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

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Authors
Fachal, Laura
Aschard, Hugues
Beesley, Jonathan
Barnes, Daniel R
Allen, Jamie
Kar, Siddhartha
Pooley, Karen A
Dennis, Joe
Michailidou, Kyriaki
Turman, Constance
Soucy, Penny
Lemaçon, Audrey
Lush, Michael
Tyrer, Jonathan P
Ghoussaini, Maya
Moradi Marjaneh, Mahdi
Jiang, Xia
Agata, Simona
Aittomäki, Kristiina
Alonso, M Rosario
Andrulis, Irene L
Anton-Culver, Hoda
Antonenkova, Natalia N
Arason, Adalgeir
Arndt, Volker
Aronson, Kristan J
Arun, Banu K
Auber, Bernd
Auer, Paul L
Azzollini, Jacopo
Balmaña, Judith
Barkardottir, Rosa B
Barrowdale, Daniel
Beeghly-Fadiel, Alicia
Benitez, Javier
Bermisheva, Marina
Białkowska, Katarzyna
Blanco, Amie M
Blomqvist, Carl
Blot, William
Bogdanova, Natalia V
Bojesen, Stig E
Bolla, Manjeet K
Bonanni, Bernardo
Borg, Ake
Bosse, Kristin
Brauch, Hiltrud
Brenner, Hermann
Briceno, Ignacio
Brock, Ian W
Brooks-Wilson, Angela
Brüning, Thomas
Burwinkel, Barbara
Buys, Saundra S
Cai, Qiuyin
Caldés, Trinidad
Caligo, Maria A
Camp, Nicola J
Campbell, Ian
Canzian, Federico
Carroll, Jason S
Carter, Brian D
Castelao, Jose E
Chiquette, Jocelyne
Christiansen, Hans
Chung, Wendy K
Claes, Kathleen B M
Clarke, Christine L
Collée, J Margriet
Cornelissen, Sten
Couch, Fergus J
Cox, Angela
Cross, Simon S
Cybulski, Cezary
Czene, Kamila
Daly, Mary B
de la Hoya, Miguel
Devilee, Peter
Diez, Orland
Ding, Yuan Chun
Dite, Gillian S
Domchek, Susan M
Dörk, Thilo
Dos-Santos-Silva, Isabel
Droit, Arnaud
Dubois, Stéphane
Dumont, Martine
Duran, Mercedes
Durcan, Lorraine
Dwek, Miriam
Eccles, Diana M
Engel, Christoph
Eriksson, Mikael
Evans, D Gareth
Fasching, Peter A
Fletcher, Olivia
Floris, Giuseppe
Flyger, Henrik
Foretova, Lenka
Foulkes, William D
Friedman, Eitan
Fritschi, Lin
Frost, Debra
Gabrielson, Marike
Gago-Dominguez, Manuela
Gambino, Gaetana
Ganz, Patricia A
Gapstur, Susan M
Garber, Judy
García-Sáenz, José A
Gaudet, Mia M
Georgoulias, Vassilios
Giles, Graham G
Glendon, Gord
Godwin, Andrew K
Goldberg, Mark S
Goldgar, David E
González-Neira, Anna
Tibiletti, Maria Grazia
Greene, Mark H
Grip, Mervi
Gronwald, Jacek
Grundy, Anne
Guénel, Pascal
Hahnen, Eric
Haiman, Christopher A
Håkansson, Niclas
Hall, Per
Hamann, Ute
Harrington, Patricia A
Hartikainen, Jaana M
Hartman, Mikael
He, Wei
Healey, Catherine S
Heemskerk-Gerritsen, Bernadette A M
Heyworth, Jane
Hillemanns, Peter
Hogervorst, Frans B L
Hollestelle, Antoinette
Hooning, Maartje J
Hopper, John L
Howell, Anthony
Huang, Guanmengqian
Hulick, Peter J
Imyanitov, Evgeny N
Isaacs, Claudine
Iwasaki, Motoki
Jager, Agnes
Jakimovska, Milena
Jakubowska, Anna
James, Paul A
Janavicius, Ramunas
Jankowitz, Rachel C
John, Esther M
Johnson, Nichola
Jones, Michael E
Jukkola-Vuorinen, Arja
Jung, Audrey
Kaaks, Rudolf
Kang, Daehee
Kapoor, Pooja Middha
Karlan, Beth Y
Keeman, Renske
Kerin, Michael J
Khusnutdinova, Elza
Kiiski, Johanna I
Kirk, Judy
Kitahara, Cari M
Ko, Yon-Dschun
Konstantopoulou, Irene
Kosma, Veli-Matti
Koutros, Stella
Kubelka-Sabit, Katerina
Kwong, Ava
Kyriacou, Kyriacos
Laitman, Yael
Lambrechts, Diether
Lee, Eunjung
Leslie, Goska
Lester, Jenny
Lesueur, Fabienne
Lindblom, Annika
Lo, Wing-Yee
Long, Jirong
Lophatananon, Artitaya
Loud, Jennifer T
Lubiński, Jan
MacInnis, Robert J
Maishman, Tom
Makalic, Enes
Mannermaa, Arto
Manoochehri, Mehdi
Manoukian, Siranoush
Margolin, Sara
Martinez, Maria Elena
Matsuo, Keitaro
Maurer, Tabea
Mavroudis, Dimitrios
Mayes, Rebecca
McGuffog, Lesley
McLean, Catriona
Mebirouk, Noura
Meindl, Alfons
Miller, Austin
Miller, Nicola
Montagna, Marco
Moreno, Fernando
Muir, Kenneth
Mulligan, Anna Marie
Muñoz-Garzon, Victor M
Muranen, Taru A
Narod, Steven A
Nassir, Rami
Nathanson, Katherine L
Neuhausen, Susan L
Nevanlinna, Heli
Neven, Patrick
Nielsen, Finn C
Nikitina-Zake, Liene
Norman, Aaron
Offit, Kenneth
Olah, Edith
Olopade, Olufunmilayo I
Olsson, Håkan
Orr, Nick
Osorio, Ana
Pankratz, V Shane
Papp, Janos
Park, Sue K
Park-Simon, Tjoung-Won
Parsons, Michael T
Paul, James
Pedersen, Inge Sokilde
Peissel, Bernard
Peshkin, Beth
Peterlongo, Paolo
Peto, Julian
Plaseska-Karanfilska, Dijana
Prajzendanc, Karolina
Prentice, Ross
Presneau, Nadege
Prokofyeva, Darya
Pujana, Miquel Angel
Pylkäs, Katri
Radice, Paolo
Ramus, Susan J
Rantala, Johanna
Rau-Murthy, Rohini
Rennert, Gad
Risch, Harvey A
Robson, Mark
Romero, Atocha
Rossing, Maria
Saloustros, Emmanouil
Sánchez-Herrero, Estela
Sandler, Dale P
Santamariña, Marta
Saunders, Christobel
Sawyer, Elinor J
Scheuner, Maren T
Schmidt, Daniel F
Schmutzler, Rita K
Schneeweiss, Andreas
Schoemaker, Minouk J
Schöttker, Ben
Schürmann, Peter
Scott, Christopher
Scott, Rodney J
Senter, Leigha
Seynaeve, Caroline M
Shah, Mitul
Sharma, Priyanka
Shen, Chen-Yang
Shu, Xiao-Ou
Singer, Christian F
Slavin, Thomas P
Smichkoska, Snezhana
Southey, Melissa C
Spinelli, John J
Spurdle, Amanda B
Stone, Jennifer
Stoppa-Lyonnet, Dominique
Sutter, Christian
Swerdlow, Anthony J
Tamimi, Rulla M
Tan, Yen Yen
Tapper, William J
Taylor, Jack A
Teixeira, Manuel R
Tengström, Maria
Teo, Soo Hwang
Terry, Mary Beth
Teulé, Alex
Thomassen, Mads
Thull, Darcy L
Tischkowitz, Marc
Toland, Amanda E
Tollenaar, Rob A E M
Tomlinson, Ian
Torres, Diana
Torres-Mejía, Gabriela
Troester, Melissa A
Truong, Thérèse
Tung, Nadine
Tzardi, Maria
Ulmer, Hans-Ulrich
Vachon, Celine M
van Asperen, Christi J
van der Kolk, Lizet E
van Rensburg, Elizabeth J
Vega, Ana
Viel, Alessandra
Vijai, Joseph
Vogel, Maartje J
Wang, Qin
Wappenschmidt, Barbara
Weinberg, Clarice R
Weitzel, Jeffrey N
Wendt, Camilla
Wildiers, Hans
Winqvist, Robert
Wolk, Alicja
Wu, Anna H
Yannoukakos, Drakoulis
Zhang, Yan
Zheng, Wei
Hunter, David
Pharoah, Paul D P
Chang-Claude, Jenny
García-Closas, Montserrat
Schmidt, Marjanka K
Milne, Roger L
Kristensen, Vessela N
French, Juliet D
Edwards, Stacey L
Antoniou, Antonis C
Chenevix-Trench, Georgia
Simard, Jacques
Easton, Douglas F
Kraft, Peter
Dunning, Alison M
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Issue Date
2020-01-07

Metadata
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Citation
Fachal L, Aschard H, Beesley J, et al. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes. Nat Genet. 2020;52(1):56-73. doi:10.1038/s41588-019-0537-1
Abstract
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.
Description
To access publisher's full text version of this article click on the hyperlink below
Additional Links
https://www.nature.com/articles/s41588-019-0537-1
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6974400/
ae974a485f413a2113503eed53cd6c53
10.1038/s41588-019-0537-1
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