| Literature DB >> 32115800 |
Helian Feng1,2,3, Alexander Gusev4, Bogdan Pasaniuc5, Lang Wu6, Jirong Long7, Zomoroda Abu-Full8, Kristiina Aittomäki9, Irene L Andrulis10,11, Hoda Anton-Culver12, Antonis C Antoniou13, Adalgeir Arason14,15, Volker Arndt16, Kristan J Aronson17, Banu K Arun18, Ella Asseryanis19, Paul L Auer20,21, Jacopo Azzollini22, Judith Balmaña23, Rosa B Barkardottir14,15, Daniel R Barnes13, Daniel Barrowdale13, Matthias W Beckmann24, Sabine Behrens25, Javier Benitez26,27, Marina Bermisheva28, Katarzyna Białkowska29, Ana Blanco26,30,31, Carl Blomqvist32,33, Bram Boeckx34,35, Natalia V Bogdanova36,37,38, Stig E Bojesen39,40,41, Manjeet K Bolla13, Bernardo Bonanni42, Ake Borg43, Hiltrud Brauch44,45,46, Hermann Brenner16,46,47, Ignacio Briceno48,49, Annegien Broeks50, Thomas Brüning51, Barbara Burwinkel52,53, Qiuyin Cai7, Trinidad Caldés54, Maria A Caligo55, Ian Campbell56,57, Sander Canisius50,58, Daniele Campa59, Brian D Carter60, Jonathan Carter61, Jose E Castelao62, Jenny Chang-Claude25,63, Stephen J Chanock64, Hans Christiansen36, Wendy K Chung65, Kathleen B M Claes66, Christine L Clarke67, Fergus J Couch68, Angela Cox69, Simon S Cross70, Cezary Cybulski29, Kamila Czene71, Mary B Daly72, Miguel de la Hoya54, Kim De Leeneer66, Joe Dennis13, Peter Devilee73,74, Orland Diez75,76, Susan M Domchek77, Thilo Dörk37, Isabel Dos-Santos-Silva78, Alison M Dunning79, Miriam Dwek80, Diana M Eccles81, Bent Ejlertsen82, Carolina Ellberg83, Christoph Engel84,85, Mikael Eriksson71, Peter A Fasching24,86, Olivia Fletcher87, Henrik Flyger88, Florentia Fostira89, Eitan Friedman90,91, Lin Fritschi92, Debra Frost13, Marike Gabrielson71, Patricia A Ganz93, Susan M Gapstur60, Judy Garber94, Montserrat García-Closas64,95,96, José A García-Sáenz54, Mia M Gaudet60, Graham G Giles97,98, Gord Glendon10, Andrew K Godwin99, Mark S Goldberg100,101, David E Goldgar102, Anna González-Neira27, Mark H Greene103, Jacek Gronwald29, Pascal Guénel104, Christopher A Haiman105, Per Hall71,106, Ute Hamann107, Christopher Hake108, Wei He71, Jane Heyworth109, Frans B L Hogervorst110, Antoinette Hollestelle111, Maartje J Hooning111, Robert N Hoover64, John L Hopper97, Guanmengqian Huang107, Peter J Hulick112,113, Keith Humphreys71, Evgeny N Imyanitov114, Claudine Isaacs115, Milena Jakimovska116, Anna Jakubowska29,117, Paul James57,118, Ramunas Janavicius119, Rachel C Jankowitz120, Esther M John121, Nichola Johnson87, Vijai Joseph122, Audrey Jung25, Beth Y Karlan123, Elza Khusnutdinova28,124, Johanna I Kiiski125, Irene Konstantopoulou89, Vessela N Kristensen126,127, Yael Laitman90, Diether Lambrechts34,35, Conxi Lazaro128, Dominique Leroux129, Goska Leslie13, Jenny Lester123, Fabienne Lesueur130,131,132, Noralane Lindor133, Sara Lindström134,135, Wing-Yee Lo44,45, Jennifer T Loud103, Jan Lubiński29, Enes Makalic97, Arto Mannermaa136,137,138, Mehdi Manoochehri107, Siranoush Manoukian22, Sara Margolin106,139, John W M Martens111, Maria E Martinez140,141, Laura Matricardi142, Tabea Maurer63, Dimitrios Mavroudis143, Lesley McGuffog13, Alfons Meindl144, Usha Menon145, Kyriaki Michailidou13,146, Pooja M Kapoor25,147, Austin Miller148, Marco Montagna142, Fernando Moreno54, Lidia Moserle142, Anna M Mulligan149,150, Taru A Muranen125, Katherine L Nathanson77, Susan L Neuhausen151, Heli Nevanlinna125, Ines Nevelsteen152, Finn C Nielsen153, Liene Nikitina-Zake154, Kenneth Offit122,155, Edith Olah156, Olufunmilayo I Olopade157, Håkan Olsson83, Ana Osorio26,27, Janos Papp156, Tjoung-Won Park-Simon37, Michael T Parsons158, Inge S Pedersen159, Ana Peixoto160, Paolo Peterlongo161, Julian Peto78, Paul D P Pharoah13,79, Kelly-Anne Phillips56,57,97,162, Dijana Plaseska-Karanfilska116, Bruce Poppe66, Nisha Pradhan122, Karolina Prajzendanc29, Nadege Presneau80, Kevin Punie152, Katri Pylkäs163,164, Paolo Radice165, Johanna Rantala166, Muhammad Usman Rashid107,167, Gad Rennert8, Harvey A Risch168, Mark Robson155, Atocha Romero169, Emmanouil Saloustros170, Dale P Sandler171, Catarina Santos160, Elinor J Sawyer172, Marjanka K Schmidt50,173, Daniel F Schmidt97,174, Rita K Schmutzler175,176, Minouk J Schoemaker95, Rodney J Scott177,178,179, Priyanka Sharma180, Xiao-Ou Shu7, Jacques Simard181, Christian F Singer19, Anne-Bine Skytte182, Penny Soucy181, Melissa C Southey183,184, John J Spinelli185,186, Amanda B Spurdle158, Jennifer Stone97,187, Anthony J Swerdlow95,188, William J Tapper189, Jack A Taylor171,190, Manuel R Teixeira160,191, Mary Beth Terry192, Alex Teulé193, Mads Thomassen194, Kathrin Thöne63, Darcy L Thull195, Marc Tischkowitz196,197, Amanda E Toland198, Rob A E M Tollenaar199, Diana Torres48,107, Thérèse Truong104, Nadine Tung200, Celine M Vachon201, Christi J van Asperen202, Ans M W van den Ouweland203, Elizabeth J van Rensburg204, Ana Vega26,30,31, Alessandra Viel205, Paula Vieiro-Balo206, Qin Wang13, Barbara Wappenschmidt175,176, Clarice R Weinberg207, Jeffrey N Weitzel208, Camilla Wendt139, Robert Winqvist163,164, Xiaohong R Yang64, Drakoulis Yannoukakos89, Argyrios Ziogas12, Roger L Milne96,97,183, Douglas F Easton13,79, Georgia Chenevix-Trench158, Wei Zheng7, Peter Kraft1,2, Xia Jiang1,2.
Abstract
Previous transcriptome-wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expression quantitative loci and genome-wide association studies (GWAS), but analyses of breast cancer subtype-specific associations have been limited. In this study, we conducted a TWAS using gene expression data from GTEx and summary statistics from the hitherto largest GWAS meta-analysis conducted for breast cancer overall, and by estrogen receptor subtypes (ER+ and ER-). We further compared associations with ER+ and ER- subtypes, using a case-only TWAS approach. We also conducted multigene conditional analyses in regions with multiple TWAS associations. Two genes, STXBP4 and HIST2H2BA, were specifically associated with ER+ but not with ER- breast cancer. We further identified 30 TWAS-significant genes associated with overall breast cancer risk, including four that were not identified in previous studies. Conditional analyses identified single independent breast-cancer gene in three of six regions harboring multiple TWAS-significant genes. Our study provides new information on breast cancer genetics and biology, particularly about genomic differences between ER+ and ER- breast cancer.Entities:
Keywords: GWAS; TWAS; breast cancer subtype; causal gene
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Substances：
Year: 2020 PMID： 32115800 PMCID： PMC7987299 DOI： 10.1002/gepi.22288
Source DB: PubMed Journal: Genet Epidemiol ISSN： 0741-0395 Impact factor: 2.344