TY  - JOUR
A1  - Hudson, Lawrence N.
A1  - Newbold, Tim
A1  - Contu, Sara
A1  - Hill, Samantha L. L.
A1  - Lysenko, Igor
A1  - De Palma, Adriana
A1  - Phillips, Helen R. P.
A1  - Senior, Rebecca A.
A1  - Bennett, Dominic J.
A1  - Booth, Hollie
A1  - Choimes, Argyrios
A1  - Correia, David L. P.
A1  - Day, Julie
A1  - Echeverria-Londono, Susy
A1  - Garon, Morgan
A1  - Harrison, Michelle L. K.
A1  - Ingram, Daniel J.
A1  - Jung, Martin
A1  - Kemp, Victoria
A1  - Kirkpatrick, Lucinda
A1  - Martin, Callum D.
A1  - Pan, Yuan
A1  - White, Hannah J.
A1  - Aben, Job
A1  - Abrahamczyk, Stefan
A1  - Adum, Gilbert B.
A1  - Aguilar-Barquero, Virginia
A1  - Aizen, Marcelo
A1  - Ancrenaz, Marc
A1  - Arbelaez-Cortes, Enrique
A1  - Armbrecht, Inge
A1  - Azhar, Badrul
A1  - Azpiroz, Adrian B.
A1  - Baeten, Lander
A1  - Báldi, András
A1  - Banks, John E.
A1  - Barlow, Jos
A1  - Batáry, Péter
A1  - Bates, Adam J.
A1  - Bayne, Erin M.
A1  - Beja, Pedro
A1  - Berg, Ake
A1  - Berry, Nicholas J.
A1  - Bicknell, Jake E.
A1  - Bihn, Jochen H.
A1  - Böhning-Gaese, Katrin
A1  - Boekhout, Teun
A1  - Boutin, Celine
A1  - Bouyer, Jeremy
A1  - Brearley, Francis Q.
A1  - Brito, Isabel
A1  - Brunet, Jörg
A1  - Buczkowski, Grzegorz
A1  - Buscardo, Erika
A1  - Cabra-Garcia, Jimmy
A1  - Calvino-Cancela, Maria
A1  - Cameron, Sydney A.
A1  - Cancello, Eliana M.
A1  - Carrijo, Tiago F.
A1  - Carvalho, Anelena L.
A1  - Castro, Helena
A1  - Castro-Luna, Alejandro A.
A1  - Cerda, Rolando
A1  - Cerezo, Alexis
A1  - Chauvat, Matthieu
A1  - Clarke, Frank M.
A1  - Cleary, Daniel F. R.
A1  - Connop, Stuart P.
A1  - D'Aniello, Biagio
A1  - da Silva, Pedro Giovani
A1  - Darvill, Ben
A1  - Dauber, Jens
A1  - Dejean, Alain
A1  - Diekötter, Tim
A1  - Dominguez-Haydar, Yamileth
A1  - Dormann, Carsten F.
A1  - Dumont, Bertrand
A1  - Dures, Simon G.
A1  - Dynesius, Mats
A1  - Edenius, Lars
A1  - Elek, Zoltán
A1  - Entling, Martin H.
A1  - Farwig, Nina
A1  - Fayle, Tom M.
A1  - Felicioli, Antonio
A1  - Felton, Annika M.
A1  - Ficetola, Gentile F.
A1  - Filgueiras, Bruno K. C.
A1  - Fonte, Steve J.
A1  - Fraser, Lauchlan H.
A1  - Fukuda, Daisuke
A1  - Furlani, Dario
A1  - Ganzhorn, Jörg U.
A1  - Garden, Jenni G.
A1  - Gheler-Costa, Carla
A1  - Giordani, Paolo
A1  - Giordano, Simonetta
A1  - Gottschalk, Marco S.
A1  - Goulson, Dave
A1  - Gove, Aaron D.
A1  - Grogan, James
A1  - Hanley, Mick E.
A1  - Hanson, Thor
A1  - Hashim, Nor R.
A1  - Hawes, Joseph E.
A1  - Hébert, Christian
A1  - Helden, Alvin J.
A1  - Henden, John-André
A1  - Hernández, Lionel
A1  - Herzog, Felix
A1  - Higuera-Diaz, Diego
A1  - Hilje, Branko
A1  - Horgan, Finbarr G.
A1  - Horváth, Roland
A1  - Hylander, Kristoffer
A1  - Horváth, Roland
A1  - Isaacs-Cubides, Paola
A1  - Ishitani, Mashiro
A1  - Jacobs, Carmen T.
A1  - Jaramillo, Victor J.
A1  - Jauker, Birgit
A1  - Jonsell, Matts
A1  - Jung, Thomas S.
A1  - Kapoor, Vena
A1  - Kati, Vassiliki
A1  - Katovai, Eric
A1  - Kessler, Michael
A1  - Knop, Eva
A1  - Kolb, Annette
A1  - Körösi, Àdám
A1  - Lachat, Thibault
A1  - Lantschner, Victoria
A1  - Le Féon, Violette
A1  - LeBuhn, Gretchen
A1  - Légaré, Jean-Philippe
A1  - Letcher, Susan G.
A1  - Littlewood, Nick A.
A1  - López-Quintero, Carlos A.
A1  - Louhaichi, Mounir
A1  - Lövei, Gabor L.
A1  - Lucas-Borja, Manuel Esteban
A1  - Luja, Victor H.
A1  - Maeto, Kaoru
A1  - Magura, Tibor
A1  - Mallari, Neil Aldrin
A1  - Marin-Spiotta, Erika
A1  - Marhall, E. J. P.
A1  - Martínez, Eliana
A1  - Mayfield, Margaret M.
A1  - Mikusinski, Gregorz
A1  - Milder, Jeffery C.
A1  - Miller, James R.
A1  - Morales, Carolina L.
A1  - Muchane, Mary N.
A1  - Muchane, Muchai
A1  - Naidoo, Robin
A1  - Nakamura, Akihiro
A1  - Naoe, Shoji
A1  - Nates-Parra, Guiomar
A1  - Navarerete Gutierrez, Dario A.
A1  - Neuschulz, Eike L.
A1  - Noreika, Norbertas
A1  - Norfolk, Olivia
A1  - Noriega, Jorge Ari
A1  - Nöske, Nicole M.
A1  - O'Dea, Niall
A1  - Oduro, William
A1  - Ofori-Boateng, Caleb
A1  - Oke, Chris O.
A1  - Osgathorpe, Lynne M.
A1  - Paritsis, Juan
A1  - Parrah, Alejandro
A1  - Pelegrin, Nicolás
A1  - Peres, Carlos A.
A1  - Persson, Anna S.
A1  - Petanidou, Theodora
A1  - Phalan, Ben
A1  - Philips, T. Keith
A1  - Poveda, Katja
A1  - Power, Eileen F.
A1  - Presley, Steven J.
A1  - Proença, Vânia
A1  - Quaranta, Marino
A1  - Quintero, Carolina
A1  - Redpath-Downing, Nicola A.
A1  - Reid, J. Leighton
A1  - Reis, Yana T.
A1  - Ribeiro, Danilo B.
A1  - Richardson, Barbara A.
A1  - Richardson, Michael J.
A1  - Robles, Carolina A.
A1  - Römbke, Jörg
A1  - Romero-Duque, Luz Piedad
A1  - Rosselli, Loreta
A1  - Rossiter, Stephen J.
A1  - Roulston, T'ai H.
A1  - Rousseau, Laurent
A1  - Sadler, Jonathan P.
A1  - Sáfián, Szbolcs
A1  - Saldaña-Vásquez, Romeo A.
A1  - Samnegård, Ulrika
A1  - Schüepp, Christof
A1  - Schweiger, Oliver
A1  - Sedlock, Jodi L.
A1  - Shahabuddin, Ghazala
A1  - Sheil, Douglas
A1  - Silva, Fernando A. B.
A1  - Slade, Eleanor
A1  - Smith-Pardo, Allan H.
A1  - Sodhi, Navjot S.
A1  - Somarriba, Eduardo J.
A1  - Sosa, Ramón A.
A1  - Stout, Jane C.
A1  - Struebig, Matthew J.
A1  - Sung, Yik-Hei
A1  - Threlfall, Caragh G.
A1  - Tonietto, Rebecca
A1  - Tóthmérész, Béla
A1  - Tscharntke, Teja
A1  - Turner, Edgar C.
A1  - Tylianakis, Jason M.
A1  - Vanbergen, Adam J.
A1  - Vassilev, Kiril
A1  - Verboven, Hans A. F.
A1  - Vergara, Carlos H.
A1  - Vergara, Pablo M.
A1  - Verhulst, Jort
A1  - Walker, Tony R.
A1  - Wang, Yanping
A1  - Watling, James I.
A1  - Wells, Konstans
A1  - Williams, Christopher D.
A1  - Willig, Michael R.
A1  - Woinarski, John C. Z.
A1  - Wolf, Jan H. D.
A1  - Woodcock, Ben A.
A1  - Yu, Douglas W.
A1  - Zailsev, Andreys
A1  - Collen, Ben
A1  - Ewers, Rob M.
A1  - Mace, Georgina M.
A1  - Purves, Drew W.
A1  - Scharlemann, Jörn P. W.
A1  - Pervis, Andy
T1  - The PREDICTS database: a global database of how local terrestrial biodiversity responds to human impacts
JF  - Ecology and Evolution
N2  - Biodiversity continues to decline in the face of increasing anthropogenic pressures such as habitat destruction, exploitation, pollution and introduction of alien species. Existing global databases of species' threat status or population time series are dominated by charismatic species. The collation of datasets with broad taxonomic and biogeographic extents, and that support computation of a range of biodiversity indicators, is necessary to enable better understanding of historical declines and to project - and avert - future declines. We describe and assess a new database of more than 1.6 million samples from 78 countries representing over 28,000 species, collated from existing spatial comparisons of local-scale biodiversity exposed to different intensities and types of anthropogenic pressures, from terrestrial sites around the world. The database contains measurements taken in 208 (of 814) ecoregions, 13 (of 14) biomes, 25 (of 35) biodiversity hotspots and 16 (of 17) megadiverse countries. The database contains more than 1% of the total number of all species described, and more than 1% of the described species within many taxonomic groups - including flowering plants, gymnosperms, birds, mammals, reptiles, amphibians, beetles, lepidopterans and hymenopterans. The dataset, which is still being added to, is therefore already considerably larger and more representative than those used by previous quantitative models of biodiversity trends and responses. The database is being assembled as part of the PREDICTS project (Projecting Responses of Ecological Diversity In Changing Terrestrial Systems - ). We make site-level summary data available alongside this article. The full database will be publicly available in 2015.
KW  - urban-rural gradient
KW  - instensively managed farmland
KW  - Mexican coffee plantations
KW  - Bombus Spp. Hymenoptera
KW  - bumblebee nest density
KW  - data sharing
KW  - land use
KW  - habitat destruction
KW  - global change
KW  - land-use change
KW  - plant community composition
KW  - Northeastern Costa Rica
KW  - dung beetle coleoptera
KW  - bird species richness
Y1  - 2014
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-114425
VL  - 4
IS  - 24
ER  - 
TY  - JOUR
A1  - Vigorito, Elena
A1  - Kuchenbaecker, Karoline B.
A1  - Beesley, Jonathan
A1  - Adlard, Julian
A1  - Agnarsson, Bjarni A.
A1  - Andrulis, Irene L.
A1  - Arun, Banu K.
A1  - Barjhoux, Laure
A1  - Belotti, Muriel
A1  - Benitez, Javier
A1  - Berger, Andreas
A1  - Bojesen, Anders
A1  - Bonanni, Bernardo
A1  - Brewer, Carole
A1  - Caldes, Trinidad
A1  - Caligo, Maria A.
A1  - Campbell, Ian
A1  - Chan, Salina B.
A1  - Claes, Kathleen B. M.
A1  - Cohn, David E.
A1  - Cook, Jackie
A1  - Daly, Mary B.
A1  - Damiola, Francesca
A1  - Davidson, Rosemarie
A1  - de Pauw, Antoine
A1  - Delnatte, Capucine
A1  - Diez, Orland
A1  - Domchek, Susan M.
A1  - Dumont, Martine
A1  - Durda, Katarzyna
A1  - Dworniczak, Bernd
A1  - Easton, Douglas F.
A1  - Eccles, Diana
A1  - Ardnor, Christina Edwinsdotter
A1  - Eeles, Ros
A1  - Ejlertsen, Bent
A1  - Ellis, Steve
A1  - Evans, D. Gareth
A1  - Feliubadalo, Lidia
A1  - Fostira, Florentia
A1  - Foulkes, William D.
A1  - Friedman, Eitan
A1  - Frost, Debra
A1  - Gaddam, Pragna
A1  - Ganz, Patricia A.
A1  - Garber, Judy
A1  - Garcia-Barberan, Vanesa
A1  - Gauthier-Villars, Marion
A1  - Gehrig, Andrea
A1  - Gerdes, Anne-Marie
A1  - Giraud, Sophie
A1  - Godwin, Andrew K.
A1  - Goldgar, David E.
A1  - Hake, Christopher R.
A1  - Hansen, Thomas V. O.
A1  - Healey, Sue
A1  - Hodgson, Shirley
A1  - Hogervorst, Frans B. L.
A1  - Houdayer, Claude
A1  - Hulick, Peter J.
A1  - Imyanitov, Evgeny N.
A1  - Isaacs, Claudine
A1  - Izatt, Louise
A1  - Izquierdo, Angel
A1  - Jacobs, Lauren
A1  - Jakubowska, Anna
A1  - Janavicius, Ramunas
A1  - Jaworska-Bieniek, Katarzyna
A1  - Jensen, Uffe Birk
A1  - John, Esther M.
A1  - Vijai, Joseph
A1  - Karlan, Beth Y.
A1  - Kast, Karin
A1  - Khan, Sofia
A1  - Kwong, Ava
A1  - Laitman, Yael
A1  - Lester, Jenny
A1  - Lesueur, Fabienne
A1  - Liljegren, Annelie
A1  - Lubinski, Jan
A1  - Mai, Phuong L.
A1  - Manoukian, Siranoush
A1  - Mazoyer, Sylvie
A1  - Meindl, Alfons
A1  - Mensenkamp, Arjen R.
A1  - Montagna, Marco
A1  - Nathanson, Katherine L.
A1  - Neuhausen, Susan L.
A1  - Nevanlinna, Heli
A1  - Niederacher, Dieter
A1  - Olah, Edith
A1  - Olopade, Olufunmilayo I.
A1  - Ong, Kai-ren
A1  - Osorio, Ana
A1  - Park, Sue Kyung
A1  - Paulsson-Karlsson, Ylva
A1  - Pedersen, Inge Sokilde
A1  - Peissel, Bernard
A1  - Peterlongo, Paolo
A1  - Pfeiler, Georg
A1  - Phelan, Catherine M.
A1  - Piedmonte, Marion
A1  - Poppe, Bruce
A1  - Pujana, Miquel Angel
A1  - Radice, Paolo
A1  - Rennert, Gad
A1  - Rodriguez, Gustavo C.
A1  - Rookus, Matti A.
A1  - Ross, Eric A.
A1  - Schmutzler, Rita Katharina
A1  - Simard, Jacques
A1  - Singer, Christian F.
A1  - Slavin, Thomas P.
A1  - Soucy, Penny
A1  - Southey, Melissa
A1  - Steinemann, Doris
A1  - Stoppa-Lyonnet, Dominique
A1  - Sukiennicki, Grzegorz
A1  - Sutter, Christian
A1  - Szabo, Csilla I.
A1  - Tea, Muy-Kheng
A1  - Teixeira, Manuel R.
A1  - Teo, Soo-Hwang
A1  - Terry, Mary Beth
A1  - Thomassen, Mads
A1  - Tibiletti, Maria Grazia
A1  - Tihomirova, Laima
A1  - Tognazzo, Silvia
A1  - van Rensburg, Elizabeth J.
A1  - Varesco, Liliana
A1  - Varon-Mateeva, Raymonda
A1  - Vratimos, Athanassios
A1  - Weitzel, Jeffrey N.
A1  - McGuffog, Lesley
A1  - Kirk, Judy
A1  - Toland, Amanda Ewart
A1  - Hamann, Ute
A1  - Lindor, Noralane
A1  - Ramus, Susan J.
A1  - Greene, Mark H.
A1  - Couch, Fergus J.
A1  - Offit, Kenneth
A1  - Pharoah, Paul D. P.
A1  - Chenevix-Trench, Georgia
A1  - Antoniou, Antonis C.
T1  - Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
JF  - PLoS ONE
N2  - Population-based genome wide association studies have identified a locus at 9p22.2 associated with ovarian cancer risk, which also modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. We conducted fine-scale mapping at 9p22.2 to identify potential causal variants in BRCA1 and BRCA2 mutation carriers. Genotype data were available for 15,252 (2,462 ovarian cancer cases) BRCA1 and 8,211 (631 ovarian cancer cases) BRCA2 mutation carriers. Following genotype imputation, ovarian cancer associations were assessed for 4,873 and 5,020 SNPs in BRCA1 and BRCA 2 mutation carriers respectively, within a retrospective cohort analytical framework. In BRCA1 mutation carriers one set of eight correlated candidate causal variants for ovarian cancer risk modification was identified (top SNP rs10124837, HR: 0.73, 95%CI: 0.68 to 0.79, p-value 2× 10−16). These variants were located up to 20 kb upstream of BNC2. In BRCA2 mutation carriers one region, up to 45 kb upstream of BNC2, and containing 100 correlated SNPs was identified as candidate causal (top SNP rs62543585, HR: 0.69, 95%CI: 0.59 to 0.80, p-value 1.0 × 10−6). The candidate causal in BRCA1 mutation carriers did not include the strongest associated variant at this locus in the general population. In sum, we identified a set of candidate causal variants in a region that encompasses the BNC2 transcription start site. The ovarian cancer association at 9p22.2 may be mediated by different variants in BRCA1 mutation carriers and in the general population. Thus, potentially different mechanisms may underlie ovarian cancer risk for mutation carriers and the general population.
KW  - fine-scale mapping
KW  - ovarian cancer
KW  - genetics
KW  - BRCA1
KW  - BRCA2
Y1  - 2016
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-166869
VL  - 11
IS  - 7
ER  - 
TY  - JOUR
A1  - Couch, Fergus J.
A1  - Wang, Xianshu
A1  - McGuffog, Lesley
A1  - Lee, Andrew
A1  - Olswold, Curtis
A1  - Kuchenbaecker, Karoline B.
A1  - Soucy, Penny
A1  - Fredericksen, Zachary
A1  - Barrowdale, Daniel
A1  - Dennis, Joe
A1  - Gaudet, Mia M.
A1  - Dicks, Ed
A1  - Kosel, Matthew
A1  - Healey, Sue
A1  - Sinilnikova, Olga M.
A1  - Lee, Adam
A1  - Bacot, Françios
A1  - Vincent, Daniel
A1  - Hogervorst, Frans B. L.
A1  - Peock, Susan
A1  - Stoppa-Lyonnet, Dominique
A1  - Jakubowska, Anna
A1  - Radice, Paolo
A1  - Schmutzler, Rita Katharina
A1  - Domchek, Susan M.
A1  - Piedmonte, Marion
A1  - Singer, Christian F.
A1  - Friedman, Eitan
A1  - Thomassen, Mads
A1  - Hansen, Thomas V. O.
A1  - Neuhausen, Susan L.
A1  - Szabo, Csilla I.
A1  - Blanco, Ingnacio
A1  - Greene, Mark H.
A1  - Karlan, Beth Y.
A1  - Garber, Judy
A1  - Phelan, Catherine M.
A1  - Weitzel, Jeffrey N.
A1  - Montagna, Marco
A1  - Olah, Edith
A1  - Andrulis, Irene L.
A1  - Godwin, Andrew K.
A1  - Yannoukakos, Drakoulis
A1  - Goldgar, David E.
A1  - Caldes, Trinidad
A1  - Nevanlinna, Heli
A1  - Osorio, Ana
A1  - Terry, Mary Beth
A1  - Daly, Mary B.
A1  - van Rensburg, Elisabeth J.
A1  - Hamann, Ute
A1  - Ramus, Susan J.
A1  - Toland, Amanda Ewart
A1  - Caligo, Maria A.
A1  - Olopade, Olufunmilayo I.
A1  - Tung, Nadine
A1  - Claes, Kathleen
A1  - Beattie, Mary S.
A1  - Southey, Melissa C.
A1  - Imyanitov, Evgeny N.
A1  - Tischkowitz, Marc
A1  - Janavicius, Ramunas
A1  - John, Esther M.
A1  - Kwong, Ava
A1  - Diez, Orland
A1  - Kwong, Ava
A1  - Balmaña, Judith
A1  - Barkardottir, Rosa B.
A1  - Arun, Banu K.
A1  - Rennert, Gad
A1  - Teo, Soo-Hwang
A1  - Ganz, Patricia A.
A1  - Campbell, Ian
A1  - van der Hout, Annemarie H.
A1  - van Deurzen, Carolien H. M.
A1  - Seynaeve, Caroline
A1  - Garcia, Encarna B. Gómez
A1  - van Leeuwen, Flora E.
A1  - Meijers-Heijboer, Hanne E. J.
A1  - Gille, Johannes J. P.
A1  - Ausems, Magreet G. E. M.
A1  - Blok, Marinus J.
A1  - Ligtenberg, Marjolinjin J. L.
A1  - Rookus, Matti A.
A1  - Devilee, Peter
A1  - Verhoef, Senno
A1  - van Os, Theo A. M.
A1  - Wijnen, Juul T.
A1  - Frost, Debra
A1  - Ellis, Steve
A1  - Fineberg, Elena
A1  - Platte, Radke
A1  - Evans, D. Gareth
A1  - Izatt, Luise
A1  - Eeles, Rosalind A.
A1  - Adlard, Julian
A1  - Eccles, Diana M.
A1  - Cook, Jackie
A1  - Brewer, Carole
A1  - Douglas, Fiona
A1  - Hodgson, Shirley
A1  - Morrison, Patrick J.
A1  - Side, Lucy E.
A1  - Donaldson, Alan
A1  - Houghton, Catherine
A1  - Rogers, Mark T.
A1  - Dorkins, Huw
A1  - Eason, Jacqueline
A1  - Gregory, Helen
A1  - McCann, Emma
A1  - Murray, Alex
A1  - Calender, Alain
A1  - Hardouin, Agnès
A1  - Berthet, Pascaline
A1  - Delnatte, Capucine
A1  - Nogues, Catherine
A1  - Lasset, Christine
A1  - Houdayer, Claude
A1  - Leroux,, Dominique
A1  - Rouleau, Etienne
A1  - Prieur, Fabienne
A1  - Damiola, Francesca
A1  - Sobol, Hagay
A1  - Coupier, Isabelle
A1  - Venat-Bouvet, Laurence
A1  - Castera, Laurent
A1  - Gauthier-Villars, Marion
A1  - Léoné, Mélanie
A1  - Pujol, Pascal
A1  - Mazoyer, Sylvie
A1  - Bignon, Yves-Jean
A1  - Zlowocka-Perlowska, Elzbieta
A1  - Gronwald, Jacek
A1  - Lubinski,, Jan
A1  - Durda, Katarzyna
A1  - Jaworska, Katarzyna
A1  - Huzarski, Tomasz
A1  - Spurdle, Amanda B.
A1  - Viel, Alessandra
A1  - Peissel, Bernhard
A1  - Bonanni, Bernardo
A1  - Melloni, Guilia
A1  - Ottini, Laura
A1  - Papi, Laura
A1  - Varesco, Liliana
A1  - Tibiletti, Maria Grazia
A1  - Peterlongo, Paolo
A1  - Volorio, Sara
A1  - Manoukian, Siranoush
A1  - Pensotti, Valeria
A1  - Arnold, Norbert
A1  - Engel, Christoph
A1  - Deissler, Helmut
A1  - Gadzicki, Dorothea
A1  - Gehrig, Andrea
A1  - Kast, Karin
A1  - Rhiem, Kerstin
A1  - Meindl, Alfons
A1  - Niederacher, Dieter
A1  - Ditsch, Nina
A1  - Plendl, Hansjoerg
A1  - Preisler-Adams, Sabine
A1  - Engert, Stefanie
A1  - Sutter, Christian
A1  - Varon-Mateeva, Raymenda
A1  - Wappenschmidt, Barbara
A1  - Weber, Bernhard H. F.
A1  - Arver, Brita
A1  - Stenmark-Askmalm, Marie
A1  - Loman, Niklas
A1  - Rosenquist, Richard
A1  - Einbeigi, Zakaria
A1  - Nathanson, Katherine L.
A1  - Rebbeck, Timothy R.
A1  - Blank, Stephanie V.
A1  - Cohn, David E.
A1  - Rodriguez, Gustavo C.
A1  - Small, Laurie
A1  - Friedlander, Michael
A1  - Bae-Jump, Victoria L.
A1  - Fink-Retter, Anneliese
A1  - Rappaport, Christine
A1  - Gschwantler-Kaulich, Daphne
A1  - Pfeiler, Georg
A1  - Tea, Muy-Kheng
A1  - Lindor, Noralane M.
A1  - Kaufman, Bella
A1  - Paluch, Shani Shimon
A1  - Laitman, Yael
A1  - Skytte, Anne-Bine
A1  - Gerdes, Anne-Marie
A1  - Pedersen, Inge Sokilde
A1  - Moeller, Sanne Traasdahl
A1  - Kruse, Torben A.
A1  - Jensen, Uffe Birk
A1  - Vijai, Joseph
A1  - Sarrel, Kara
A1  - Robson, Mark
A1  - Kauff, Noah
A1  - Mulligan, Anna Marie
A1  - Glendon, Gord
A1  - Ozcelik, Hilmi
A1  - Ejlertsen, Bent
A1  - Nielsen, Finn C.
A1  - Jønson, Lars
A1  - Andersen, Mette K.
A1  - Ding, Yuan Chun
A1  - Steele, Linda
A1  - Foretova, Lenka
A1  - Teulé, Alex
A1  - Lazaro, Conxi
A1  - Brunet, Joan
A1  - Pujana, Miquel Angel
A1  - Mai, Phuong L.
A1  - Loud, Jennifer T.
A1  - Walsh, Christine
A1  - Lester, Jenny
A1  - Orsulic, Sandra
A1  - Narod, Steven A.
A1  - Herzog, Josef
A1  - Sand, Sharon R.
A1  - Tognazzo, Silvia
A1  - Agata, Simona
A1  - Vaszko, Tibor
A1  - Weaver, Joellen
A1  - Stravropoulou, Alexandra V.
A1  - Buys, Saundra S.
A1  - Romero, Atocha
A1  - de la Hoya, Miguel
A1  - Aittomäki, Kristiina
A1  - Muranen, Taru A.
A1  - Duran, Mercedes
A1  - Chung, Wendy K.
A1  - Lasa, Adriana
A1  - Dorfling, Cecilia M.
A1  - Miron, Alexander
A1  - Benitez, Javier
A1  - Senter, Leigha
A1  - Huo, Dezheng
A1  - Chan, Salina B.
A1  - Sokolenko, Anna P.
A1  - Chiquette, Jocelyne
A1  - Tihomirova, Laima
A1  - Friebel, Tara M.
A1  - Agnarsson, Bjarne A.
A1  - Lu, Karen H.
A1  - Lejbkowicz, Flavio
A1  - James, Paul A.
A1  - Hall, Per
A1  - Dunning, Alison M.
A1  - Tessier, Daniel
A1  - Cunningham, Julie
A1  - Slager, Susan L.
A1  - Chen, Wang
A1  - Hart, Steven
A1  - Stevens, Kristen
A1  - Simard, Jacques
A1  - Pastinen, Tomi
A1  - Pankratz, Vernon S.
A1  - Offit, Kenneth
A1  - Easton, Douglas F.
A1  - Chenevix-Trench, Georgia
A1  - Antoniou, Antonis C.
T1  - Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk
JF  - PLOS Genetics
N2  - BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7 x 10(-8), HR = 1.14, 95% CI: 1.09-1.20). In addition, we identified two novel ovarian cancer risk modifier loci: 17q21.31 (rs17631303, P = 1.4 x 10(-8), HR = 1.27, 95% CI: 1.17-1.38) and 4q32.3 (rs4691139, P = 3.4 x 10(-8), HR = 1.20, 95% CI: 1.17-1.38). The 4q32.3 locus was not associated with ovarian cancer risk in the general population or BRCA2 carriers, suggesting a BRCA1-specific association. The 17q21.31 locus was also associated with ovarian cancer risk in 8,211 BRCA2 carriers (P = 2 x 10(-4)). These loci may lead to an improved understanding of the etiology of breast and ovarian tumors in BRCA1 carriers. Based on the joint distribution of the known BRCA1 breast cancer risk-modifying loci, we estimated that the breast cancer lifetime risks for the 5% of BRCA1 carriers at lowest risk are 28%-50% compared to 81%-100% for the 5% at highest risk. Similarly, based on the known ovarian cancer risk-modifying loci, the 5% of BRCA1 carriers at lowest risk have an estimated lifetime risk of developing ovarian cancer of 28% or lower, whereas the 5% at highest risk will have a risk of 63% or higher. Such differences in risk may have important implications for risk prediction and clinical management for BRCA1 carriers.
KW  - common variants
KW  - susceptibility alleles
KW  - genetic variants
KW  - modifiers
KW  - ZNF365
KW  - investigators
KW  - population
KW  - consortium
KW  - selection
KW  - subtypes
Y1  - 2013
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-127947
SN  - 1553-7404
VL  - 9
IS  - 3
ER  - 
TY  - JOUR
A1  - Reddy, C. E.
A1  - Albanito, L.
A1  - De Marco, P.
A1  - Aiello, D.
A1  - Maggiolini, M.
A1  - Napoli, A.
A1  - Musti, A. M.
T1  - Multisite phosphorylation of c-Jun at threonine 91/93/95 triggers the onset of c-Jun pro-apoptotic activity in cerebellar granule neurons
JF  - Cell Death & Disease
N2  - Cerebellar granule cell (CGC) apoptosis by trophic/potassium (TK) deprivation is a model of election to study the interplay of pro-apoptotic and pro-survival signaling pathways in neuronal cell death. In this model, the c-Jun N-terminal kinase (JNK) induces pro-apoptotic genes through the c-Jun/activator protein 1 (AP-1) transcription factor. On the other side, a survival pathway initiated by lithium leads to repression of pro-apoptotic c-Jun/AP-1 target genes without interfering with JNK activity. Yet, the mechanism by which lithium inhibits c-Jun activity remains to be elucidated. Here, we used this model system to study the regulation and function of site-specific c-Jun phosphorylation at the S63 and T91/T93 JNK sites in neuronal cell death. We found that TK-deprivation led to c-Jun multiphosphorylation at all three JNK sites. However, immunofluorescence analysis of c-Jun phosphorylation at single cell level revealed that the S63 site was phosphorylated in all c-Jun-expressing cells, whereas the response of T91/T93 phosphorylation was more sensitive, mirroring the switch-like apoptotic response of CGCs. Conversely, lithium prevented T91T93 phosphorylation and cell death without affecting the S63 site, suggesting that T91T93 phosphorylation triggers c-Jun pro-apoptotic activity. Accordingly, a c-Jun mutant lacking the T95 priming site for T91/93 phosphorylation protected CGCs from apoptosis, whereas it was able to induce neurite outgrowth in PC12 cells. Vice versa, a c-Jun mutant bearing aspartate substitution of T95 overwhelmed lithium-mediate protection of CGCs from TK-deprivation, validating that inhibition of T91/T93/T95 phosphorylation underlies the effect of lithium on cell death. Mass spectrometry analysis confirmed multiphosphorylation of c-Jun at T91/T93/T95 in cells. Moreover, JNK phosphorylated recombinant c-Jun at T91/T93 in a T95-dependent manner. On the basis of our results, we propose that T91/T93/T95 multiphosphorylation of c-Jun functions as a sensitivity amplifier of the JNK cascade, setting the threshold for c-Jun pro-apoptotic activity in neuronal cells.
KW  - c-Jun
KW  - JNK
KW  - cell death
KW  - neurons
KW  - trophic/potassium deprivation
KW  - lithium
Y1  - 2013
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-128793
VL  - 4
IS  - e852
ER  - 
TY  - JOUR
A1  - Ferreira, Manuel A.
A1  - Gamazon, Eric R.
A1  - Al-Ejeh, Fares
A1  - Aittomäki, Kristiina
A1  - Andrulis, Irene L.
A1  - Anton-Culver, Hoda
A1  - Arason, Adalgeir
A1  - Arndt, Volker
A1  - Aronson, Kristan J.
A1  - Arun, Banu K.
A1  - Asseryanis, Ella
A1  - Azzollini, Jacopo
A1  - Balmaña, Judith
A1  - Barnes, Daniel R.
A1  - Barrowdale, Daniel
A1  - Beckmann, Matthias W.
A1  - Behrens, Sabine
A1  - Benitez, Javier
A1  - Bermisheva, Marina
A1  - Bialkowska, Katarzyna
A1  - Blomqvist, Carl
A1  - Bogdanova, Natalia V.
A1  - Bojesen, Stig E.
A1  - Bolla, Manjeet K.
A1  - Borg, Ake
A1  - Brauch, Hiltrud
A1  - Brenner, Hermann
A1  - Broeks, Annegien
A1  - Burwinkel, Barbara
A1  - Caldés, Trinidad
A1  - Caligo, Maria A.
A1  - Campa, Daniele
A1  - Campbell, Ian
A1  - Canzian, Federico
A1  - Carter, Jonathan
A1  - Carter, Brian D.
A1  - Castelao, Jose E.
A1  - Chang-Claude, Jenny
A1  - Chanock, Stephen J.
A1  - Christiansen, Hans
A1  - Chung, Wendy K.
A1  - Claes, Kathleen B. M.
A1  - Clarke, Christine L.
A1  - Couch, Fergus J.
A1  - Cox, Angela
A1  - Cross, Simon S.
A1  - Czene, Kamila
A1  - Daly, Mary B.
A1  - de la Hoya, Miguel
A1  - Dennis, Joe
A1  - Devilee, Peter
A1  - Diez, Orland
A1  - Dörk, Thilo
A1  - Dunning, Alison M.
A1  - Dwek, Miriam
A1  - Eccles, Diana M.
A1  - Ejlertsen, Bent
A1  - Ellberg, Carolina
A1  - Engel, Christoph
A1  - Eriksson, Mikael
A1  - Fasching, Peter A.
A1  - Fletcher, Olivia
A1  - Flyger, Henrik
A1  - Friedman, Eitan
A1  - Frost, Debra
A1  - Gabrielson, Marike
A1  - Gago-Dominguez, Manuela
A1  - Ganz, Patricia A.
A1  - Gapstur, Susan M.
A1  - Garber, Judy
A1  - García-Closas, Montserrat
A1  - García-Sáenz, José A.
A1  - Gaudet, Mia M.
A1  - Giles, Graham G.
A1  - Glendon, Gord
A1  - Godwin, Andrew K.
A1  - Goldberg, Mark S.
A1  - Goldgar, David E.
A1  - González-Neira, Anna
A1  - Greene, Mark H.
A1  - Gronwald, Jacek
A1  - Guenél, Pascal
A1  - Haimann, Christopher A.
A1  - Hall, Per
A1  - Hamann, Ute
A1  - He, Wei
A1  - Heyworth, Jane
A1  - Hogervorst, Frans B. L.
A1  - Hollestelle, Antoinette
A1  - Hoover, Robert N.
A1  - Hopper, John L.
A1  - Hulick, Peter J.
A1  - Humphreys, Keith
A1  - Imyanitov, Evgeny N.
A1  - Isaacs, Claudine
A1  - Jakimovska, Milena
A1  - Jakubowska, Anna
A1  - James, Paul A.
A1  - Janavicius, Ramunas
A1  - Jankowitz, Rachel C.
A1  - John, Esther M.
A1  - Johnson, Nichola
A1  - Joseph, Vijai
A1  - Karlan, Beth Y.
A1  - Khusnutdinova, Elza
A1  - Kiiski, Johanna I.
A1  - Ko, Yon-Dschun
A1  - Jones, Michael E.
A1  - Konstantopoulou, Irene
A1  - Kristensen, Vessela N.
A1  - Laitman, Yael
A1  - Lambrechts, Diether
A1  - Lazaro, Conxi
A1  - Leslie, Goska
A1  - Lester, Jenny
A1  - Lesueur, Fabienne
A1  - Lindström, Sara
A1  - Long, Jirong
A1  - Loud, Jennifer T.
A1  - Lubiński, Jan
A1  - Makalic, Enes
A1  - Mannermaa, Arto
A1  - Manoochehri, Mehdi
A1  - Margolin, Sara
A1  - Maurer, Tabea
A1  - Mavroudis, Dimitrios
A1  - McGuffog, Lesley
A1  - Meindl, Alfons
A1  - Menon, Usha
A1  - Michailidou, Kyriaki
A1  - Miller, Austin
A1  - Montagna, Marco
A1  - Moreno, Fernando
A1  - Moserle, Lidia
A1  - Mulligan, Anna Marie
A1  - Nathanson, Katherine L.
A1  - Neuhausen, Susan L.
A1  - Nevanlinna, Heli
A1  - Nevelsteen, Ines
A1  - Nielsen, Finn C.
A1  - Nikitina-Zake, Liene
A1  - Nussbaum, Robert L.
A1  - Offit, Kenneth
A1  - Olah, Edith
A1  - Olopade, Olufunmilayo I.
A1  - Olsson, Håkan
A1  - Osorio, Ana
A1  - Papp, Janos
A1  - Park-Simon, Tjoung-Won
A1  - Parsons, Michael T.
A1  - Pedersen, Inge Sokilde
A1  - Peixoto, Ana
A1  - Peterlongo, Paolo
A1  - Pharaoh, Paul D. P.
A1  - Plaseska-Karanfilska, Dijana
A1  - Poppe, Bruce
A1  - Presneau, Nadege
A1  - Radice, Paolo
A1  - Rantala, Johanna
A1  - Rennert, Gad
A1  - Risch, Harvey A.
A1  - Saloustros, Emmanouil
A1  - Sanden, Kristin
A1  - Sawyer, Elinor J.
A1  - Schmidt, Marjanka K.
A1  - Schmutzler, Rita K.
A1  - Sharma, Priyanka
A1  - Shu, Xiao-Ou
A1  - Simard, Jaques
A1  - Singer, Christian F.
A1  - Soucy, Penny
A1  - Southey, Melissa C.
A1  - Spinelli, John J.
A1  - Spurdle, Amanda B.
A1  - Stone, Jennifer
A1  - Swerdlow, Anthony J.
A1  - Tapper, William J.
A1  - Taylor, Jack A.
A1  - Teixeira, Manuel R.
A1  - Terry, Mary Beth
A1  - Teulé, Alex
A1  - Thomassen, Mads
A1  - Thöne, Kathrin
A1  - Thull, Darcy L.
A1  - Tischkowitz, Marc
A1  - Toland, Amanda E.
A1  - Torres, Diana
A1  - Truong, Thérèse
A1  - Tung, Nadine
A1  - Vachon, Celine M.
A1  - van Asperen, Christi J.
A1  - van den Ouweland, Ans M. W.
A1  - van Rensburg, Elizabeth J.
A1  - Vega, Ana
A1  - Viel, Alexandra
A1  - Wang, Qin
A1  - Wappenschmidt, Barbara
A1  - Weitzel, Jeffrey N.
A1  - Wendt, Camilla
A1  - Winqvist, Robert
A1  - Yang, Xiaohong R.
A1  - Yannoukakos, Drakoulis
A1  - Ziogas, Argyrios
A1  - Kraft, Peter
A1  - Antoniou, Antonis C.
A1  - Zheng, Wei
A1  - Easton, Douglas F.
A1  - Milne, Roger L.
A1  - Beesley, Jonathan
A1  - Chenevix-Trench, Georgia
T1  - Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
JF  - Nature Communications
N2  - Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue and immune cells from blood and spleen. Using expression quantitative trait loci (eQTL) reported in these tissues, we identify 26 previously unreported, likely target genes of overall breast cancer risk variants, and 17 for estrogen receptor (ER)-negative breast cancer, several with a known immune function. We determine the directional effect of gene expression on disease risk measured based on single and multiple eQTL. In addition, using a gene-based test of association that considers eQTL from multiple tissues, we identify seven (and four) regions with variants associated with overall (and ER-negative) breast cancer risk, which were not reported in previous GWAS. Further investigation of the function of the implicated genes in breast and immune cells may provide insights into the etiology of breast cancer.
KW  - cancer
KW  - genetics
Y1  - 2019
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-228024
VL  - 10
ER  -