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Genome-wide association studies identify four ER negative–specific breast cancer risk loci
Copyright policy )EC| COGS ,
NIH| Genetic epidemiology of cell division regulation in breast cancer ,
NIH| Breast &prostate cancer &hormone-related gene variants ,
CIHR ,
NIH| Characterizing Genetic Susceptibility to Breast and Prostate Cancer;the BPC3 ,
NIH| Discovery Expansion and Replication ,
NIH| Characterizing Genetic Susceptibility to Breast and Prostate Cancer: The BPC3. ,
NIH| Breast &Prostate Cancer &Hormone-related Gene Variants ,
WT
Montserrat Garcia-Closas; Sara Lindström; Kyriaki Michailidou; Marjanka K. Schmidt; Mark N. Brook; Nick Orr; Suhn K. Rhie; +212 Authors
Montserrat Garcia-Closas; Sara Lindström; Kyriaki Michailidou; Marjanka K. Schmidt; Mark N. Brook; Nick Orr; Suhn K. Rhie; Elio Riboli; Loic Le Marchand; Julie E. Buring; Diana Eccles; Peter A. Fasching; Hiltrud Brauch; Jenny Chang-Claude; Andrew K. Godwin; Heli Nevanlinna; Graham G. Giles; Angela Cox; John L. Hopper; Manjeet K. Bolla; Qin Wang; Joe Dennis; Ed Dicks; Nils Schoof; Stig E. Bojesen; Diether Lambrechts; Annegien Broeks; Irene L. Andrulis; Pascal Guénel; Barbara Burwinkel; Antoinette Hollestelle; Olivia Fletcher; Robert Winqvist; Hermann Brenner; Arto Mannermaa; Ute Hamann; Alfons Meindl; Peter Devillee; Jan Lubinski; Vessela N. Kristensen; Anthony J. Swerdlow; Thilo Dörk; Keitaro Matsuo; Anna H. Wu; Paolo Radice; William Blot; Daehee Kang; Mikael Hartman; Suleeporn Sangrajrang; Chen-Yang Shen; Melissa C. Southey; Daniel J. Park; Fleur Hammet; Jennifer Stone; Sarah Stewart-Brown; Pornthep Siriwanarangsan; Julian Peto; Michael G. Schrauder; Arif B. Ekici; Matthias W. Beckmann; Isabel dos Santos Silva; Nichola Johnson; Helen R. Warren; Ian Tomlinson; Michael J. Kerin; Nicola Miller; Federick Marme; Christof Sohn; Thérèse Truong; Pierre Laurent-Puig; Pierre Kerbrat; Børge G. Nordestgaard; Sune F. Nielsen; Henrik Flyger; Roger L. Milne; Jose Ignacio Arias Perez; Primitiva Menéndez; Heiko Müller; Christa Stegmaier; Magdalena Lochmann; Christina Justenhoven; Yon Ko; Taru A. Muranen; Kristiina Aittomäki; Carl Blomqvist; Dario Greco; Tuomas Heikkinen; Hidemi Ito; Hiroji Iwata; Yasushi Yatabe; Natalia Antonenkova; Sara Margolin; Vesa Kataja; Jaana M. Hartikainen; Rosemary L. Balleine; David Van Den Berg; Patrick Neven; Anne Sophie Dieudonne; Karin Leunen; Anja Rudolph; Dieter Flesch-Janys; Paolo Peterlongo; Bernard Peissel; Loris Bernard; Janet E. Olson; Xianshu Wang; Kristen N. Stevens; Gianluca Severi; Laura Baglietto; Catriona McLean; Gerhard A. Coetzee; Ye Feng; Brian E. Henderson; Fredrick R. Schumacher; Natalia Bogdanova; Martine Dumont; Cheng Har Yip; Nur Aishah Taib; Ching-Yu Cheng; Martha J. Shrubsole; Jirong Long; Katri Pylkäs; Arja Jukkola-Vuorinen; Julia A. Knight; Gord Glendon; Anna Marie Mulligan; R.A.E.M. Tollenaar; Mieke Kriege; Maartje J. Hooning; Carolien H.M. van Deurzen; Wei Lu; Hui Cai; Sabapathy P. Balasubramanian; Simon S. Cross; Malcolm W.R. Reed; Hui Miao; Ching Wan Chan; Anna Jakubowska; Katarzyna Jaworska; Katarzyna Durda; Chia-Ni Hsiung; Pei Ei Wu; Alan Ashworth; Michael Jones; Daniel C. Tessier; Anna González-Neira; Guillermo Pita; M. Rosario Alonso; Daniel Vincent; Francois Bacot; Christine B. Ambrosone; Elisa V. Bandera; Esther M. John; Gary K. Chen; Jennifer J. Hu; Jorge L. Rodriguez-Gil; Michael F. Press; Sandra Deming-Halverson; Sarah J. Nyante; Sue A. Ingles; Quinten Waisfisz; Enes Makalic; Daniel F. Schmidt; Minh Bui; Lorna Gibson; Bertram Müller-Myhsok; Rita K. Schmutzler; Rebecca Hein; Norbert Dahmen; Lars Beckmann; Kamila Czene; Astrid Irwanto; Jianjun Liu; Clare Turnbull; Nazneen Rahman; Hanne Meijers-Heijboer; Fernando Rivadeneira; Curtis Olswold; Susan L. Slager; Robert Pilarski; Foluso O. Ademuyiwa; Irene Konstantopoulou; Nicholas G. Martin; Grant W. Montgomery; Dennis J. Slamon; Claudia Rauh; Michael P. Lux; Sebastian M. Jud; Thomas Brüning; JoEllen Weaver; Priyanka Sharma; Harsh B. Pathak; William J. Tapper; Lorraine Durcan; Rosario Tumino; Petra H.M. Peeters; Federico Canzian; Elisabete Weiderpass; Mattias Johansson; Kay-Tee Khaw; Laurence N. Kolonel; Constance Chen; Andrew H. Beck; Susan E. Hankinson; Christine D. Berg; Robert N. Hoover; Jolanta Lissowska; Jonine D. Figueroa; Daniel I. Chasman; Mia M. Gaudet; David J. Hunter; Jacques Simard; Javier Benitez; Alison M. Dunning; Mark E. Sherman; Georgia Chenevix-Trench; Stephen J. Chanock; Christopher A. Haiman; Peter Kraft;
Genome-wide association studies identify four ER negative–specific breast cancer risk loci
Estrogen receptor (ER)-negative tumors represent 20-30% of all breast cancers, with a higher proportion occurring in younger women and women of African ancestry. The etiology and clinical behavior of ER-negative tumors are different from those of tumors expressing ER (ER positive), including differences in genetic predisposition. To identify susceptibility loci specific to ER-negative disease, we combined in a metaanalysis 3 genome-wide association studies of 4,193 ER-negative breast cancer cases and 35,194 controls with a series of 40 follow-up studies (6,514 cases and 41,455 controls), genotyped using a custom Illumina array, iCOGS, developed by the Collaborative Oncological Gene-environment Study (COGS). SNPs at four loci, 1q32.1 (MDM4, P= 2.1 x 10(-12) and LGR6, P = 1.4 x 10(-8)), 2p24.1 (P = 4.6 x 10(-8)) and 16q12.2 (FTO, P = 4.0 x 10(-8)), were associated with ER-negative but not ER-positive breast cancer (P> 0.05). These findings provide further evidence for distinct etiological pathways associated with invasive ER-positive and ER-negative breast cancers.
United Kingdom, Netherlands, Italy, Ireland
- Vanderbilt University United States
- Karolinska Institute Sweden
- McGill University Canada
- University of Massachusetts Amherst United States
- University of North Carolina at Chapel Hill United States
Microsoft Academic Graph classification: Oncology Estrogen receptor Genome-wide association study Bioinformatics Genotype medicine.medical_specialty Single-nucleotide polymorphism Biology Breast cancer Internal medicine medicine Genetic predisposition Case-control study Cancer medicine.disease
genetic association, body-mass index, cancer risk, susceptibility, chromosome 1q, single nucleotide polymorphism, Risk Factors, estrogen, Cooperative Behavior, comparative study, Oligonucleotide Array Sequence Analysis, chromosome 16q, priority journal, Receptors, Estrogen, Female, cancer invasion, signal transduction, breast cancer; cancer invasion; cancer risk; chromosome 1; chromosome 16q; chromosome 1q; chromosome 2p; comparative study; follow up; gene locus; genetic association; genetic susceptibility; human; nucleotide sequence; priority journal; signal transduction; single nucleotide polymorphism, gene locus, Genotype, Breast Neoplasms, Polymorphism, Single Nucleotide, Article, breast cancer, SDG 3 - Good Health and Well-being, Meta-Analysis as Topic, expression, Genetics, follow up, Humans, Genetic Predisposition to Disease, human, gene, chromosome 1, nucleotide sequence, chromosome 2p, Genetic Loci, common variant, Case-Control Studies, genetic susceptibility, Genome-Wide Association Study
genetic association, body-mass index, cancer risk, susceptibility, chromosome 1q, single nucleotide polymorphism, Risk Factors, estrogen, Cooperative Behavior, comparative study, Oligonucleotide Array Sequence Analysis, chromosome 16q, priority journal, Receptors, Estrogen, Female, cancer invasion, signal transduction, breast cancer; cancer invasion; cancer risk; chromosome 1; chromosome 16q; chromosome 1q; chromosome 2p; comparative study; follow up; gene locus; genetic association; genetic susceptibility; human; nucleotide sequence; priority journal; signal transduction; single nucleotide polymorphism, gene locus, Genotype, Breast Neoplasms, Polymorphism, Single Nucleotide, Article, breast cancer, SDG 3 - Good Health and Well-being, Meta-Analysis as Topic, expression, Genetics, follow up, Humans, Genetic Predisposition to Disease, human, gene, chromosome 1, nucleotide sequence, chromosome 2p, Genetic Loci, common variant, Case-Control Studies, genetic susceptibility, Genome-Wide Association Study
Microsoft Academic Graph classification: Oncology Estrogen receptor Genome-wide association study Bioinformatics Genotype medicine.medical_specialty Single-nucleotide polymorphism Biology Breast cancer Internal medicine medicine Genetic predisposition Case-control study Cancer medicine.disease
2113
1. Chu KC, Anderson WF. Rates for breast cancer characteristics by estrogen and progesterone receptor status in the major racial/ethnic groups. Breast Cancer Res Treat. 2002; 74:199-211. [PubMed: 12206512]
2. Yang XR, et al. Associations of breast cancer risk factors with tumor subtypes:a pooled analysis from the Breast Cancer Association Consortium studies. J Natl Cancer Inst. 2011; 103:250-263. [PubMed: 21191117] [OpenAIRE]
3. Blows FM, et al. Subtyping of breast cancer by immunohistochemistry to investigate a relationship between subtype and short and long term survival: a collaborative analysis of data for 10,159 cases from 12 studies. PLoS Med. 2010; 7:e1000279. [PubMed: 20520800]
4. Mavaddat N, Antoniou AC, Easton DF, Garcia-Closas M. Genetic susceptibility to breast cancer. Mol Oncol. 2010; 4:174-191. [PubMed: 20542480]
5. Haiman CA, et al. A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer. Nat Genet. 2011; 43:1210-1214. [PubMed: 22037553]
6. Stevens KN, et al. 19p13.1 is a triple negative-specific breast cancer susceptibility locus. Cancer Res. 2012; 72:1795-1803. [PubMed: 22331459] [OpenAIRE]
7. Siddiq A, et al. A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. Hum Mol Genet. 2012; 21:5373-5384. [PubMed: 22976474] [OpenAIRE]
8. Michailidou K, et al. Large-scale genotyping identifies 41 new breast cancer susceptibility loci . Nat Genet. Mar 27.2013 published online. 10.1038/ng.2563
9. Turashvili G, et al. Novel markers for differentiation of lobular and ductal invasive breast carcinomas by laser microdissection and microarray analysis. BMC Cancer. 2007; 7:55. [PubMed: 17389037] [OpenAIRE]
10. Graham K, et al. Gene expression in histologically normal epithelium from breast cancer patients and from cancer-free prophylactic mastectomy patients shares a similar profile. Br. J Cancer. 2010; 102:1284-1293. [OpenAIRE]
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This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
Citations provided by BIP!popularityPopularity provided by BIP!
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
Popularity provided by BIP!influenceInfluence provided by BIP!
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
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This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
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Funded byView all
EC| COGS, NIH| Breast &prostate cancer &hormone-related gene variants, CIHR
, NIH| Genetic epidemiology of cell division regulation in breast cancer
Project
- National Institutes of Health (NIH)
- 3R01CA122340-03S1
- NATIONAL CANCER INSTITUTE
Project
- National Institutes of Health (NIH)
- 1U01CA098216-01
- NATIONAL CANCER INSTITUTE
Project
- Canadian Institutes of Health Research (CIHR)
Related to Research communitiesView all
- Vanderbilt University United States
- Karolinska Institute Sweden
- McGill University Canada
- University of Massachusetts Amherst United States
- University of North Carolina at Chapel Hill United States
- University of Salford United Kingdom
- National University of Singapore Singapore
- University of California, Irvine United States
- Miami University United States
- University of California System United States
- Utrecht University Netherlands
- International Agency For Research On Cancer France
- KU Leuven Belgium
- National Institutes of Health United States
- University of Copenhagen Denmark
- Leiden University Netherlands
- Centers for Disease Control and Prevention United States
- University System of Ohio United States
- University of Toronto Canada
- Max Planck Society Germany
- University of Pisa Italy
- Rutgers, The State University of New Jersey United States
- Institute of Cancer Research United Kingdom
- Mayo Clinic United States
- King's College London United Kingdom
- Robert Bosch (Germany) Germany
- University of Erlangen-Nuremberg Germany
- Seoul National University Korea (Republic of)
- University of Southampton United Kingdom
- Helmholtz Association of German Research Centres Germany
- University of Oxford United Kingdom
- University of California, Los Angeles United States
- University of Paris-Saclay France
- Mayo Clinic United States
- University of Melbourne Australia
- Imperial College London United Kingdom
- City Of Hope National Medical Center United States
- American Cancer Society United States
- Ruhr University Bochum Germany
- University of Warwick United Kingdom
- University of London United Kingdom
- Roswell Park Cancer Institute United States
- University of Oslo Norway
- Erasmus University Rotterdam Netherlands
- Universität Hamburg Germany
- University of Cologne Germany
- Kaiser Permanente United States
- Institute Curie France
- Agency for Science, Technology and Research Singapore
- QIMR Berghofer Medical Research Institute Australia
- University of Malaya Malaysia
- Hannover Medical School Germany
- Inserm France
- University of Hawaiʻi Sea Grant United States
- University of Tübingen Germany
- German Cancer Research Center Germany
- China Medical University Taiwan
- Amsterdam UMC - Vrije Universiteit Amsterdam Netherlands
- Pomeranian Medical University Poland
- Johannes Gutenberg University of Mainz Germany
- Cancer Research UK United Kingdom
- Cancer Council Victoria Australia
- Academy of Athens Greece
- Vrije Universiteit Amsterdam Netherlands
- Heidelberg University Germany
- Erasmus University Rotterdam Netherlands
- Harvard University United States
- University of Oulu Finland
- University of Kansas United States
- Leiden University Medical Center Netherlands
- Instituto de Salud Carlos III Spain
- National Defense Medical Center Taiwan
- Université Laval Canada
- The Alfred Hospital Australia
- Millennium Institute Brazil
- Institute for Cancer Prevention United States
- University of Helsinki Finland
- University of Sheffield United Kingdom
- University of Cambridge United Kingdom
- The Ohio State University United States
- Stanford University United States
- University of Sydney Australia
- Academia Sinica Taiwan
- University of Eastern Finland Finland
- Vlaams Instituut voor Biotechnologie Belgium
- National University of Ireland, Galway Ireland
- Ministry of Public Health Thailand
Estrogen receptor (ER)-negative tumors represent 20-30% of all breast cancers, with a higher proportion occurring in younger women and women of African ancestry. The etiology and clinical behavior of ER-negative tumors are different from those of tumors expressing ER (ER positive), including differences in genetic predisposition. To identify susceptibility loci specific to ER-negative disease, we combined in a metaanalysis 3 genome-wide association studies of 4,193 ER-negative breast cancer cases and 35,194 controls with a series of 40 follow-up studies (6,514 cases and 41,455 controls), genotyped using a custom Illumina array, iCOGS, developed by the Collaborative Oncological Gene-environment Study (COGS). SNPs at four loci, 1q32.1 (MDM4, P= 2.1 x 10(-12) and LGR6, P = 1.4 x 10(-8)), 2p24.1 (P = 4.6 x 10(-8)) and 16q12.2 (FTO, P = 4.0 x 10(-8)), were associated with ER-negative but not ER-positive breast cancer (P> 0.05). These findings provide further evidence for distinct etiological pathways associated with invasive ER-positive and ER-negative breast cancers.
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