Letter

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Received:
Accepted:
Published online:

Abstract

Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease1. We conducted a GWAS using 21,468 ER-negative cases and 100,594 controls combined with 18,908 BRCA1 mutation carriers (9,414 with breast cancer), all of European origin. We identified independent associations at P < 5 × 10−8 with ten variants at nine new loci. At P < 0.05, we replicated associations with 10 of 11 variants previously reported in ER-negative disease or BRCA1 mutation carrier GWAS and observed consistent associations with ER-negative disease for 105 susceptibility variants identified by other studies. These 125 variants explain approximately 16% of the familial risk of this breast cancer subtype. There was high genetic correlation (0.72) between risk of ER-negative breast cancer and breast cancer risk for BRCA1 mutation carriers. These findings may lead to improved risk prediction and inform further fine-mapping and functional work to better understand the biological basis of ER-negative breast cancer.

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References

  1. 1.

    et al. Association analysis identifies 65 new breast cancer risk loci. Nature (in press).

  2. 2.

    et al. Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat. Genet. 41, 585–590 (2009).

  3. 3.

    et al. A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general population. Nat. Genet. 42, 885–892 (2010).

  4. 4.

    et al. Genome-wide association study identifies breast cancer risk variant at 10q21.2: results from the Asia Breast Cancer Consortium. Hum. Mol. Genet. 20, 4991–4999 (2011).

  5. 5.

    et al. A common coding variant in CASP8 is associated with breast cancer risk. Nat. Genet. 39, 352–358 (2007).

  6. 6.

    et al. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 447, 1087–1093 (2007).

  7. 7.

    et al. Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study. J. Natl. Cancer Inst. 103, 425–435 (2011).

  8. 8.

    et al. Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nat. Genet. 44, 312–318 (2012).

  9. 9.

    et al. A common variant at the TERTCLPTM1L locus is associated with estrogen receptor–negative breast cancer. Nat. Genet. 43, 1210–1214 (2011).

  10. 10.

    et al. Comparison of 6q25 breast cancer hits from Asian and European genome wide association studies in the Breast Cancer Association Consortium (BCAC). PLoS One 7, e42380 (2012).

  11. 11.

    et al. A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat. Genet. 39, 870–874 (2007).

  12. 12.

    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. 21, 5373–5384 (2012).

  13. 13.

    et al. Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor–positive breast cancer. Nat. Genet. 39, 865–869 (2007).

  14. 14.

    et al. Common variants on chromosome 5p12 confer susceptibility to estrogen receptor–positive breast cancer. Nat. Genet. 40, 703–706 (2008).

  15. 15.

    et al. A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). Nat. Genet. 41, 579–584 (2009).

  16. 16.

    et al. Genome-wide association study identifies five new breast cancer susceptibility loci. Nat. Genet. 42, 504–507 (2010).

  17. 17.

    et al. Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1. Nat. Genet. 41, 324–328 (2009).

  18. 18.

    et al. Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat. Genet. 45, 371–384, e1–e2 (2013).

  19. 19.

    et al. Genome-wide association studies identify four ER negative–specific breast cancer risk loci. Nat. Genet. 45, 392–398, e1–e2 (2013).

  20. 20.

    et al. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat. Genet. 45, 353–361, e1–e2 (2013).

  21. 21.

    et al. Genome-wide association analysis in East Asians identifies breast cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.1. Nat. Genet. 46, 886–890 (2014).

  22. 22.

    et al. Genome-wide association study in east Asians identifies novel susceptibility loci for breast cancer. PLoS Genet. 8, e1002532 (2012).

  23. 23.

    et al. Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. Nat. Genet. 47, 373–380 (2015).

  24. 24.

    et al. Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium. Hum. Mol. Genet. 23, 6096–6111 (2014).

  25. 25.

    et al. Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. PLoS Genet. 9, e1003173 (2013).

  26. 26.

    et al. Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1. Am. J. Hum. Genet. 93, 1046–1060 (2013).

  27. 27.

    et al. Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2. Hum. Mol. Genet. 24, 2966–2984 (2015).

  28. 28.

    et al. Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers. Am. J. Hum. Genet. 92, 489–503 (2013).

  29. 29.

    et al. Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. Nat. Genet. 48, 374–386 (2016).

  30. 30.

    et al. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. Nat. Commun. 7, 11375 (2016).

  31. 31.

    et al. Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus. Nat. Commun. 7, 12675 (2016).

  32. 32.

    et al. An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression. Hum. Mol. Genet. 25, 3863–3876 (2016).

  33. 33.

    et al. Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiol. Biomarkers Prev. 21, 134–147 (2012).

  34. 34.

    et al. The OncoArray Consortium: a network for understanding the genetic architecture of common cancers. Cancer Epidemiol. Biomarkers Prev. 26, 126–135 (2017).

  35. 35.

    et al. A weighted cohort approach for analysing factors modifying disease risks in carriers of high-risk susceptibility genes. Genet. Epidemiol. 29, 1–11 (2005).

  36. 36.

    , , & Evaluation of association methods for analysing modifiers of disease risk in carriers of high-risk mutations. Genet. Epidemiol. 36, 274–291 (2012).

  37. 37.

    et al. A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age. Cancer Epidemiol. Biomarkers Prev. 23, 658–669 (2014).

  38. 38.

    et al. 19p13.1 is a triple-negative-specific breast cancer susceptibility locus. Cancer Res. 72, 1795–1803 (2012).

  39. 39.

    , & METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics 26, 2190–2191 (2010).

  40. 40.

    et al. Bayesian refinement of association signals for 14 loci in 3 common diseases. Nat. Genet. 44, 1294–1301 (2012).

  41. 41.

    , & Evaluating the power to discriminate between highly correlated SNPs in genetic association studies. Genet. Epidemiol. 34, 463–468 (2010).

  42. 42.

    ENCODE Project Consortium. A user's guide to the Encyclopedia of DNA Elements (ENCODE). PLoS Biol. 9, e1001046 (2011).

  43. 43.

    & Systematic discovery and characterization of regulatory motifs in ENCODE TF binding experiments. Nucleic Acids Res. 42, 2976–2987 (2014).

  44. 44.

    et al. Integrative analysis of 111 reference human epigenomes. Nature 518, 317–330 (2015).

  45. 45.

    et al. Annotation of functional variation in personal genomes using RegulomeDB. Genome Res. 22, 1790–1797 (2012).

  46. 46.

    , , & Global view of enhancer–promoter interactome in human cells. Proc. Natl. Acad. Sci. USA 111, E2191–E2199 (2014).

  47. 47.

    et al. A 3D map of the human genome at kilobase resolution reveals principles of chromatin looping. Cell 159, 1665–1680 (2014).

  48. 48.

    et al. Combinatorial effects of multiple enhancer variants in linkage disequilibrium dictate levels of gene expression to confer susceptibility to common traits. Genome Res. 24, 1–13 (2014).

  49. 49.

    et al. A promoter-level mammalian expression atlas. Nature 507, 462–470 (2014).

  50. 50.

    GTEx Consortium. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans. Science 348, 648–660 (2015).

  51. 51.

    et al. Super-enhancers in the control of cell identity and disease. Cell 155, 934–947 (2013).

  52. 52.

    et al. Systematic identification of trans eQTLs as putative drivers of known disease associations. Nat. Genet. 45, 1238–1243 (2013).

  53. 53.

    et al. Small-molecule ligands of methyl-lysine binding proteins: optimization of selectivity for L3MBTL3. J. Med. Chem. 56, 7358–7371 (2013).

  54. 54.

    , , , & F-BOX proteins in cancer cachexia and muscle wasting: emerging regulators and therapeutic opportunities. Semin. Cancer Biol. 36, 95–104 (2016).

  55. 55.

    et al. Interaction of heat shock protein Cpn10 with the cyclin E/Cdk2 substrate nuclear protein ataxia-telangiectasia (NPAT) is involved in regulating histone transcription. J. Biol. Chem. 290, 29290–29300 (2015).

  56. 56.

    et al. Gene-panel sequencing and the prediction of breast-cancer risk. N. Engl. J. Med. 372, 2243–2257 (2015).

  57. 57.

    et al. Cyclin E2 is the predominant E-cyclin associated with NPAT in breast cancer cells. Cell Div. 10, 1 (2015).

  58. 58.

    et al. Integrative eQTL-based analyses reveal the biology of breast cancer risk loci. Cell 152, 633–641 (2013).

  59. 59.

    Cancer Genome Atlas Network. Comprehensive molecular portraits of human breast tumours. Nature 490, 61–70 (2012).

  60. 60.

    et al. The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups. Nature 486, 346–352 (2012).

  61. 61.

    , , , & Enrichment map: a network-based method for gene-set enrichment visualization and interpretation. PLoS One 5, e13984 (2010).

  62. 62.

    , & Pathway-based approaches for analysis of genomewide association studies. Am. J. Hum. Genet. 81, 1278–1283 (2007).

  63. 63.

    , & Analysing biological pathways in genome-wide association studies. Nat. Rev. Genet. 11, 843–854 (2010).

  64. 64.

    , , , & Gene set analysis of genome-wide association studies: methodological issues and perspectives. Genomics 98, 1–8 (2011).

  65. 65.

    et al. Cloning, chromosomal mapping, and regulatory properties of the human type 9 adenylyl cyclase (ADCY9). Genomics 50, 97–104 (1998).

  66. 66.

    et al. β-blocker use is associated with improved relapse-free survival in patients with triple-negative breast cancer. J. Clin. Oncol. 29, 2645–2652 (2011).

  67. 67.

    , , & The β2-adrenoceptor activates a positive cAMP–calcium feedforward loop to drive breast cancer cell invasion. FASEB J. 30, 1144–1154 (2016).

  68. 68.

    et al. Partitioning heritability by functional annotation using genome-wide association summary statistics. Nat. Genet. 47, 1228–1235 (2015).

  69. 69.

    et al. An atlas of genetic correlations across human diseases and traits. Nat. Genet. 47, 1236–1241 (2015).

  70. 70.

    et al. LD Score regression distinguishes confounding from polygenicity in genome-wide association studies. Nat. Genet. 47, 291–295 (2015).

  71. 71.

    & Genetic modifiers of cancer risk for BRCA1 and BRCA2 mutation carriers. Ann. Oncol. 22 (Suppl. 1), i11–i17 (2011).

  72. 72.

    et al. Prediction of breast cancer risk based on profiling with common genetic variants. J. Natl. Cancer Inst. 107, djv036 (2015).

  73. 73.

    , & A linear complexity phasing method for thousands of genomes. Nat. Methods 9, 179–181 (2011).

  74. 74.

    , & A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet. 5, e1000529 (2009).

  75. 75.

    , , , & Fast and accurate genotype imputation in genome-wide association studies through pre-phasing. Nat. Genet. 44, 955–959 (2012).

  76. 76.

    , , , & MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet. Epidemiol. 34, 816–834 (2010).

  77. 77.

    , & ProbABEL package for genome-wide association analysis of imputed data. BMC Bioinformatics 11, 134 (2010).

  78. 78.

    & Polygenic inheritance of breast cancer: implications for design of association studies. Genet. Epidemiol. 25, 190–202 (2003).

  79. 79.

    et al. The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions. Br. J. Cancer 98, 1457–1466 (2008).

  80. 80.

    et al. Polymorphisms in a putative enhancer at the 10q21.2 breast cancer risk locus regulate NRBF2 expression. Am. J. Hum. Genet. 97, 22–34 (2015).

  81. 81.

    et al. Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1. Am. J. Hum. Genet. 96, 5–20 (2015).

  82. 82.

    et al. Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation. Nat. Commun. 4, 4999 (2014).

  83. 83.

    et al. Fast and accurate inference of local ancestry in Latino populations. Bioinformatics 28, 1359–1367 (2012).

  84. 84.

    et al. An integrated map of genetic variation from 1,092 human genomes. Nature 491, 56–65 (2012).

  85. 85.

    & RSEM: accurate transcript quantification from RNA-Seq data with or without a reference genome. BMC Bioinformatics 12, 323 (2011).

  86. 86.

    et al. GISTIC2.0 facilitates sensitive and confident localization of the targets of focal somatic copy-number alteration in human cancers. Genome Biol. 12, R41 (2011).

  87. 87.

    Matrix eQTL: ultra fast eQTL analysis via large matrix operations. Bioinformatics 28, 1353–1358 (2012).

  88. 88.

    et al. Cytoscape: a software environment for integrated models of biomolecular interaction networks. Genome Res. 13, 2498–2504 (2003).

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Acknowledgements

We thank all the individuals who took part in these studies and all the researchers, clinicians, technicians and administrative staff who have enabled this work to be carried out.

Genotyping for the OncoArray was funded by the government of Canada through Genome Canada and the Canadian Institutes of Health Research (GPH-129344), the Ministère de l'Économie, de la Science et de l'Innovation du Québec through Génome Québec, the Quebec Breast Cancer Foundation for the PERSPECTIVE project, the US National Institutes of Health (NIH) (1 U19 CA 148065 for the Discovery, Biology and Risk of Inherited Variants in Breast Cancer (DRIVE) project and X01HG007492 to the Center for Inherited Disease Research (CIDR) under contract HHSN268201200008I), Cancer Research UK (C1287/A16563), the Odense University Hospital Research Foundation (Denmark), the National R&D Program for Cancer Control–Ministry of Health and Welfare (Republic of Korea) (1420190), the Italian Association for Cancer Research (AIRC; IG16933), the Breast Cancer Research Foundation, the National Health and Medical Research Council (Australia) and German Cancer Aid (110837).

Genotyping for the iCOGS array was funded by the European Union (HEALTH-F2-2009-223175), Cancer Research UK (C1287/A10710, C1287/A10118 and C12292/A11174]), NIH grants (CA128978, CA116167 and CA176785) and the Post-Cancer GWAS initiative (1U19 CA148537, 1U19 CA148065 and 1U19 CA148112 (GAME-ON initiative)), an NCI Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA116201), the Canadian Institutes of Health Research (CIHR) for the CIHR Team in Familial Risks of Breast Cancer, the Ministère de l'Économie, Innovation et Exportation du Québec (PSR-SIIRI-701), the Komen Foundation for the Cure, the Breast Cancer Research Foundation and the Ovarian Cancer Research Fund.

Combination of the GWAS data was supported in part by the NIH Cancer Post-Cancer GWAS initiative (1 U19 CA 148065) (DRIVE, part of the GAME-ON initiative). LD score regression analysis was supported by grant CA194393.

BCAC is funded by Cancer Research UK (C1287/A16563) and by the European Union via its Seventh Framework Programme (HEALTH-F2-2009-223175, COGS) and the Horizon 2020 Research and Innovation Programme (633784, B-CAST; 634935, BRIDGES). CIMBA is funded by Cancer Research UK (C12292/A20861 and C12292/A11174).

For a full description of funding and acknowledgments, see the Supplementary Note.

Author information

Author notes

    • Roger L Milne
    • , Karoline B Kuchenbaecker
    •  & Kyriaki Michailidou

    These authors contributed equally to this work.

    • Gary D Bader
    • , Paul D P Pharoah
    • , Fergus J Couch
    • , Douglas F Easton
    • , Peter Kraft
    • , Georgia Chenevix-Trench
    • , Montserrat García-Closas
    • , Marjanka K Schmidt
    • , Antonis C Antoniou
    •  & Jacques Simard

    These authors jointly directed this work.

Affiliations

  1. Cancer Epidemiology and Intelligence Division, Cancer Council Victoria, Melbourne, Victoria, Australia.

    • Roger L Milne
    • , Pierre-Antoine Dugué
    • , Graham G Giles
    •  & Robert J MacInnis
  2. Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Victoria, Australia.

    • Roger L Milne
    • , Pierre-Antoine Dugué
    • , Graham G Giles
    • , John L Hopper
    • , Robert J MacInnis
    • , Enes Makalic
    •  & Daniel F Schmidt
  3. Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.

    • Karoline B Kuchenbaecker
    • , Kyriaki Michailidou
    • , Joe Dennis
    • , Manjeet K Bolla
    • , Lesley McGuffog
    • , Qin Wang
    • , Jamie Allen
    • , Daniel Barnes
    • , Daniel Barrowdale
    • , Debra Frost
    • , Julie Lecarpentier
    • , Andrew Lee
    • , Michael Lush
    • , Paul D P Pharoah
    • , Douglas F Easton
    •  & Antonis C Antoniou
  4. Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.

    • Karoline B Kuchenbaecker
  5. Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

    • Kyriaki Michailidou
  6. Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.

    • Jonathan Beesley
    • , Xiaoqing Chen
    • , Amanda B Spurdle
    •  & Georgia Chenevix-Trench
  7. Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.

    • Siddhartha Kar
    • , Shahana Ahmed
    • , Caroline Baynes
    • , Don M Conroy
    • , Ed Dicks
    • , Alison M Dunning
    • , Laura Fachal
    • , Patricia Harrington
    • , Catherine S Healey
    • , Craig Luccarini
    • , Valerie Rhenius
    • , Mitul Shah
    • , Jonathan Tyrer
    • , Paul D P Pharoah
    •  & Douglas F Easton
  8. Department of Epidemiology, University of Washington School of Public Health, Seattle, Washington, USA.

    • Sara Lindström
  9. Program in Genetic Epidemiology and Statistical Genetics, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA.

    • Sara Lindström
    • , Xia Jiang
    • , Hilary Finucane
    • , David J Hunter
    • , Rulla M Tamimi
    •  & Peter Kraft
  10. Donnelly Centre, University of Toronto, Toronto, Ontario, Canada.

    • Shirley Hui
    • , Asha Rostamianfar
    •  & Gary D Bader
  11. Genomics Center, Centre Hospitalier Universitaire de Québec Research Center, Laval University, Québec City, Québec, Canada.

    • Audrey Lemaçon
    • , Penny Soucy
    • , Stéphane Dubois
    • , Martine Dumont
    • , Martine Tranchant
    • , Arnaud Droit
    •  & Jacques Simard
  12. Department of Mathematics, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.

    • Hilary Finucane
  13. Department of Clinical Genetics, Academic Medical Center, Amsterdam, the Netherlands.

    • Cora M Aalfs
    •  & Hanne Meijers-Heijboer
  14. Center for Inherited Disease Research (CIDR), Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

    • Marcia Adams
    • , Kimberly F Doheny
    • , Elizabeth Pugh
    •  & Jane Romm
  15. Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK.

    • Julian Adlard
  16. Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto (IOV), IRCCS, Padua, Italy.

    • Simona Agata
    •  & Marco Montagna
  17. Center for Cancer Epidemiology and Prevention, University of Chicago, Chicago, Illinois, USA.

    • Habibul Ahsan
    •  & Ling Tong
  18. Department of Clinical Genetics, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.

    • Kristiina Aittomäki
  19. Personalised Medicine Team, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.

    • Fares Al-Ejeh
  20. Roswell Park Cancer Institute, Buffalo, New York, USA.

    • Christine B Ambrosone
  21. Center for Genomic Medicine, Department of Biomedical Data Science, Geisel School of Medicine, Dartmouth College, Lebanon, New Hampshire, USA.

    • Christopher I Amos
    •  & Jinyoung Byun
  22. Fred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada.

    • Irene L Andrulis
    •  & Gord Glendon
  23. Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.

    • Irene L Andrulis
  24. Department of Epidemiology, University of California, Irvine, Irvine, California, USA.

    • Hoda Anton-Culver
    •  & Argyrios Ziogas
  25. N.N. Alexandrov Research Institute of Oncology and Medical Radiology, Minsk, Belarus.

    • Natalia N Antonenkova
    •  & Natalia V Bogdanova
  26. Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.

    • Volker Arndt
    • , Hermann Brenner
    •  & Katarina Cuk
  27. Institute of Clinical Molecular Biology / Department of Gynecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany.

    • Norbert Arnold
  28. Department of Public Health Sciences and Cancer Research Institute, Queen's University, Kingston, Ontario, Canada.

    • Kristan J Aronson
  29. Institute of Human Genetics, Hannover Medical School, Hannover, Germany.

    • Bernd Auber
  30. Cancer Prevention Program, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA.

    • Paul L Auer
    •  & Ross Prentice
  31. Zilber School of Public Health, University of Wisconsin–Milwaukee, Milwaukee, Wisconsin, USA.

    • Paul L Auer
  32. Department of Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.

    • Margreet G E M Ausems
  33. Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico), Istituto Nazionale dei Tumori (INT), Milan, Italy.

    • Jacopo Azzollini
    • , Siranoush Manoukian
    • , Bernard Peissel
    •  & Daniela Zaffaroni
  34. McGill University and Génome Québec Innovation Centre, Montréal, Québec, Canada.

    • François Bacot
    • , Nathalie Hamel
    • , Daniel C Tessier
    •  & Daniel Vincent
  35. Department of Medical Oncology, University Hospital, Vall d'Hebron, Barcelona, Spain.

    • Judith Balmaña
  36. Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan, Italy.

    • Monica Barile
    •  & Bernardo Bonanni
  37. Bâtiment Cheney D, Centre Léon Bérard, Lyon, France.

    • Laure Barjhoux
    •  & Francesca Damiola
  38. Laboratory of Cell Biology, Department of Pathology, Landspitali, Reykjavik, Iceland.

    • Rosa B Barkardottir
  39. BMC (Biomedical Centre), Faculty of Medicine, University of Iceland, Reykjavik, Iceland.

    • Rosa B Barkardottir
  40. Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.

    • Myrto Barrdahl
    • , Jenny Chang-Claude
    • , Ursula Eilber
    • , Rudolf Kaaks
    •  & Anja Rudolph
  41. Department of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.

    • Matthias W Beckmann
    • , Peter A Fasching
    • , Lothar Haeberle
    •  & Alexander Hein
  42. Human Genotyping Unit -Centro Nacional de Genotipado (CEGEN), Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.

    • Javier Benitez
    •  & Anna González-Neira
  43. Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Centre (CNIO), Madrid, Spain.

    • Javier Benitez
    •  & Ana Osorio
  44. Spanish Network on Rare Diseases (CIBERER), Madrid, Spain.

    • Javier Benitez
    •  & Ana Osorio
  45. Institute of Biochemistry and Genetics, Ufa Scientific Center of the Russian Academy of Sciences, Ufa, Russian Federation.

    • Marina Bermisheva
    •  & Elza Khusnutdinova
  46. Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California, USA.

    • Leslie Bernstein
    • , Yuan Chun Ding
    •  & Susan L Neuhausen
  47. Université Clermont Auvergne, INSERM, U1240, Imagerie Moléculaire et Stratégies Théranostiques, Centre Jean Perrin, Clermont-Ferrand, France.

    • Yves-Jean Bignon
  48. Clinical Cancer Genetics, City of Hope, Duarte, California, USA.

    • Kathleen R Blazer
    •  & Jeffrey N Weitzel
  49. Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.

    • Marinus J Blok
  50. Department of Oncology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.

    • Carl Blomqvist
  51. Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.

    • William Blot
    • , Qiuyin Cai
    • , Jirong Long
    • , Martha J Shrubsole
    • , Xiao-Ou Shu
    •  & Wei Zheng
  52. International Epidemiology Institute, Rockville, Maryland, USA.

    • William Blot
  53. City of Hope Clinical Cancer Genomics Community Research Network, Duarte, California, USA.

    • Kristie Bobolis
    •  & Sue Nadesan
  54. Vesalius Research Center, VIB, Leuven, Belgium.

    • Bram Boeckx
    •  & Diether Lambrechts
  55. Laboratory for Translational Genetics, Department of Oncology, University of Leuven, Leuven, Belgium.

    • Bram Boeckx
    •  & Diether Lambrechts
  56. Department of Radiation Oncology, Hannover Medical School, Hannover, Germany.

    • Natalia V Bogdanova
    •  & Hans Christiansen
  57. Gynaecology Research Unit, Hannover Medical School, Hannover, Germany.

    • Natalia V Bogdanova
    • , Thilo Dörk
    • , Sonja Helbig
    • , Peter Hillemanns
    • , Tjoung-Won Park-Simon
    •  & Peter Schürmann
  58. Department of Clinical Genetics, Vejle Hospital, Vejle, Denmark.

    • Anders Bojesen
  59. Copenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.

    • Stig E Bojesen
    • , Sune F Nielsen
    •  & Børge G Nordestgaard
  60. Department of Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.

    • Stig E Bojesen
    • , Sune F Nielsen
    •  & Børge G Nordestgaard
  61. Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

    • Stig E Bojesen
    •  & Børge G Nordestgaard
  62. Department of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital Radiumhospitalet, Oslo, Norway.

    • Anne-Lise Børresen-Dale
    • , Grethe I Grenaker Alnæs
    •  & Vessela N Kristensen
  63. Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary.

    • Aniko Bozsik
    •  & Edith Olah
  64. Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

    • Angela R Bradbury
    • , Susan M Domchek
    •  & Katherine L Nathanson
  65. Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.

    • Judith S Brand
    • , Kamila Czene
    • , Hatef Darabi
    • , Mikael Eriksson
    • , Marike Gabrielson
    • , Keith Humphreys
    • , Jingmei Li
    •  & Per Hall
  66. Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany.

    • Hiltrud Brauch
    •  & Wing-Yee Lo
  67. University of Tübingen, Tübingen, Germany.

    • Hiltrud Brauch
    •  & Wing-Yee Lo
  68. German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.

    • Hiltrud Brauch
    •  & Hermann Brenner
  69. Division of Preventive Oncology, German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT), Heidelberg, Germany.

    • Hermann Brenner
  70. Gustave Roussy, Biopathology Department, Villejuif, France.

    • Brigitte Bressac-de Paillerets
    •  & Olivier Caron
  71. Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter, UK.

    • Carole Brewer
  72. Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA.

    • Louise Brinton
    • , Stephen J Chanock
    • , Jonine Figueroa
    • , Bob Hoover
    • , Zhaoming Wang
    • , Xiaohong R Yang
    •  & Montserrat García-Closas
  73. Department of Cancer Epidemiology, Clinical Sciences, Lund University, Lund, Sweden.

    • Per Broberg
    •  & Håkan Olsson
  74. Genome Sciences Centre, BC Cancer Agency, Vancouver, British Columbia, Canada.

    • Angela Brooks-Wilson
  75. Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, British Columbia, Canada.

    • Angela Brooks-Wilson
  76. Genetic Counseling Unit, Hereditary Cancer Program, IDIBGI (Institut d'Investigació Biomèdica de Girona), Catalan Institute of Oncology, Girona, Spain.

    • Joan Brunet
  77. Institute for Prevention and Occupational Medicine of the German Social Accident Insurance, Institute of the Ruhr University Bochum (IPA), Bochum, Germany.

    • Thomas Brüning
  78. Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany.

    • Barbara Burwinkel
    •  & Harald Surowy
  79. Molecular Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany.

    • Barbara Burwinkel
    •  & Harald Surowy
  80. Department of Medicine, Huntsman Cancer Institute, Salt Lake City, Utah, USA.

    • Saundra S Buys
  81. Medical Oncology Department, CIBERONC, Hospital Clínico San Carlos, Madrid, Spain.

    • Trinidad Caldés
    • , Vanesa Garcia-Barberan
    • , José A García-Sáenz
    •  & Atocha Romero
  82. Section of Molecular Genetics, Department of Laboratory Medicine, University of Pisa and University Hospital of Pisa, Pisa, Italy.

    • Maria A Caligo
  83. Research Department, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia.

    • Ian Campbell
  84. Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, Victoria, Australia.

    • Ian Campbell
    • , Paul James
    •  & Gillian Mitchell
  85. Genomic Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany.

    • Federico Canzian
  86. Genomic Medicine Group, Galician Foundation of Genomic Medicine, Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Complejo Hospitalario Universitario de Santiago, Servizo Galego de Saúde SERGAS, Santiago de Compostela, Spain.

    • Angel Carracedo
    •  & Manuela Gago-Dominguez
  87. Centro de Investigación en Red de Enfermedades Raras (CIBERER) and Centro Nacional de Genotipado (CEGEN-PRB2), Universidade de Santiago de Compostela, Santiago de Compostela, Spain.

    • Angel Carracedo
  88. Epidemiology Research Program, American Cancer Society, Atlanta, Georgia, USA.

    • Brian D Carter
    • , Susan M Gapstur
    •  & Mia M Gaudet
  89. Oncology and Genetics Unit, Instituto de Investigación Biomédica (IBI) de Orense-Pontevedra-Vigo, Xerencia de Xestión Integrada de Vigo, Servizo Galego de Saúde SERGAS, Vigo, Spain.

    • J Esteban Castelao
  90. Centre François Baclesse, Caen, France.

    • Laurent Castera
  91. Service de Génétique Oncologique and INSERM U830, Institut Curie, Paris, France - Université Paris Descartes, Sorbonne Paris Cité.

    • Virginie Caux-Moncoutier
    • , Marion Gauthier-Villars
    •  & Dominique Stoppa-Lyonnet
  92. Cancer Genetics and Prevention Program, University of California, San Francisco, San Francisco, California, USA.

    • Salina B Chan
  93. University Cancer Center Hamburg (UCCH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

    • Jenny Chang-Claude
  94. Division of Cancer Prevention and Population Sciences, Roswell Park Cancer Institute, Buffalo, New York, USA.

    • Ting-Yuan David Cheng
  95. Unité de Recherche en Santé des Populations, Centre des Maladies du Sein Deschênes-Fabia, Hôpital du Saint-Sacrement, Québec City, Québec, Canada.

    • Jocelyne Chiquette
  96. Center for Medical Genetics, Ghent University, Ghent, Belgium.

    • Kathleen B M Claes
    • , Kim De Leeneer
    •  & Bruce Poppe
  97. Westmead Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia.

    • Christine L Clarke
  98. Huntsman Cancer Institute, Salt Lake City, Utah, USA.

    • Thomas Conner
  99. Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, UK.

    • Jackie Cook
  100. Cancer and Environment Group, Center for Research in Epidemiology and Population Health (CESP), INSERM, University Paris-Sud, University Paris-Saclay, Villejuif, France.

    • Emilie Cordina-Duverger
    • , Pascal Guénel
    •  & Thérèse Truong
  101. Division of Molecular Pathology, Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands.

    • Sten Cornelissen
    • , Renske Keeman
    • , Jelle Wesseling
    •  & Marjanka K Schmidt
  102. Unité d'Oncogénétique, CHU Arnaud de Villeneuve, Montpellier, France.

    • Isabelle Coupier
  103. Academic Unit of Molecular Oncology, Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK.

    • Angela Cox
  104. Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London, UK.

    • David G Cox
  105. INSERM U1052, Cancer Research Center of Lyon, Lyon, France.

    • David G Cox
  106. Academic Unit of Pathology, Department of Neuroscience, University of Sheffield, Sheffield, UK.

    • Simon S Cross
  107. Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.

    • Julie M Cunningham
    • , Chunling Hu
    • , Jeffery Meyer
    • , Hermela Shimelis
    • , Jason Vollenweider
    •  & Fergus J Couch
  108. Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, Pennsylvania, USA.

    • Mary B Daly
  109. Department of Clinical Genetics, South Glasgow University Hospitals, Glasgow, UK.

    • Rosemarie Davidson
  110. Department of Pathology, Leiden University Medical Center, Leiden, the Netherlands.

    • Peter Devilee
  111. Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.

    • Peter Devilee
    •  & Juul T Wijnen
  112. Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO), Clinical and Molecular Genetics Area, Vall d'Hebron University Hospital, Barcelona, Spain.

    • Orland Diez
  113. Department of Gynecology and Obstetrics, Ludwig Maximilians University of Munich, Munich, Germany.

    • Nina Ditsch
    •  & Brigitte Rack
  114. Cancer Genetics Laboratory, Department of Genetics, University of Pretoria, Arcadia, South Africa.

    • Cecilia M Dorfling
    •  & Elizabeth J van Rensburg
  115. Department of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, UK.

    • Isabel dos-Santos-Silva
    •  & Julian Peto
  116. Southampton Clinical Trials Unit, Faculty of Medicine, University of Southampton, Southampton, UK.

    • Lorraine Durcan
    •  & Tom Maishman
  117. Cancer Sciences Academic Unit, Faculty of Medicine, University of Southampton, Southampton, UK.

    • Lorraine Durcan
    • , Diana Eccles
    •  & Tom Maishman
  118. Department of Biomedical Sciences, Faculty of Science and Technology, University of Westminster, London, UK.

    • Miriam Dwek
    •  & Nadege Presneau
  119. Institute of Human Genetics, University of Münster, Münster, Germany.

    • Bernd Dworniczak
  120. Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, London, UK.

    • Ros Eeles
  121. Department of Clinical Genetics, Lund University Hospital, Lund, Sweden.

    • Hans Ehrencrona
  122. Department of Oncology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.

    • Bent Ejlertsen
  123. Institute of Human Genetics, University Hospital Erlangen, Friedrich Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.

    • Arif B Ekici
  124. Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

    • A Heather Eliassen
    •  & Rulla M Tamimi
  125. Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA.

    • A Heather Eliassen
    • , David J Hunter
    • , Rulla M Tamimi
    • , Walter Willett
    •  & Peter Kraft
  126. Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.

    • Christoph Engel
  127. LIFE–Leipzig Research Centre for Civilization Diseases, University of Leipzig, Leipzig, Germany.

    • Christoph Engel
  128. Genetics Department, Dijon University Hospital, Dijon, France.

    • Laurence Faivre
  129. Oncogenetics, Centre Georges-François Leclerc, Dijon, France.

    • Laurence Faivre
  130. Division of Hematology and Oncology, Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.

    • Peter A Fasching
  131. Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.

    • Ulrike Faust
  132. Usher Institute of Population Health Sciences and Informatics, CRUK Edinburgh Centre, University of Edinburgh Medical School, Edinburgh, UK.

    • Jonine Figueroa
  133. Institute for Medical Biometrics and Epidemiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

    • Dieter Flesch-Janys
  134. Department of Cancer Epidemiology, Clinical Cancer Registry, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

    • Dieter Flesch-Janys
    •  & Kathrin Thöne
  135. Breast Cancer Now Toby Robins Research Centre, The Institute of Cancer Research, London, UK.

    • Olivia Fletcher
    • , Nichola Johnson
    •  & Nick Orr
  136. Department of Breast Surgery, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.

    • Henrik Flyger
  137. Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montréal, Québec, Canada.

    • William D Foulkes
    •  & Marc Tischkowitz
  138. Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Chaim Sheba Medical Center, Ramat Gan, Israel.

    • Eitan Friedman
    •  & Yael Laitman
  139. Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel.

    • Eitan Friedman
  140. School of Public Health, Curtin University, Perth, Western Australia, Australia.

    • Lin Fritschi
  141. Clinical Cancer Genetics Laboratory, Memorial Sloan Kettering Cancer Center, New York, New York, USA.

    • Pragna Gaddam
  142. Department of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

    • Marilie D Gammon
  143. Division of Cancer Prevention and Control Research, Jonsson Comprehensive Cancer Center, Schools of Medicine and Public Health, University of California, Los Angeles, Los Angeles, California, USA.

    • Patricia A Ganz
  144. Cancer Risk and Prevention Clinic, Dana-Farber Cancer Institute, Boston, Massachusetts, USA.

    • Judy Garber
  145. Centre of Familial Breast and Ovarian Cancer, Department of Medical Genetics, Institute of Human Genetics, University Würzburg, Würzburg, Germany.

    • Andrea Gehrig
  146. Department of Medical Oncology, University Hospital of Heraklion, Heraklion, Greece.

    • Vassilios Georgoulias
    •  & Dimitrios Mavroudis
  147. Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark.

    • Anne-Marie Gerdes
  148. Department of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, Kansas, USA.

    • Andrew K Godwin
  149. Department of Medicine, McGill University, Montréal, Québec, Canada.

    • Mark S Goldberg
  150. Division of Clinical Epidemiology, Royal Victoria Hospital, McGill University, Montréal, Québec, Canada.

    • Mark S Goldberg
  151. Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, USA.

    • David E Goldgar
  152. Department of Obstetrics and Gynecology, Ohio State University James Comprehensive Cancer Center, Columbus, Ohio, USA.

    • Paul Goodfellow
  153. Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, US National Institutes of Health, Bethesda, Maryland, USA.

    • Mark H Greene
    •  & Jennifer T Loud
  154. Department of Surgery, Oulu University Hospital, University of Oulu, Oulu, Finland.

    • Mervi Grip
  155. Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.

    • Jacek Gronwald
    • , Anna Jakubowska
    • , Katarzyna Kaczmarek
    • , Jan Lubinski
    •  & Grzegorz Sukiennicki
  156. Centre de Recherche du Centre Hospitalier de Université de Montréal (CHUM), Montréal, Québec, Canada.

    • Anne Grundy
  157. Department of Obstetrics and Gynaecology and Comprehensive Cancer Centre, Medical University of Vienna, Vienna, Austria.

    • Daphne Gschwantler-Kaulich
    • , Sung-Won Kim
    • , Christine Rappaport-Fuerhauser
    • , Christian F Singer
    •  & Yen Y Tan
  158. Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.

    • Qi Guo
    •  & Georg Pfeiler
  159. Center for Familial Breast and Ovarian Cancer, University Hospital of Cologne, Cologne, Germany.

    • Eric Hahnen
    • , Kerstin Rhiem
    • , Barbara Wappenschmidt
    •  & Rita K Schmutzler
  160. Center for Integrated Oncology (CIO), University Hospital of Cologne, Cologne, Germany.

    • Eric Hahnen
    • , Kerstin Rhiem
    •  & Barbara Wappenschmidt
  161. Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.

    • Eric Hahnen
    • , Kerstin Rhiem
    • , Barbara Wappenschmidt
    •  & Rita K Schmutzler
  162. Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.

    • Christopher A Haiman
    • , Eunjung Lee
    • , Xin Sheng
    • , David Van Den Berg
    • , Anna H Wu
    •  & Lucy Xia
  163. Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden.

    • Niclas Håkansson
    •  & Alicja Wolk
  164. Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.

    • Emily Hallberg
    • , Steven N Hart
    • , Aaron Norman
    • , Janet E Olson
    • , Curtis Olswold
    • , Christopher Scott
    •  & Celine Vachon
  165. Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.

    • Ute Hamann
    • , Guanmengqian Huang
    • , Maria Kabisch
    •  & Diana Torres
  166. Department of Biostatistics and Epidemiology, University of Massachusetts, Amherst, Amherst, Massachusetts, USA.

    • Susan Hankinson
  167. Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.

    • Thomas V O Hansen
  168. Translational Cancer Research Area, University of Eastern Finland, Kuopio, Finland.

    • Jaana M Hartikainen
    • , Veli-Matti Kosma
    • , Maria Tengström
    •  & Arto Mannermaa
  169. Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, Kuopio, Finland.

    • Jaana M Hartikainen
    • , Veli-Matti Kosma
    •  & Arto Mannermaa
  170. Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, Kuopio, Finland.

    • Jaana M Hartikainen
    • , Veli-Matti Kosma
    •  & Arto Mannermaa
  171. Institute of Genetic Medicine, Centre for Life, Newcastle-upon-Tyne Hospitals NHS Trust, Newcastle-upon-Tyne, UK.

    • Alex Henderson
  172. School of Population Health, University of Western Australia, Perth, Western Australia, Australia.

    • Jane Heyworth
  173. Cancer Genomics Research Laboratory (CGR), Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA.

    • Belynda Hicks
    • , Kristine Jones
    •  & Bin Zhu
  174. Medical Genetics Unit, St George's, University of London, London, UK.

    • Shirley Hodgson
  175. Family Cancer Clinic, Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands.

    • Frans B Hogervorst
  176. Department of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, the Netherlands.

    • Antoinette Hollestelle
    • , Maartje J Hooning
    • , John W M Martens
    •  & Caroline Seynaeve
  177. Center for Medical Genetics, NorthShore University HealthSystem, Evanston, Illinois, USA.

    • Peter J Hulick
  178. Pritzker School of Medicine, University of Chicago, Evanston, Illinois, USA.

    • Peter J Hulick
  179. N.N. Petrov Institute of Oncology, St. Petersburg, Russian Federation.

    • Evgeny N Imyanitov
  180. Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC, USA.

    • Claudine Isaacs
  181. Division of Epidemiology, Center for Public Health Sciences, National Cancer Center, Tokyo, Japan.

    • Motoki Iwasaki
  182. Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK.

    • Louise Izatt
  183. Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.

    • Paul James
    •  & Gillian Mitchell
  184. State Research Institute Centre for Innovative Medicine, Vilnius, Lithuania.

    • Ramunas Janavicius
  185. Department of Gynaecology and Obstetrics, University of Ulm, Ulm, Germany.

    • Wolfgang Janni
    • , Brigitte Rack
    • , Lukas Schwentner
    •  & Shan Wang-Gohrke
  186. Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.

    • Uffe Birk Jensen
  187. Department of Epidemiology, Cancer Prevention Institute of California, Fremont, California, USA.

    • Esther M John
  188. Department of Health Research and Policy, Stanford University School of Medicine, Stanford, California, USA.

    • Esther M John
    •  & Alice S Whittemore
  189. Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.

    • Michael Jones
    • , Minouk J Schoemaker
    •  & Anthony Swerdlow
  190. Department of Oncology, Oulu University Hospital, University of Oulu, Oulu, Finland.

    • Arja Jukkola-Vuorinen
  191. Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea.

    • Daehee Kang
    •  & Sue K Park
  192. Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.

    • Daehee Kang
  193. Cancer Research Institute, Seoul National University, Seoul, Republic of Korea.

    • Daehee Kang
    •  & Sue K Park
  194. Department of Gynecology and Obstetrics, Medical Faculty and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

    • Karin Kast
  195. School of Medicine, National University of Ireland, Galway, Ireland.

    • Michael J Kerin
    •  & Nicola Miller
  196. Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.

    • Carolien M Kets
  197. Leuven Multidisciplinary Breast Center, Department of Oncology, Leuven Cancer Institute, University Hospitals Leuven, Leuven, Belgium.

    • Machteld Keupers
    •  & Ines Nevelsteen
  198. Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.

    • Sofia Khan
    • , Johanna I Kiiski
    •  & Heli Nevanlinna
  199. Department of Genetics and Fundamental Medicine, Bashkir State University, Ufa, Russian Federation.

    • Elza Khusnutdinova
    •  & Darya Prokofieva
  200. Prosserman Centre for Health Research, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada.

    • Julia A Knight
  201. Division of Epidemiology, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.

    • Julia A Knight
  202. Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos', Athens, Greece.

    • Irene Konstantopoulou
    •  & Drakoulis Yannoukakos
  203. Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.

    • Vessela N Kristensen
  204. Department of Clinical Molecular Biology, Oslo University Hospital, University of Oslo, Oslo, Norway.

    • Vessela N Kristensen
  205. Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.

    • Torben A Kruse
    •  & Mads Thomassen
  206. Hong Kong Hereditary Breast Cancer Family Registry, Hong Kong.

    • Ava Kwong
  207. Department of Surgery, University of Hong Kong, Hong Kong.

    • Ava Kwong
  208. Department of Surgery, Hong Kong Sanatorium and Hospital, Hong Kong.

    • Ava Kwong
  209. Department of Pathology, University Hospital of Region Zealand, Division Slagelse, Slagelse, Denmark.

    • Anne-Vibeke Lænkholm
  210. Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

    • Fiona Lalloo
  211. Clalit National Cancer Control Center, Haifa, Israel.

    • Keren Landsman
    • , Flavio Lejbkowicz
    • , Mila Pinchev
    • , Gad Rennert
    •  & Hedy S Rennert
  212. Unité de Prévention et d'Epidémiologie Génétique, Centre Léon Bérard, Lyon, France.

    • Christine Lasset
  213. Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, Barcelona, Spain.

    • Conxi Lazaro
  214. University of Hawaii Cancer Center, Honolulu, Hawaii, USA.

    • Loic Le Marchand
  215. Department of Surgery, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Republic of Korea.

    • Jong Won Lee
  216. Department of Surgery, Soonchunhyang University and Hospital, Seoul, Republic of Korea.

    • Min Hyuk Lee
  217. Institut Curie, Paris, France.

    • Fabienne Lesueur
  218. PSL Research University, Paris, France.

    • Fabienne Lesueur
  219. INSERM U900, Paris, France.

    • Fabienne Lesueur
  220. Mines Paris Tech, Fontainebleau, France.

    • Fabienne Lesueur
  221. Department of Health Sciences Research, Mayo Clinic, Scottsdale, Arizona, USA.

    • Jenna Lilyquist
  222. Clinical Genetics Research Laboratory, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.

    • Anne Lincoln
    •  & Joseph Vijai
  223. Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.

    • Annika Lindblom
  224. Department of Cancer Epidemiology and Prevention, M. Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Warsaw, Poland.

    • Jolanta Lissowska
  225. German Breast Group, Neu Isenburg, Germany.

    • Sibylle Loibl
  226. Research Centre for Genetic Engineering and Biotechnology 'Georgi D. Efremov', Macedonian Academy of Sciences and Arts, Skopje, Macedonia.

    • Ivana Maleva Kostovska
    •  & Dijana Plaseska-Karanfilska
  227. Division of Public Health Sciences, Epidemiology Program, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA.

    • Kathleen E Malone
  228. Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

    • JoAnn E Manson
  229. Department of Oncology, Pathology, Karolinska Institutet, Stockholm, Sweden.

    • Sara Margolin
    •  & Camilla Wendt
  230. Moores Cancer Center, University of California, San Diego, La Jolla, California, USA.

    • Maria Elena Martinez
    •  & Manuela Gago-Dominguez
  231. Department of Family Medicine and Public Health, University of California, San Diego, La Jolla, California, USA.

    • Maria Elena Martinez
  232. Division of Molecular and Clinical Epidemiology, Aichi Cancer Center Research Institute, Nagoya, Japan.

    • Keitaro Matsuo
  233. Department of Epidemiology, Nagoya University Graduate School of Medicine, Nagoya, Japan.

    • Keitaro Matsuo
  234. Lyon Neuroscience Research Center–CRNL, INSERM U1028, CNRS UMR 5292, University of Lyon, Lyon, France.

    • Sylvie Mazoyer
  235. Anatomical Pathology, Alfred Hospital, Melbourne, Victoria, Australia.

    • Catriona McLean
  236. Department of Clinical Genetics, VU University Medical Centre, Amsterdam, the Netherlands.

    • Hanne Meijers-Heijboer
  237. Servicio de Anatomía Patológica, Hospital Monte Naranco, Oviedo, Spain.

    • Primitiva Menéndez
  238. Saw Swee Hock School of Public Health, National University of Singapore, Singapore.

    • Hui Miao
  239. NRG Oncology, Statistics and Data Management Center, Roswell Park Cancer Institute, Buffalo, New York, USA.

    • Austin Miller
  240. Institute of Population Health, University of Manchester, Manchester, UK.

    • Kenneth Muir
  241. Division of Health Sciences, Warwick Medical School, Warwick University, Coventry, UK.

    • Kenneth Muir
  242. Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.

    • Anna Marie Mulligan
  243. Laboratory Medicine Program, University Health Network, Toronto, Ontario, Canada.

    • Anna Marie Mulligan
  244. Université Paris Sorbonne Cité, INSERM UMRS 1147, Paris, France.

    • Claire Mulot
  245. Department of Gynecology and Obstetrics, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.

    • Dieter Niederacher
  246. Department of Medicine, University of California, San Francisco,San Francisco, California, USA.

    • Robert L Nussbaum
  247. Center for Clinical Cancer Genetics and Global Health, University of Chicago, Chicago, Illinois, USA.

    • Olufunmilayo I Olopade
  248. West Midlands Regional Genetics Service, Birmingham Women's Hospital Healthcare NHS Trust, Edgbaston, Birmingham, UK.

    • Kai-ren Ong
  249. Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.

    • Jan C Oosterwijk
  250. University of New Mexico Health Sciences Center, University of New Mexico, Albuquerque, New Mexico, USA.

    • V Shane Pankratz
  251. Unit of Medical Genetics, Department of Biomedical, Experimental and Clinical Sciences, University of Florence, Florence, Italy.

    • Laura Papi
  252. Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.

    • Ylva Paulsson-Karlsson
  253. Curtin UWA Centre for Genetic Origins of Health and Disease, Curtin University and University of Western Australia, Perth, Western Australia, Australia.

    • Rachel Lloyd
    •  & Jennifer Stone
  254. Section of Molecular Diagnostics, Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark.

    • Inge Søkilde Pedersen
  255. Department of Genetics, Portuguese Oncology Institute, Porto, Portugal.

    • Ana Peixoto
    •  & Manuel R Teixeira
  256. Servicio de Cirugía General y Especialidades, Hospital Monte Naranco, Oviedo, Spain.

    • Jose I A Perez
  257. IFOM, FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology, Milan, Italy.

    • Paolo Peterlongo
  258. Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, Florida, USA.

    • Catherine M Phelan
  259. South East of Scotland Regional Genetics Service, Western General Hospital, Edinburgh, UK.

    • Mary E Porteous
  260. ProCURE, Catalan Institute of Oncology, IDIBELL (Bellvitge Biomedical Research Institute), Barcelona, Spain.

    • Miquel Angel Pujana
  261. Laboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit, Biocenter Oulu, University of Oulu, Oulu, Finland.

    • Katri Pylkäs
    •  & Robert Winqvist
  262. Laboratory of Cancer Genetics and Tumor Biology, Northern Finland Laboratory Centre Oulu, Oulu, Finland.

    • Katri Pylkäs
    •  & Robert Winqvist
  263. Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico), Istituto Nazionale dei Tumori (INT), Milan, Italy.

    • Paolo Radice
  264. Section of Cancer Genetics, The Institute of Cancer Research, London, UK.

    • Nazneen Rahman
    •  & Sheila Seal
  265. Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.

    • Johanna Rantala
  266. Carmel Medical Center and B. Rappaport Faculty of Medicine-Technion, Haifa, Israel.

    • Gad Rennert
    •  & Hedy S Rennert
  267. Brigham and Women's Hospital, Dana-Farber Cancer Institute, Boston, Massachusetts, USA.

    • Andrea Richardson
  268. Division of Gynecologic Oncology, NorthShore University HealthSystem, University of Chicago, Evanston, Illinois, USA.

    • Gustavo C Rodriguez
  269. Medical Oncology Department, Hospital Universitario Puerta de Hierro, Madrid, Spain.

    • Atocha Romero
  270. Department of Epidemiology, Netherlands Cancer Institute, Amsterdam, the Netherlands.

    • Matti A Rookus
  271. Institute of Pathology, Staedtisches Klinikum Karlsruhe, Karlsruhe, Germany.

    • Thomas Ruediger
  272. Hereditary Cancer Clinic, University Hospital of Heraklion, Heraklion, Greece.

    • Emmanouil Saloustros
  273. Department of Pathology, Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands.

    • Joyce Sanders
    •  & Jelle Wesseling
  274. Epidemiology Branch, National Institute of Environmental Health Sciences, US National Institutes of Health, Research Triangle Park, North Carolina, USA.

    • Dale P Sandler
    •  & Jack A Taylor
  275. National Cancer Institute, Bangkok, Thailand.

    • Suleeporn Sangrajrang
  276. Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, Ohio, USA.

    • Elinor J Sawyer
  277. Research Oncology, Guy's Hospital, King's College London, London, UK.

    • Fredrick Schumacher
  278. Division of Molecular Medicine, Pathology North, John Hunter Hospital, Newcastle, New South Wales, Australia.

    • Rodney J Scott
  279. Discipline of Medical Genetics, School of Biomedical Sciences and Pharmacy, Faculty of Health, University of Newcastle, Callaghan, New South Wales, Australia.

    • Rodney J Scott
  280. Clinical Cancer Genetics Program, Division of Human Genetics, Department of Internal Medicine, Comprehensive Cancer Center, Ohio State University, Columbus, Ohio, USA.

    • Leigha Senter
  281. Department of Internal Medicine, University of Kansas Medical Center, Kansas City, Kansas, USA.

    • Priyanka Sharma
  282. School of Public Health, China Medical University, Taichung, Taiwan.

    • Chen-Yang Shen
  283. Taiwan Biobank, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.

    • Chen-Yang Shen
  284. North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, UK.

    • Lucy E Side
  285. National Center for Tumor Diseases, University of Heidelberg, Heidelberg, Germany.

    • Christof Sohn
  286. Department of Pathology, University of Melbourne, Melbourne, Victoria, Australia.

    • Melissa C Southey
  287. Cancer Control Research, BC Cancer Agency, Vancouver, British Columbia, Canada.

    • John J Spinelli
  288. School of Population and Public Health, University of British Columbia, Vancouver, British Columbia, Canada.

    • John J Spinelli
  289. Saarland Cancer Registry, Saarbrücken, Germany.

    • Christa Stegmaier
  290. Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.

    • Christian Sutter
  291. Division of Breast Cancer Research, The Institute of Cancer Research, London, UK.

    • Anthony Swerdlow
  292. National Human Genome Research Institute, US National Institutes of Health, Bethesda, Maryland, USA.

    • Csilla I Szabo
  293. Epigenetic and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, US National Institutes of Health, Research Triangle Park, North Carolina, USA.

    • Jack A Taylor
  294. Molecular Genetics Laboratory, Clinical Genetics Service, Cruces University Hospital and BioCruces Health Research Institute, Barakaldo, Spain.

    • Maria-Isabel Tejada
  295. Cancer Center, Kuopio University Hospital, Kuopio, Finland.

    • Maria Tengström
  296. Institute of Clinical Medicine, Oncology, University of Eastern Finland, Kuopio, Finland.

    • Maria Tengström
  297. Cancer Research Malaysia, Subang Jaya, Malaysia.

    • Soo H Teo
  298. Breast Cancer Research Unit, Cancer Research Institute, University Malaya Medical Centre, Kuala Lumpur, Malaysia.

    • Soo H Teo
  299. Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York, USA.

    • Mary B Terry
  300. Genetic Counseling Unit, Hereditary Cancer Program, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, Barcelona, Spain.

    • Alex Teulé
  301. Magee-Womens Hospital, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.

    • Darcy L Thull
  302. Ospedale di Circolo ASST Settelaghi, Varese, Italy.

    • Maria Grazia Tibiletti
    •  & Kristin K Zorn
  303. Latvian Biomedical Research and Study Centre, Riga, Latvia.

    • Laima Tihomirova
  304. Department of Medical Genetics, Addenbrooke's Treatment Centre, Addenbrooke's Hospital, Cambridge, UK.

    • Marc Tischkowitz
  305. Department of Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center, Ohio State University, Columbus, Ohio, USA.

    • Amanda E Toland
  306. Department of Surgery, Leiden University Medical Center, Leiden, the Netherlands.

    • Rob A E M Tollenaar
  307. Wellcome Trust Centre for Human Genetics and Oxford NIHR Biomedical Research Centre, University of Oxford, Oxford, UK.

    • Ian Tomlinson
  308. Institute of Human Genetics, Pontificia Universidad Javeriana, Bogotá, Colombia.

    • Diana Torres
  309. Hereditary Cancer Clinic, Department of Medical Oncology, Prince of Wales Hospital, Randwick, New South Wales, Australia.

    • Kathy Tucker
  310. Department of Medical Oncology, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA.

    • Nadine Tung
  311. Frauenklinik der Stadtklinik Baden Baden, Baden Baden, Germany.

    • Hans-Ulrich Ulmer
  312. Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.

    • Christi J van Asperen
  313. Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands.

    • Ans M W van den Ouweland
    •  & Juul T Wijnen
  314. Unit of Hereditary Cancer, Department of Epidemiology, Prevention and Special Functions, IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) AOU San Martino, IST Istituto Nazionale per la Ricerca sul Cancro, Genoa, Italy.

    • Liliana Varesco
  315. Institute of Human Genetics, Campus Virchov Klinikum, Charite Berlin, Berlin, Germany.

    • Raymonda Varon-Mateeva
  316. Fundación Pública Galega de Medicina Xenómica, Servizo Galego de Saúde SERGAS, Instituto de Investigaciones Sanitarias (IDIS), Santiago de Compostela, Spain.

    • Ana Vega
  317. Grupo de Medicina Xenómica, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Universidade de Santiago de Compostela, Santiago de Compostela, Spain.

    • Ana Vega
  318. Unit of Functional Onco-genomics and Genetics, CRO Aviano, National Cancer Institute, Aviano, Italy.

    • Alessandra Viel
  319. Oxford Regional Genetics Service, Churchill Hospital, Oxford, UK.

    • Lisa Walker
  320. Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.

    • Zhaoming Wang
  321. Biostatistics and Computational Biology Branch, National Institute of Environmental Health Sciences, US National Institutes of Health, Research Triangle Park, North Carolina, USA.

    • Clarice R Weinberg
  322. Department of Biomedical Data Sciences, Stanford University School of Medicine, Stanford, California, USA.

    • Alice S Whittemore
  323. Department of Nutrition, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA.

    • Walter Willett
  324. Department of Medicine, Institute for Human Genetics, UCSF Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, California, USA.

    • Elad Ziv
  325. Biomedical Sciences Institute (ICBAS), University of Porto, Porto, Portugal.

    • Manuel R Teixeira
  326. Department of Obstetrics and Gynaecology, University of Melbourne and the Royal Women's Hospital, Melbourne, Victoria, Australia.

    • Jennifer Stone
  327. Clinical Genetics Research Laboratory, Cancer Biology and Genetics Program, Memorial Sloan Kettering Cancer Center, New York, New York, USA.

    • Kenneth Offit
  328. Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.

    • Kenneth Offit
  329. Department of Molecular Medicine, University La Sapienza, Rome, Italy.

    • Laura Ottini
  330. Department of Oncology, South General Hospital, Stockholm, Sweden.

    • Per Hall
  331. Division of Gynaecology and Obstetrics, Technische Universität München, Munich, Germany.

    • Alfons Meindl
  332. Division of Psychosocial Research and Epidemiology, Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands.

    • Marjanka K Schmidt

Consortia

  1. ABCTB Investigators

    A list of members and affiliations appears in the Supplementary Note.

  2. EMBRACE

    A list of members and affiliations appears in the Supplementary Note.

  3. GEMO Study Collaborators

    A list of members and affiliations appears in the Supplementary Note.

  4. HEBON

    A list of members and affiliations appears in the Supplementary Note.

  5. kConFab/AOCS Investigators

    A list of members and affiliations appears in the Supplementary Note.

  6. NBSC Collaborators

    A list of members and affiliations appears in the Supplementary Note.

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Contributions

Writing group: R.L.M., K.B.K., K. Michailidou, J. Beesley, S. Kar, S. Lindström, S. Hui, G.D.B., P.D.P.P., F.J.C., D.F.E., P.K., G.C.-T., M.G.-C., M.K.S., A.C.A., J. Simard. Conception and coordination of OncoArray synthesis: D.F.E., A.C.A., J. Simard, C.I.A., J. Byun, S.J.C., E.D., D.J.H., A. Lee, P.D.P.P., J.T., Z.W. OncoArray genotyping: M.A., A.C.A., S.E.B., M.K.B., F.B., G.C.-T., J.M.C., K.F.D., D.F.E., N. Hammell, B. Hicks, K.J., C. Luccarini, L.M., J.M., E.P., J. Romm, M.K.S., X.S., J. Simard, P. Soucy, D.C.T., D.V., J. Vollenweider, L.X., B.Z. OncoArray genotype calling and quality control: X.C., J.D., E.D., D.F.E., K.B.K., J. Lecarpentier, A. Lee, M. Lush. Database management: D. Barrowdale, M.K.B., M.L., L.M., Q.W., R. Keeman, M.K.S. Statistical analysis: K.B.K., K. Michailidou, S. Hui, S. Kar, X.J., A. Rostamianfar, H. Finucane, S. Lindström, D. Barnes, P.K., P.D.P.P., G.D.B., R.L.M., A.C.A., D.F.E. Bioinformatic analysis: J. Beesley, P. Soucy, A. Lemaçon, D. Barnes, F.A.-E., A.D., J. Simard, G.C.-T. Provision of DNA samples and/or phenotypic data: ABCTB Investigators, C.M.A., J. Adlard, S. Agata, S. Ahmed, H.A., J. Allen, K.A., C.B.A., I.L.A., H.A.-C., N.N.A., A.C.A., V.A., N.A., K.J.A., B.A., P.L.A., M.G.E.M.A., J. Azzollini, J. Balmaña, M. Barile, L. Barjhoux, R.B.B., M. Barrdahl, D. Barnes, D. Barrowdale, C. Baynes, M.W.B., J. Beesley, J. Benitez, M. Bermisheva, L. Bernstein, Y.-J.B., K.R.B., M.J.B., C. Blomqvist, W.B., K.B., B. Boeckx, N.V.B., A. Bojesen, S.E.B., M.K.B., B. Bonanni, A. Bozsik, A.R.B., J.S.B., H. Brauch, H. Brenner, B.B.-d.P., C. Brewer, L. Brinton, P.B., A.B.-W., J. Brunet, T.B., B. Burwinkel, S.S.B., A.-L.B.-D., Q.C., T. Caldés, M.A.C., I. Campbell, F.C., O.C., A. Carracedo, B.D.C., J.E.C., L.C., V.C.-M., S.B.C., J.C.-C., S.J.C., X.C., G.C.-T., T.-Y.D.C., J. Chiquette, H.C., K.B.M.C., C.L.C., NBSS Collaborators, T. Conner, D.M.C., J. Cook, E.C.-D., S.C., F.J.C., I. Coupier, D.G.C., A. Cox, S.S.C., K. Cuk, K. Czene, M.B.D., F.D., H.D., R.D., J.D., P.D., O.D., Y.C.D., N.D., S.M.D., C.M.D., S.D., P.-A.D., M. Dumont, A.M.D., L.D., M. Dwek, B.D., T.D., EMBRACE, D.F.E., D.E., R.E., H. Ehrencrona, U.E., B.E., A.B.E., A.H.E., C.E., M.E., L. Fachal, L. Faivre, P.A.F., U.F., J.F., D.F.-J., O.F., H. Flyger, W.D.F., E.F., L. Fritschi, D.F., GEMO Study Collaborators, M. Gabrielson, P. Gaddam, M.D.G., M.G.-D., P.A.G., S.M.G., J. Garber, V.G.-B., M.G.-C., J.A.G.-S., M.M.G., M.G.-V., A. Gehrig, V.G., A.-M.G., G.G.G., G.G., A.K.G., M.S.G., D.E.G., A.G.-N., P. Goodfellow, M.H.G., G.I.G.A., M. Grip, J. Gronwald, A. Grundy, D.G.-K., Q.G., P. Guénel, HEBON, L.H., E. Hahnen, C.A.H., P. Hall, E. Hallberg, U.H., S. Hankinson, T.V.O.H., P. Harrington, S.N.H., J.M.H., C.S.H., A. Hein, S. Helbig, A. Henderson, J.H., P. Hillemanns, S. Hodgson, F.B.H., A. Hollestelle, M.J.H., B. Hoover, J.L.H., C.H., G.H., P.J.H., K.H., D.J.H., N. Håkansson, E.N.I., C.I., M.I., L.I., A.J., P.J., R.J., W.J., U.B.J., E.M.J., N.J., M.J., A.J.-V., R. Kaaks, M. Kabisch, K. Kaczmarek, D.K., K. Kast, R. Keeman, M.J.K., C.M.K., M. Keupers, S. Khan, E.K., J.I.K., J.A.K., I.K., V.-M.K., S.-W.K., P.K., V.N.K., T.A.K., K.B.K., A.K., Y.L., F. Lalloo, K.L., D.L., C. Lasset, C. Lazaro, L.l.M., J. Lecarpentier, M. Lee, A. Lee, E.L., J. Lee, F. Lejbkowicz, F. Lesueur, J. Li, J. Lilyquist, A. Lincoln, A. Lindblom, S. Lindström, J. Lissowska, W.-Y.L., S. Loibl, J. Long, J.T.L., J. Lubinski, C. Luccarini, M. Lush, A.-V.L., R.J.M., T.M., E.M., K.E.M., I.M.K., A. Mannermaa, S. Manoukian, J.E.M., S. Margolin, J.W.M.M., M.E.M., K. Matsuo, D.M., S. Mazoyer, L.M., C. McLean, H.M.-H., A. Meindl, P.M., H.M., K. Michailidou, A. Miller, N.M., R.L.M., G.M., M.M., K. Muir, A.M.M., C. Mulot, S.N., K.L.N., S.L.N., H.N., I.N., D.N., S.F.N., B.G.N., A.N., R.L.N., K. Offit, E.O., O.I.O., J.E.O., H.O., C.O., K. Ong, J.C.O., N.O., A.O., L.O., V.S.P., L.P., S.K.P., T.-W.P.-S., Y.P.-K., R.L., I.S.P., B. Peissel, A.P., J.I.A.P., P.P., J.P., G.P., P.D.P.P., C.M.P., M.P., D.P.-K., B. Poppe, M.E.P., R.P., N.P., D.P., M.A.P., K.P., B.R., P.R., N.R., J. Rantala, C.R.-F., H.S.R., G.R., V.R., K.R., A. Richardson, G.C.R., A. Romero, M.A.R., A. Rudolph, T.R., E.S., J. Sanders, D.P.S., S. Sangrajrang, E.J.S., D.F.S., M.K.S., R.K.S., M.J. Schoemaker, F.S., L. Schwentner, P. Schürmann, C. Scott, R.J.S., S. Seal, L. Senter, C. Seynaeve, M.S., P. Sharma, C.-Y.S., H. Shimelis, M.J. Shrubsole, X.-O.S., L.E.S., J. Simard, C.F.S., C. Sohn, P. Soucy, M.C.S., J.J.S., A.B.S., C. Stegmaier, J. Stone, D.S.-L., G.S., H. Surowy, C. Sutter, A.S., C.I.S., R.M.T., Y.Y.T., J.A.T., M.R.T., M.-I.T., L. Tong, M. Tengström, S.H.T., M.B.T., A.T., M. Thomassen, D.L.T., K. Thöne, M.G.T., L. Tihomirova, M. Tischkowitz, A.E.T., R.A.E.M.T., I.T., D.T., M. Tranchant, T.T., K. Tucker, N.T., H.-U.U., C.V., D.v.d.B., L.V., R.V.-M., A. Vega, A. Viel, J. Vijai, L.W., Q.W., S.W.-G., B.W., C.R.W., J.N.W., C.W., J.W., A.S.W., J.T.W., W.W., R.W., A.W., A.H.W., X.R.Y., D.Y., D.Z., W.Z., A.Z., E.Z., K.K.Z., I.d.-S.-S., kConFab AOCS Investigators, C.J.v.A., E.v.R., A.M.W.v.d.O. All authors read and approved the final version of the manuscript.

Competing interests

The authors declare no competing financial interests.

Corresponding author

Correspondence to Roger L Milne.

Integrated supplementary information

Supplementary figures

  1. 1.

    Manhattan plot of associations with breast cancer risk for all imputed and genotyped SNPs using combined data from ER-negative cases and controls and BRCA1 mutation carriers, before excluding known breast cancer susceptibility loci.

  2. 2.

    Manhattan plot of associations with breast cancer risk for all imputed and genotyped SNPs using combined data from ER-negative cases and controls and BRCA1 mutation carriers, after excluding known breast cancer susceptibility loci.

  3. 3.

    Quantile–quantile plot of associations with breast cancer risk for all imputed and genotyped SNPs using combined data from ER-negative cases and controls and BRCA1 mutation carriers.

  4. 4.

    Genomic region around the ER-negative risk-associated variant 2_24739694_CT_T (rs200648189).

  5. 5.

    Genomic region around the ER-negative risk-associated variant 6_130349119_T_C (rs6569648).

  6. 6.

    Genomic region around the ER-negative risk-associated variant 8_170692_T_C (rs66823261).

  7. 7.

    Genomic region around the ER-negative risk-associated variant 8_124757661_C_T (rs17350191).

  8. 8.

    Genomic region around the ER-negative risk-associated variant 16_4106788_C_A (rs11076805).

  9. 9.

    Genomic region around the ER-negative risk-associated variant 18_25401204_A_AT (rs36194942).

  10. 10.

    Genomic region around the ER-negative risk-associated variant 19_11423703_C_G (rs322144).

  11. 11.

    Genomic region around the ER-negative risk-associated variant 19_30277729_C_T (rs113701136).

  12. 12.

    Regional eQTL association plot for all variants within 1 Mb of L3MTBL3 and expression of L3MTBL3.

  13. 13.

    Regional eQTL association plot for all variants within 1 Mb of CDH2 and expression of CDH2.

  14. 14.

    Enrichment map for pathways enriched in susceptibility to ER-negative breast cancer.

  15. 15.

    Enrichment map of the adenylate cyclase theme, enriched in susceptibility to ER-negative breast cancer.

Supplementary information

PDF files

  1. 1.

    Supplementary Text and Figures

    Supplementary Figures 1–15 and Supplementary Note

Excel files

  1. 1.

    Supplementary Table 1

    BCAC studies contributing data on estrogen-receptor-negative cases and controls, by genotyping initiative.

  2. 2.

    Supplementary Table 2

    CIMBA studies contributing data on BRCA1 mutation carriers, by genotyping initiative.

  3. 3.

    Supplementary Table 3

    Ten novel loci associated with risk of estrogen receptor (ER)-negative breast cancer using meta-analysis of BCAC and CIMBA data, by genotyping initiative.

  4. 4.

    Supplementary Table 4

    Results for the two novel ER-negative susceptibility loci at 11q22.3.

  5. 5.

    Supplementary Table 5

    Summary information from bioinformatic and eQTL analyses.

  6. 6.

    Supplementary Table 6

    Data sources for in silico analyses of the ten novel ER-negative breast cancer susceptibility loci.

  7. 7.

    Supplementary Table 7

    Associations for ten novel and ten previously reported (and replicated) loci.

  8. 8.

    Supplementary Table 8

    Associations for ten novel and ten previously reported (and replicated) loci.

  9. 9.

    Supplementary Table 9

    Novel overall breast cancer susceptibility loci from Michailidou et al. (2016): associations with risk of ER-negative breast cancer and breast cancer for BRCA1 mutation carriers.

  10. 10.

    Supplementary Table 10

    Other previously reported (non-ER-negative disease–specific) breast cancer susceptibility loci: associations with risk of ER-negative breast cancer and breast cancer for BRCA1 mutation carriers.

  11. 11.

    Supplementary Table 11

    Associations of 179 breast cancer susceptibility loci with risk for BRCA2 mutation carriers.

  12. 12.