, S.K. (Sue K.), Yoo, K.Y., Matsuo, K. (Keitaro), Ito, H. (Hidemi), Iwata, H. (Hiroji), Tajima, K. (Kazuo), Guénel, P. (Pascal), Truong, T. (Thérèse), Mulot, C. (Claire), Sanchez, M. (Marie), Burwinkel, B. (Barbara), Marme, F. (Federick), Surowy, H. (Harald), Sohn, C. (Christof), Wu, A.H. (Anna H), Tseng, C.-C. (Chiu-chen), Van Den Berg, D. (David), Stram, D.O. (Daniel O.), González-Neira, A. (Anna), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Shu, X.-O. (Xiao-Ou), Lu, W. (Wei), Gao, Y. (Ying), Cai, H. (Hui), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.-M. (Anna-Marie), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Lindblom, A. (Annika), Margolin, S. (Sara), Teo, S.H. (Soo Hwang), Yip, C.H. (Cheng Har), Taib, N.A.M. (Nur Aishah Mohd), Tan, G.-H. (Gie-Hooi), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Martens, J.W.M. (John), Collée, J.M. (Margriet), Blot, W.J. (William), Signorello, L.B. (Lisa B.), Cai, Q. (Qiuyin), Hopper, J. (John), Southey, M.C. (Melissa), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Shen, C-Y. (Chen-Yang), Hsiung, C.-N. (Chia-Ni), Wu, P.-E. (Pei-Ei), Hou, M.-F. (Ming-Feng), Kristensen, V. (Vessela), Nord, S. (Silje), Alnæs, G.G. (Grethe), Giles, G.G. (Graham G.), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Canzian, F. (Federico), Trichopoulos, D. (Dimitrios), Peeters, P.H.M., Lund, E. (Eiliv), Sund, R. (Reijo), Khaw, K.T., Gunter, M.J. (Marc J.), Palli, D. (Domenico), Mortensen, L.M. (Lotte Maxild), Dossus, L. (Laure), Huerta, J.-M. (Jose-Maria), Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Sutter, C. (Christian), Yang, R. (Rongxi), Muir, K. (Kenneth), Lophatananon, A. (Artitaya), Stewart-Brown, S. (Sarah), Siriwanarangsan, P. (Pornthep), Hartman, J.M. (Joost), Miao, X., Chia, K.S. (Kee Seng), Chan, C.W. (Ching Wan), Fasching, P.A. (Peter), Hein, R. (Rebecca), Beckmann, M.W. (Matthias), Haeberle, L. (Lothar), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Ashworth, A. (Alan), Orr, N. (Nick), Schoemaker, M. (Minouk), Swerdlow, A.J. (Anthony ), Brinton, L.A. (Louise), García-Closas, M. (Montserrat), Zheng, W. (Wei), Halverson, S.L. (Sandra L.), Shrubsole, M. (Martha), Long, J. (Jirong), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Brauch, H. (Hiltrud), Hamann, U. (Ute), Brüning, T. (Thomas), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Bernard, L. (Loris), Bogdanova, N.V. (Natalia), Dörk, T. (Thilo), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Huzarski, T. (Tomasz), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Slager, S. (Susan), Toland, A.E. (Amanda), Ambrosone, C.B. (Christine), Yannoukakos, D. (Drakoulis), Kabisch, M. (Maria), Torres, D. (Diana), Neuhausen, S.L. (Susan), Anton-Culver, H. (Hoda), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Healey, S. (Sue), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Álvarez, N. (Nuria), Herrero, D. (Daniel), Simard, J. (Jacques), Pharoah, P.P.D.P. (Paul P.D.P.), Kraft, P. (Peter), Dunning, A.M. (Alison), Chenevix-Trench, G. (Georgia), Hall, P. (Per), Easton, D.F. (Douglas)

المصدر: Nature Genetics vol. 47 no. 4, pp. 373-380

الوصف: Genome-wide association studies (GWAS) and large-scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining ∼14% of the familial risk of the disease. To identify new susceptibility loci, we performed a meta-analysis of 11 GWAS, comprising 15,748 breast cancer cases and 18,084 controls together with 46,785 cases and 42,892 controls from 41 studies genotyped on a 211,155-marker custom array (iCOGS). Analyses were restricted to women of European ancestry. We generated genotypes for more than 11 million SNPs by imputation using the 1000 Genomes Project reference panel, and we identified 15 new loci associated with breast cancer at P < 5 × 10 â '8. Combining association analysis with ChIP-seq chromatin binding data in mammary cell lines and ChIA-PET chromatin interaction data from ENCODE, we identified likely target genes in two regions: SETBP1 at 18q12.3 and RNF115 and PDZK1 at 1q21.1. One association appears to be driven by an amino acid substitution encoded in EXO1.

العلاقة: http://repub.eur.nl/pub/81175Test; urn:hdl:1765/81175

الإتاحة: https://doi.org/10.1038/ng.3242Test
http://repub.eur.nl/pub/81175Test