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

kConFab Investigators

doi:10.1002/ijc.30150

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

kConFab Investigators

Institute of Human Genetics

University of Melbourne
Vanderbilt University
University of Cambridge
Cancer Council Victoria
Queensland Institute of Medical Research
University of Toronto
University of California, Irvine
German Cancer Research Center
Friedrich-Alexander University Erlangen-Nürnberg
Centro de Investigación en Red de Enfermedades Raras
Centre for Biomedical Research on Rare Diseases (CIBERER)
International Epidemiology Institute
Hannover Medical School
Copenhagen University Hospital – Herlev and Gentofte
University of Copenhagen
Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology
University of Tübingen
National Cancer Institute (NCI)
Antoni van Leeuwenhoek Hospital
Institute for Prevention and Occupational Medicine of the German Social Accident Insurance (IPA)
Seoul National University
Mayo Clinic Rochester, MN
University of Sheffield
Karolinska Institutet
Leiden University
Université Laval Research Center
University of California at Los Angeles
Institute of Cancer Research
Demokritos National Centre for Scientific Research
International Agency for Research on Cancer
Oulu University Hospital
Occupational and Social Determinants of Health
APHP – Paris Saclay University
Keck School of Medicine of USC
National University of Singapore
National University Health System
Erasmus MC Cancer Institute
Technical University of Munich
Academia Sinica - Institute of Biomedical Sciences
Aichi Cancer Center Hospital and Research Institute
Pomeranian Medical University in Szczecin
Helsinki University Hospital
University of Eastern Finland
Vesalius Research Center
KU Leuven
University of Warwick
IRCCS Fondazione Istituto Nazionale per lo studio e la cura dei tumori - Milano
University of Hawaii Cancer Center
Heidelberg University
Kyushu University
Alfred Health
University of Manchester
City of Hope National Med Center
University of Oslo
Erasmus University Rotterdam
FIRC Institute of Molecular Oncology
The National Cancer Institute
Guy’s Hospital
University of Cologne
China Medical University Taichung
Kaohsiung Medical University Chung-Ho Memorial Hospital
Sime Darby Medical Centre
University of Malaya
Ohio State University
University of Oxford
University of Oulu
Northern Finland Laboratory Centre NordLab
Hospital Universitario La Paz
Shanghai Municipal Center for Disease Control and Prevention
University Hospitals Leuven

Research output: Contribution to journal › Article › peer-review

34 Scopus citations

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, r² = 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.

Original language	English
Pages (from-to)	1303-1317
Number of pages	15
Journal	International Journal of Cancer
Volume	139
Issue number	6
DOIs	https://doi.org/10.1002/ijc.30150
State	Published - 15 Sep 2016

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

8q24
breast cancer
fine-mapping
genetic susceptibility
single nucleotide polymorphism

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10.1002/ijc.30150

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@article{a9811a2897234d83b140959bb0241b27,

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

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, r2 = 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.",

keywords = "8q24, breast cancer, fine-mapping, genetic susceptibility, single nucleotide polymorphism",

author = "\{kConFab Investigators\} and Jiajun Shi and Yanfeng Zhang and Wei Zheng and Kyriaki Michailidou and Maya Ghoussaini and Bolla, \{Manjeet K.\} and Qin Wang and Joe Dennis and Michael Lush and Milne, \{Roger L.\} and Shu, \{Xiao Ou\} and Jonathan Beesley and Siddhartha Kar and Andrulis, \{Irene L.\} and Hoda Anton-Culver and Volker Arndt and Beckmann, \{Matthias W.\} and Zhiguo Zhao and Xingyi Guo and Javier Benitez and Alicia Beeghly-Fadiel and William Blot and Bogdanova, \{Natalia V.\} and Bojesen, \{Stig E.\} and Hiltrud Brauch and Hermann Brenner and Louise Brinton and Annegien Broeks and Thomas Br{\"u}ning and Barbara Burwinkel and Hui Cai and Sander Canisius and Jenny Chang-Claude and Choi, \{Ji Yeob\} and Couch, \{Fergus J.\} and Angela Cox and Cross, \{Simon S.\} and Kamila Czene and Hatef Darabi and Peter Devilee and Arnaud Droit and Thilo Dork and Fasching, \{Peter A.\} and Olivia Fletcher and Henrik Flyger and Florentia Fostira and Valerie Gaborieau and Montserrat Garc{\'i}a-Closas and Giles, \{Graham G.\} and Diana Torres",

note = "Publisher Copyright: {\textcopyright} 2016 UICC",

year = "2016",

month = sep,

day = "15",

doi = "10.1002/ijc.30150",

language = "English",

volume = "139",

pages = "1303--1317",

journal = "International Journal of Cancer",

issn = "0020-7136",

publisher = "John Wiley and Sons Inc.",

number = "6",

}

TY - JOUR

T1 - Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer

AU - kConFab Investigators

AU - Shi, Jiajun

AU - Zhang, Yanfeng

AU - Zheng, Wei

AU - Michailidou, Kyriaki

AU - Ghoussaini, Maya

AU - Bolla, Manjeet K.

AU - Wang, Qin

AU - Dennis, Joe

AU - Lush, Michael

AU - Milne, Roger L.

AU - Shu, Xiao Ou

AU - Beesley, Jonathan

AU - Kar, Siddhartha

AU - Andrulis, Irene L.

AU - Anton-Culver, Hoda

AU - Arndt, Volker

AU - Beckmann, Matthias W.

AU - Zhao, Zhiguo

AU - Guo, Xingyi

AU - Benitez, Javier

AU - Beeghly-Fadiel, Alicia

AU - Blot, William

AU - Bogdanova, Natalia V.

AU - Bojesen, Stig E.

AU - Brauch, Hiltrud

AU - Brenner, Hermann

AU - Brinton, Louise

AU - Broeks, Annegien

AU - Brüning, Thomas

AU - Burwinkel, Barbara

AU - Cai, Hui

AU - Canisius, Sander

AU - Chang-Claude, Jenny

AU - Choi, Ji Yeob

AU - Couch, Fergus J.

AU - Cox, Angela

AU - Cross, Simon S.

AU - Czene, Kamila

AU - Darabi, Hatef

AU - Devilee, Peter

AU - Droit, Arnaud

AU - Dork, Thilo

AU - Fasching, Peter A.

AU - Fletcher, Olivia

AU - Flyger, Henrik

AU - Fostira, Florentia

AU - Gaborieau, Valerie

AU - García-Closas, Montserrat

AU - Giles, Graham G.

AU - Torres, Diana

PY - 2016/9/15

Y1 - 2016/9/15

N2 - 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, r2 = 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.

AB - 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, r2 = 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.

KW - 8q24

KW - breast cancer

KW - fine-mapping

KW - genetic susceptibility

KW - single nucleotide polymorphism

UR - https://www.scopus.com/pages/publications/84977540132

U2 - 10.1002/ijc.30150

DO - 10.1002/ijc.30150

M3 - Article

C2 - 27087578

AN - SCOPUS:84977540132

SN - 0020-7136

VL - 139

SP - 1303

EP - 1317

JO - International Journal of Cancer

JF - International Journal of Cancer

IS - 6

ER -

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

Abstract

UN SDGs

Keywords

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