Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer

Shi J, Zhang Y, Zheng W, Michailidou K, Ghoussaini M, Bolla MK, Wang Q, Dennis J, Lush M, Milne RL, Shu XO, Beesley J, Kar S, Andrulis IL, Anton-Culver H, Arndt V, Beckmann M, Zhao Z, Guo X, Benitez J, Beeghly-Fadiel A, Blot W, Bogdanova NV, Bojesen SE, Brauch H, Brenner H, Brinton L, Broeks A, Bruening T, Burwinkel B, Cai H, Canisius S, Chang-Claude J, Choi JY, Couch FJ, Cox A, Cross SS, Czene K, Darabi H, Devilee P, Droit A, Dork T, Fasching P, Fletcher O, Flyger H, Fostira F, Gaborieau V, Garcia-Closas M, Giles GG, Grip M, Guenel P, Haiman CA, Hamann U, Hartman M, Miao H, Hollestelle A, Hopper JL, Hsiung CN, Investigators K, Ito H, Jakubowska A, Johnson N, Torres D, Kabisch M, Kang D, Khan S, Knight JA, Kosma VM, Lambrechts D, Li J, Lindblom A, Lophatananon A, Lubinski J, Mannermaa A, Manoukian S, Le Marchand L, Margolin S, Marme F, Matsuo K, Mclean C, Meindl A, Muir K, Neuhausen SL, Nevanlinna H, Nord S, Borresen-Dale AL, Olson JE, Orr N, Van Den Ouweland AMW, Peterlongo P, Putti TC, Rudolph A, Sangrajrang S, Sawyer EJ, Schmidt MK, Schmutzler RK, Shen CY, Hou MF, Shrubsole MJ, Southey MC, Swerdlow A, Teo SH, Thienpont B, Toland AE, Tollenaar RAEM, Tomlinson I, Truong T, Tseng CC, Wen W, Winqvist R, Wu AH, Yip CH, Zamora PM, Zheng Y, Floris G, Cheng CY, Hooning MJ, Martens JWM, Seynaeve C, Kristensen VN, Hall P, Pharoah PDP, Simard J, Chenevix-Trench G, Dunning AM, Antoniou AC, Easton DF, Cai Q, Long J (2016)

Publication Type: Journal article

Publication year: 2016

Journal

Book Volume: 139

Pages Range: 1303-1317

Journal Issue: 6

DOI: 10.1002/ijc.30150

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.

Authors with CRIS profile

Involved external institutions

Vanderbilt University United States (USA) (US) University of Cambridge United Kingdom (GB) Cancer Council Victoria Australia (AU) QIMR Berghofer Medical Research Institute (früher: the Queensland Institute of Medical Research) Australia (AU) Mount Sinai Hospital (MSH) Canada (CA) Deutsches Krebsforschungszentrum (DKFZ) Germany (DE) Spanish National Cancer Research Centre / Centro Nacional de Investigaciones Oncológicas (CNIO) Spain (ES) Medizinische Hochschule Hannover (MHH) / Hannover Medical School Germany (DE) Herlev Hospital Denmark (DK) Robert-Bosch-Krankenhaus Germany (DE) National Cancer Institute (NCI) United States (USA) (US) Antoni van Leeuwenhoek Netherlands (NL) Institut für Prävention und Arbeitsmedizin der Deutschen Gesetzlichen Unfallversicherung (IPA) Germany (DE) Seoul National University (SNU) / 서울대학교 Korea, Republic of (KR) Mayo Clinic United States (USA) (US) University of Sheffield United Kingdom (GB) Karolinska Institute Sweden (SE) Leiden University Netherlands (NL) Université Laval (UL) Canada (CA) The Institute of Cancer Research (ICR) United Kingdom (GB) Copenhagen University Hospital Denmark (DK) National Centre for Scientific Research (NCSR) "Demokritos" Greece (GR) International Agency for Research on Cancer (IARC) France (FR) Oulu University Hospital Finland (FI) National Institute for Health and Medical Research / Institut national de la santé et de la recherche médicale (INSERM) France (FR) University of Southern California (USC) United States (USA) (US) National University of Singapore (NUS) Singapore (SG) Erasmus University Medical Center (MC) Netherlands (NL) Technische Universität München (TUM) Germany (DE) Academia Sinica / 中央研究院 Taiwan (TW) The University of Melbourne Australia (AU) Pomeranian Medical University / Pomorski Uniwersytet Medyczny w Szczecinie (PMU) Poland (PL) Helsingin yliopisto / University of Helsinki Finland (FI) University of Eastern Finland Finland (FI) Center for Cancer Biology (CCB) (formerly Vesalius Research Center (VRC)) Belgium (BE) University of Warwick United Kingdom (GB) Fondazione IRCCS: Istituto Nazionale dei Tumori Italy (IT) University of Hawaii (U.H.) United States (USA) (US) Ruprecht-Karls-Universität Heidelberg Germany (DE) Kyushu University / 九州大学 Japan (JP) The Alfred Hospital Australia (AU) City of Hope Medical Center United States (USA) (US) Oslo University Hospital / Oslo Universitetssykehus Rikshospitalet Norway (NO) Erasmus University Rotterdam (EUR) / Erasmus Universiteit Rotterdam Netherlands (NL) IFOM - FIRC Institute of Molecular Oncology Italy (IT) National University Health System (NUHS) Singapore (SG) Universitätsklinikum Köln Germany (DE) China Medical University (CMU) / 中國醫藥大學 Taiwan (TW) Kaohsiung Medical University (KMU) / 高雄醫學大學 Taiwan (TW) Cancer Research Initiatives Foundation (CARIF) / Cancer Research Malaysia (CRM) Malaysia (MY) Ohio State University United States (USA) (US) University of Oxford United Kingdom (GB) Oulun Yliopisto / University of Oulo Finland (FI) University of Malaya (UM) / Universiti Malaya Malaysia (MY) Hospital Universitario La Paz Spain (ES) King’s College London United Kingdom (GB) Shanghai Center For Disease Control And Prevention (SCDC) China (CN)

How to cite

APA:

Shi, J., Zhang, Y., Zheng, W., Michailidou, K., Ghoussaini, M., Bolla, M.K.,... Long, J. (2016). Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer. International Journal of Cancer, 139(6), 1303-1317. https://doi.org/10.1002/ijc.30150

MLA:

Shi, Jiajun, et al. "Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer." International Journal of Cancer 139.6 (2016): 1303-1317.

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