| Literature DB >> 26928228 |
Alison M Dunning1, Kyriaki Michailidou2, Karoline B Kuchenbaecker2, Deborah Thompson2, Juliet D French3, Jonathan Beesley3, Catherine S Healey1, Siddhartha Kar1, Karen A Pooley2, Elena Lopez-Knowles4,5, Ed Dicks1, Daniel Barrowdale2, Nicholas A Sinnott-Armstrong6, Richard C Sallari7, Kristine M Hillman3, Susanne Kaufmann3, Haran Sivakumaran3, Mahdi Moradi Marjaneh3, Jason S Lee3, Margaret Hills5, Monika Jarosz4,5, Suzie Drury4,5, Sander Canisius8, Manjeet K Bolla2, Joe Dennis2, Qin Wang2, John L Hopper9, Melissa C Southey10, Annegien Broeks8, Marjanka K Schmidt8, Artitaya Lophatananon11, Kenneth Muir11,12, Matthias W Beckmann13, Peter A Fasching13,14, Isabel Dos-Santos-Silva15, Julian Peto15, Elinor J Sawyer16, Ian Tomlinson17,18, Barbara Burwinkel19,20, Frederik Marme21,22, Pascal Guénel23,24, Thérèse Truong23,24, Stig E Bojesen25,26,27, Henrik Flyger28, Anna González-Neira29, Jose I A Perez30, Hoda Anton-Culver31, Lee Eunjung32, Volker Arndt33, Hermann Brenner33,34, Alfons Meindl35, Rita K Schmutzler36,37,38, Hiltrud Brauch34,39,40, Ute Hamann41, Kristiina Aittomäki42, Carl Blomqvist43, Hidemi Ito44, Keitaro Matsuo45, Natasha Bogdanova46, Thilo Dörk47, Annika Lindblom48, Sara Margolin49, Veli-Matti Kosma50,51,52, Arto Mannermaa50,51,52, Chiu-Chen Tseng32, Anna H Wu32, Diether Lambrechts53,54, Hans Wildiers55, Jenny Chang-Claude56,57, Anja Rudolph56, Paolo Peterlongo58, Paolo Radice59, Janet E Olson60, Graham G Giles9,61, Roger L Milne9,61, Christopher A Haiman32, Brian E Henderson32, Mark S Goldberg62,63, Soo H Teo64,65, Cheng Har Yip65, Silje Nord66, Anne-Lise Borresen-Dale66,67, Vessela Kristensen66,67,68, Jirong Long69, Wei Zheng69, Katri Pylkäs70,71, Robert Winqvist70,71, Irene L Andrulis72,73, Julia A Knight74,75, Peter Devilee76,77, Caroline Seynaeve78, Jonine Figueroa79, Mark E Sherman79, Kamila Czene80, Hatef Darabi80, Antoinette Hollestelle78, Ans M W van den Ouweland81, Keith Humphreys80, Yu-Tang Gao82, Xiao-Ou Shu69, Angela Cox83, Simon S Cross84, William Blot69,85, Qiuyin Cai69, Maya Ghoussaini1, Barbara J Perkins1, Mitul Shah1, Ji-Yeob Choi86,87, Daehee Kang86,87,88, Soo Chin Lee89,90, Mikael Hartman91,92, Maria Kabisch41, Diana Torres41,93, Anna Jakubowska94, Jan Lubinski94, Paul Brennan95, Suleeporn Sangrajrang96, Christine B Ambrosone97, Amanda E Toland98, Chen-Yang Shen99,100, Pei-Ei Wu100, Nick Orr101, Anthony Swerdlow102,103, Lesley McGuffog2, Sue Healey3, Andrew Lee2, Miroslav Kapuscinski104, Esther M John105, Mary Beth Terry106, Mary B Daly107, David E Goldgar108, Saundra S Buys109, Ramunas Janavicius110, Laima Tihomirova111, Nadine Tung112, Cecilia M Dorfling113, Elizabeth J van Rensburg113, Susan L Neuhausen114, Bent Ejlertsen115, Thomas V O Hansen116, Ana Osorio117,118, Javier Benitez117,118,119, Rachel Rando120, Jeffrey N Weitzel121, Bernardo Bonanni122, Bernard Peissel123, Siranoush Manoukian123, Laura Papi124, Laura Ottini125, Irene Konstantopoulou126, Paraskevi Apostolou126, Judy Garber127, Muhammad Usman Rashid41,128, Debra Frost2, Louise Izatt129, Steve Ellis2, Andrew K Godwin130, Norbert Arnold131, Dieter Niederacher132, Kerstin Rhiem133, Nadja Bogdanova-Markov134, Charlotte Sagne135, Dominique Stoppa-Lyonnet136,137, Francesca Damiola135, Olga M Sinilnikova135,138, Sylvie Mazoyer135, Claudine Isaacs139, Kathleen B M Claes140, Kim De Leeneer140, Miguel de la Hoya141, Trinidad Caldes141, Heli Nevanlinna142, Sofia Khan142, Arjen R Mensenkamp143, Maartje J Hooning144, Matti A Rookus145, Ava Kwong146,147, Edith Olah148, Orland Diez149, Joan Brunet150, Miquel Angel Pujana151, Jacek Gronwald94, Tomasz Huzarski94, Rosa B Barkardottir152, Rachel Laframboise153, Penny Soucy154, Marco Montagna155, Simona Agata155, Manuel R Teixeira156,157, Sue Kyung Park86,87,88, Noralane Lindor60, Fergus J Couch60,158, Marc Tischkowitz159, Lenka Foretova160, Joseph Vijai161, Kenneth Offit161, Christian F Singer162, Christine Rappaport162, Catherine M Phelan163, Mark H Greene164, Phuong L Mai164, Gad Rennert165,166, Evgeny N Imyanitov167, Peter J Hulick168, Kelly-Anne Phillips169, Marion Piedmonte170, Anna Marie Mulligan171,172, Gord Glendon72, Anders Bojesen173, Mads Thomassen174, Maria A Caligo175, Sook-Yee Yoon64,176, Eitan Friedman177, Yael Laitman177, Ake Borg178, Anna von Wachenfeldt49, Hans Ehrencrona179,180, Johanna Rantala181, Olufunmilayo I Olopade182, Patricia A Ganz183, Robert L Nussbaum184, Simon A Gayther32, Katherine L Nathanson185, Susan M Domchek185, Banu K Arun186, Gillian Mitchell187,188, Beth Y Karlan189, Jenny Lester189, Gertraud Maskarinec190, Christy Woolcott191, Christopher Scott60, Jennifer Stone192, Carmel Apicella9, Rulla Tamimi193,194,195, Robert Luben196, Kay-Tee Khaw196, Åslaug Helland66, Vilde Haakensen66, Mitch Dowsett4,5, Paul D P Pharoah1,2, Jacques Simard154, Per Hall80, Montserrat García-Closas101,102, Celine Vachon60, Georgia Chenevix-Trench3, Antonis C Antoniou2, Douglas F Easton1,2, Stacey L Edwards3.
Abstract
We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor α) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, each associated with different phenotype sets, including estrogen receptor (ER(+) or ER(-)) and human ERBB2 (HER2(+) or HER2(-)) tumor subtypes, mammographic density and tumor grade. The best candidate causal variants for ER(-) tumors lie in four separate enhancer elements, and their risk alleles reduce expression of ESR1, RMND1 and CCDC170, whereas the risk alleles of the strongest candidates for the remaining independent causal variant disrupt a silencer element and putatively increase ESR1 and RMND1 expression.Entities:
Mesh：
Substances：
Year: 2016 PMID： 26928228 PMCID： PMC4938803 DOI： 10.1038/ng.3521
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330