| Literature DB >> 27087578 |
Jiajun Shi1, Yanfeng Zhang1, Wei Zheng1, Kyriaki Michailidou2, Maya Ghoussaini3, Manjeet K Bolla2, Qin Wang2, Joe Dennis3, Michael Lush3, Roger L Milne4,5, Xiao-Ou Shu1, Jonathan Beesley6, Siddhartha Kar3, Irene L Andrulis7,8, Hoda Anton-Culver9, Volker Arndt10, Matthias W Beckmann11, Zhiguo Zhao1, Xingyi Guo1, Javier Benitez12,13, Alicia Beeghly-Fadiel1, William Blot1,14, Natalia V Bogdanova15, Stig E Bojesen16,17,18, Hiltrud Brauch19,20,21, Hermann Brenner10,21,22, Louise Brinton23, Annegien Broeks24, Thomas Brüning25, Barbara Burwinkel26,27, Hui Cai1, Sander Canisius28, Jenny Chang-Claude29, Ji-Yeob Choi30,31, Fergus J Couch32, Angela Cox33, Simon S Cross34, Kamila Czene35, Hatef Darabi35, Peter Devilee36,37, Arnaud Droit38, Thilo Dork39, Peter A Fasching11,40, Olivia Fletcher41, Henrik Flyger42, Florentia Fostira43, Valerie Gaborieau44, Montserrat García-Closas41,45, Graham G Giles4,5, Pascal Guenel46,47, Christopher A Haiman48, Ute Hamann49, Mikael Hartman50,51, Hui Miao50, Antoinette Hollestelle52, John L Hopper53, Chia-Ni Hsiung54, Hidemi Ito55, Anna Jakubowska56, Nichola Johnson41, Diana Torres49,57, Maria Kabisch49, Daehee Kang30,31,58, Sofia Khan58, Julia A Knight59,60, Veli-Matti Kosma61,62, Diether Lambrechts63,64, Jingmei Li35, Annika Lindblom65, Artitaya Lophatananon66, Jan Lubinski56, Arto Mannermaa61,62, Siranoush Manoukian67, Loic Le Marchand68, Sara Margolin69, Frederik Marme70,71, Keitaro Matsuo72, Catriona McLean73, Alfons Meindl53, Kenneth Muir66,74, Susan L Neuhausen75, Heli Nevanlinna58, Silje Nord76,77, Anne-Lise Børresen-Dale76,77, Janet E Olson78, Nick Orr79, Ans M W van den Ouweland80, Paolo Peterlongo81, Thomas Choudary Putti82, Anja Rudolph29, Suleeporn Sangrajrang83, Elinor J Sawyer84, Marjanka K Schmidt24, Rita K Schmutzler85,86,87,88, Chen-Yang Shen89,90, Ming-Feng Hou91, Matha J Shrubsole1, Melissa C Southey92, Anthony Swerdlow93, Soo Hwang Teo94,95, Bernard Thienpont63,64, Amanda E Toland96, Robert A E M Tollenaar97, Ian Tomlinson98, Therese Truong46,47, Chiu-Chen Tseng48, Wanqing Wen1, Robert Winqvist99,100, Anna H Wu48, Cheng Har Yip95, Pilar M Zamora101, Ying Zheng102, Giuseppe Floris103, Ching-Yu Cheng104, Maartje J Hooning52, John W M Martens52, Caroline Seynaeve52, Vessela N Kristensen76,77,105, Per Hall35, Paul D P Pharoah2,3, Jacques Simard38, Georgia Chenevix-Trench6,106, Alison M Dunning3, Antonis C Antoniou2, Douglas F Easton2,3, Qiuyin Cai1, Jirong Long1.
Abstract
Previous genome-wide association studies among women of European ancestry identified two independent breast cancer susceptibility loci represented by single nucleotide polymorphisms (SNPs) rs13281615 and rs11780156 at 8q24. A fine-mapping study across 2.06 Mb (chr8:127,561,724-129,624,067, hg19) in 55,540 breast cancer cases and 51,168 controls within the Breast Cancer Association Consortium was conducted. Three additional independent association signals in women of European ancestry, represented by rs35961416 (OR = 0.95, 95% CI = 0.93-0.97, conditional p = 5.8 × 10(-6) ), rs7815245 (OR = 0.94, 95% CI = 0.91-0.96, conditional p = 1.1 × 10(-6) ) and rs2033101 (OR = 1.05, 95% CI = 1.02-1.07, conditional p = 1.1 × 10(-4) ) were found. Integrative analysis using functional genomic data from the Roadmap Epigenomics, the Encyclopedia of DNA Elements project, the Cancer Genome Atlas and other public resources implied that SNPs rs7815245 in Signal 3, and rs1121948 in Signal 5 (in linkage disequilibrium with rs11780156, r(2) = 0.77), were putatively functional variants for two of the five independent association signals. The results highlighted multiple 8q24 variants associated with breast cancer susceptibility in women of European ancestry.Entities:
Keywords: 8q24; breast cancer; fine-mapping; genetic susceptibility; single nucleotide polymorphism
Mesh：
Year: 2016 PMID： 27087578 PMCID： PMC5110427 DOI： 10.1002/ijc.30150
Source DB: PubMed Journal: Int J Cancer ISSN： 0020-7136 Impact factor: 7.396