Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
Jazyk angličtina Země Anglie, Velká Británie Médium electronic
Typ dokumentu adaptivní klinické zkoušky, časopisecké články, Research Support, N.I.H., Extramural, práce podpořená grantem
Grantová podpora
R01 CA140323
NCI NIH HHS - United States
U01 CA116167
NCI NIH HHS - United States
U19 CA148112
NCI NIH HHS - United States
U10 CA180868
NCI NIH HHS - United States
U01 CA069417
NCI NIH HHS - United States
R01 CA050385
NCI NIH HHS - United States
G0501974
Medical Research Council - United Kingdom
UG1 CA189867
NCI NIH HHS - United States
R01 CA176785
NCI NIH HHS - United States
N01 PC067010
NCI NIH HHS - United States
RC4 CA153828
NCI NIH HHS - United States
P30 CA016056
NCI NIH HHS - United States
R01 CA087538
NCI NIH HHS - United States
U10 CA101165
NCI NIH HHS - United States
R01 CA142996
NCI NIH HHS - United States
R01 CA136924
NCI NIH HHS - United States
P50 CA125183
NCI NIH HHS - United States
UM1 CA164920
NCI NIH HHS - United States
R01 CA106414
NCI NIH HHS - United States
11174
Cancer Research UK - United Kingdom
R01 CA067262
NCI NIH HHS - United States
P30 CA046592
NCI NIH HHS - United States
UL1 TR001863
NCATS NIH HHS - United States
P30 CA168524
NCI NIH HHS - United States
U01 CA161032
NCI NIH HHS - United States
R37 CA070867
NCI NIH HHS - United States
K99 CA184415
NCI NIH HHS - United States
R03 CA113148
NCI NIH HHS - United States
16565
Cancer Research UK - United Kingdom
R01 CA058598
NCI NIH HHS - United States
R01 CA092447
NCI NIH HHS - United States
K22 CA138563
NCI NIH HHS - United States
R01 CA058860
NCI NIH HHS - United States
R01 CA080742
NCI NIH HHS - United States
20861
Cancer Research UK - United Kingdom
U10 CA027469
NCI NIH HHS - United States
16459
Cancer Research UK - United Kingdom
R01 CA074850
NCI NIH HHS - United States
R01 CA063678
NCI NIH HHS - United States
UL1 TR000124
NCATS NIH HHS - United States
K07 CA092044
NCI NIH HHS - United States
R00 CA184415
NCI NIH HHS - United States
P50 CA105009
NCI NIH HHS - United States
R01 CA100374
NCI NIH HHS - United States
P30 CA008748
NCI NIH HHS - United States
R01 CA128978
NCI NIH HHS - United States
N02 CP011019
NCI NIH HHS - United States
N02 CP065504
NCI NIH HHS - United States
R01 CA083855
NCI NIH HHS - United States
P30 CA076292
NCI NIH HHS - United States
R01 CA064277
NCI NIH HHS - United States
P30 CA014089
NCI NIH HHS - United States
U19 CA148537
NCI NIH HHS - United States
P30 CA051008
NCI NIH HHS - United States
R01 CA116167
NCI NIH HHS - United States
R01 CA148667
NCI NIH HHS - United States
R01 CA083918
NCI NIH HHS - United States
P50 CA116201
NCI NIH HHS - United States
U01 CA113916
NCI NIH HHS - United States
R03 CA115195
NCI NIH HHS - United States
U10 CA037517
NCI NIH HHS - United States
R01 CA054419
NCI NIH HHS - United States
R01 CA122443
NCI NIH HHS - United States
P30 CA015083
NCI NIH HHS - United States
R01 CA076016
NCI NIH HHS - United States
R01 CA077398
NCI NIH HHS - United States
K07 CA143047
NCI NIH HHS - United States
P30 CA068485
NCI NIH HHS - United States
R01 CA087696
NCI NIH HHS - United States
R01 CA102776
NCI NIH HHS - United States
R01 CA149429
NCI NIH HHS - United States
P01 CA017054
NCI NIH HHS - United States
N01 CN025403
NCI NIH HHS - United States
U19 CA148065
NCI NIH HHS - United States
10119
Cancer Research UK - United Kingdom
Wellcome Trust - United Kingdom
R01 CA049449
NCI NIH HHS - United States
R01 CA063682
NCI NIH HHS - United States
UM1 CA182910
NCI NIH HHS - United States
K07 CA095666
NCI NIH HHS - United States
10118
Cancer Research UK - United Kingdom
R01 CA112523
NCI NIH HHS - United States
P30 CA006927
NCI NIH HHS - United States
P50 CA136393
NCI NIH HHS - United States
U10 CA180822
NCI NIH HHS - United States
001
World Health Organization - International
R01 CA126841
NCI NIH HHS - United States
R01 CA114343
NCI NIH HHS - United States
16561
Cancer Research UK - United Kingdom
10124
Cancer Research UK - United Kingdom
N01 PC035137
NCI NIH HHS - United States
PubMed
27601076
PubMed Central
PMC5023955
DOI
10.1038/ncomms12675
PII: ncomms12675
Knihovny.cz E-zdroje
- MeSH
- alely * MeSH
- Asijci genetika MeSH
- celogenomová asociační studie MeSH
- černoši genetika MeSH
- genetická predispozice k nemoci * MeSH
- genotyp MeSH
- jednonukleotidový polymorfismus * MeSH
- lidé MeSH
- lidské chromozomy, pár 19 genetika MeSH
- messenger RNA genetika metabolismus MeSH
- nádory prsu genetika MeSH
- nádory vaječníků genetika MeSH
- Check Tag
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- adaptivní klinické zkoušky MeSH
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
- Názvy látek
- messenger RNA MeSH
A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10(-20)), ER-negative BC (P=1.1 × 10(-13)), BRCA1-associated BC (P=7.7 × 10(-16)) and triple negative BC (P-diff=2 × 10(-5)). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10(-3)) and ABHD8 (P<2 × 10(-3)). Chromosome conformation capture identifies interactions between four candidate SNPs and ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 promoter. Targeted deletion of a region containing risk SNP rs56069439 in a putative enhancer induces ANKLE1 downregulation; and mRNA stability assays indicate functional effects for an ANKLE1 3'-UTR SNP. Altogether, these data suggest that multiple SNPs at 19p13 regulate ABHD8 and perhaps ANKLE1 expression, and indicate common mechanisms underlying breast and ovarian cancer risk.
Academic Unit of Pathology Department of Neuroscience University of Sheffield Sheffield S10 2TN UK
Anatomical Pathology The Alfred Hospital Melbourne Victoria 3004 Australia
Biomedical Network on Rare Diseases 28029 Madrid Spain
Biomedical Sciences Institute Porto University Porto 4099 002 Portugal
Breakthrough Breast Cancer Research Centre The Institute of Cancer Research London SW3 6JB UK
Cancer Center Kuopio University Hospital 70210 Kuopio Finland
Cancer Control and Population Sciences Duke Cancer Institute Durham North Carolina 27710 USA
Cancer Epidemiology Centre Cancer Council Victoria Melbourne Victoria 3004 Australia
Cancer Genetics Laboratory Peter MacCallum Cancer Centre Melbourne Victoria 3002 Australia
Cancer Research Initiatives Foundation Sime Darby Medical Centre 47500 Subang Jaya Malaysia
Cancer Research Initiatives Foundation Subang Jaya 47500 Selangor Malaysia
Cancer Research Institute Seoul National University Seoul 08826 Korea
Cancer Risk and Prevention Clinic Dana Farber Cancer Institute Boston Massachusetts 02215 USA
Center for Genomic Medicine Rigshospitalet Copenhagen University Hospital 2100 Copenhagen Denmark
Center for Integrated Oncology University Hospital of Cologne 50676 Cologne Germany
Center for Medical Genetics Ghent University Ghent 9000 Belgium
Center for Medical Genetics NorthShore University Health System Evanston Illinois 60201 USA
Center for Molecular Medicine University Hospital of Cologne 50676 Cologne Germany
Center of Familial Breast and Ovarian Cancer University Hospital of Cologne 50676 Cologne Germany
Centre for Epidemiology and Biostatistics University of Melbourne Melbourne Victoria 3010 Australia
Centro de Investigación en Red de Enfermedades Raras Valencia 28029 Spain
Department of Biomedical Sciences Seoul National University College of Medicine Seoul 03080 Korea
Department of Breast Surgery Herlev Hospital Copenhagen University Hospital 2730 Herlev Denmark
Department of Cancer Epidemiology Moffitt Cancer Center Tampa Florida 33606 USA
Department of Cancer Prevention and Control Roswell Park Cancer Institute Buffalo New York 14263 USA
Department of Clinical Genetics Erasmus University Medical Center 3015 CE Rotterdam The Netherlands
Department of Clinical Genetics Fox Chase Cancer Center Philadelphia Pennsylvania 19111 USA
Department of Clinical Genetics Karolinska University Hospital 171 76 Stockholm Sweden
Department of Clinical Genetics Lund University Hospital Lund 221 00 Sweden
Department of Clinical Genetics Odense University Hospital 5000 Odense C Denmark
Department of Clinical Genetics Vejle Hospital Vejle 7100 Denmark
Department of Epidemiology Cancer Prevention Institute of California Fremont California 94538 USA
Department of Epidemiology Harvard TH Chan School of Public Health Boston Massachusetts 02115 USA
Department of Epidemiology Mailman School of Public Health Columbia University New York 10027 USA
Department of Epidemiology University of Washington Seattle Washington 98109 USA
Department of Genetics and Pathology Pomeranian Medical University 70 204 Szczecin Poland
Department of Genetics and Pathology Pomeranian Medical University Szczecin 70 115 Poland
Department of Genetics Portuguese Oncology Institute Porto 4200 072 Portugal
Department of Genetics University of Pretoria Pretoria 0083 South Africa
Department of Gynaecology Radboud University Medical Centre 6500 Nijmegen The Netherlands
Department of Gynecological Oncology Roswell Park Cancer Institute Buffalo New York 14263 USA
Department of Gynecology and Gynecologic Oncology Kliniken Essen Mitte 45136 Essen Germany
Department of Gynecology and Obstetrics Haukeland University Hospital 5021 Bergen Norway
Department of Gynecology Rigshospitalet University of Copenhagen 2100 Copenhagen Denmark
Department of Health Sciences Research Mayo Clinic Rochester Minnesota 55902 USA
Department of Human Genetics Leiden University Medical Center Leiden 2333 The Netherlands
Department of Human Genetics Radboud University Medical Centre 6500 Nijmegen The Netherlands
Department of Immunology Genetics and Pathology Uppsala University Uppsala 751 05 Sweden
Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota 55905 USA
Department of Medical Oncology Beth Israel Deaconess Medical Center Boston Massachusetts 02215 USA
Department of Medicine and Genetics University of California San Francisco California 94143 USA
Department of Medicine McGill University Montreal Québec H3A 1A1 Canada
Department of Medicine Memorial Sloan Kettering Cancer Center New York 10065 USA
Department of Molecular Genetics National Institute of Oncology 1122 Budapest Hungary
Department of Molecular Genetics University of Toronto Toronto Ontario M5S 1A8 Canada
Department of Molecular Medicine and Surgery Karolinska Institutet SE 171 77 Stockholm Sweden
Department of Obstetrics and Gynecology University of Heidelberg Heidelberg 69120 Germany
Department of Oncology Karolinska University Hospital Stockholm 171 77 Sweden
Department of Oncology Pathology Karolinska Institutet SE 171 77 Stockholm Sweden
Department of Oncology Rigshospitalet Copenhagen University Hospital 2100 Copenhagen Denmark
Department of Pathology Helsinki University Central Hospital Helsinki 00029 Finland
Department of Pathology Leiden University Medical Center Leiden 2333 The Netherlands
Department of Pathology University of Melbourne Parkville Victoria 3010 Australia
Department of Preventive Medicine Seoul National University College of Medicine Seoul 08826 Korea
Department of Surgery National University Health System Singapore 119077 Singapore
Department of Surgery Seoul National University College of Medicine Seoul 03080 Korea
Department of Surgery The University of Hong Kong Hong Kong China
Department of Surgery Tri Service General Hospital National Defense Medical Center Taipei 114 Taiwan
Division of Breast Cancer Research The Institute of Cancer Research London SW7 3RP UK
Division of Cancer Epidemiology and Genetics National Cancer Institute Bethesda Maryland 20892 USA
Division of Cancer Epidemiology and Genetics National Cancer Institute Rockville Maryland 20892 USA
Division of Cancer Epidemiology German Cancer Research Center Heidelberg 69121 Germany
Division of Cancer Prevention and Genetics Istituto Europeo di Oncologia Milan 20141 Italy
Division of Epidemiology and Prevention Aichi Cancer Center Research Institute Aichi 464 8681 Japan
Division of Genetics and Epidemiology The Institute of Cancer Research London SW7 3RP UK
Division of Gynaecology and Obstetrics Technische Universität München 81675 Munich Germany
Division of Gynecologic Oncology NorthShore University HealthSystem Evanston Illinois 60201 USA
Division of Health Sciences Warwick Medical School Warwick University Coventry CV4 7AL UK
Division of Preventive Oncology German Cancer Research Center Heidelberg 69121 Germany
Dr Margarete Fischer Bosch Institute of Clinical Pharmacology Stuttgart D 70376 Germany
Faculty of Health and Medical Sciences University of Copenhagen Copenhagen 2200 Denmark
Family Cancer Clinic Netherlands Cancer Institute 1006 Amsterdam The Netherlands
German Cancer Consortium Heidelberg 69120 Germany
Gynaecology Research Unit Hannover Medical School Hannover D 30625 Germany
Gynecology Service Department of Surgery Memorial Sloan Kettering Cancer Center New York 10065 USA
Harvard HT Chan School of Public Health Boston Massachusetts 02115 USA
Human Cancer Genetics Program Spanish National Cancer Research Centre Madrid E 28029 Spain
Human Genetics Group Human Cancer Genetics Program Spanish National Cancer Centre 28019 Madrid Spain
IFOM The FIRC Institute of Molecular Oncology 16 20139 Milan Italy
Imaging Center Department of Clinical Pathology Kuopio University Hospital 70210 Kuopio Finland
Immunology and Molecular Oncology Unit Instituto Oncologico Veneto IOV IRCCS 35128 Padua Italy
Immunology and Molecular Oncology Unit Istituto Oncologico Veneto IOV IRCCS 64 35128 Padua Italy
Institute of Human Genetics Pontificia Universidad Javeriana Cra 7 40 62 Bogota Colombia
Institute of Population Health University of Manchester Manchester M13 9PL UK
International Agency for Research on Cancer Lyon 69008 France
International Epidemiology Institute Rockville Maryland 20850 USA
Knight Cancer Institute Oregon Health and Science University Portland Oregon 97239 USA
Laboratory Medicine Program University Health Network Toronto Ontario M5G 1L7 Canada
Latvian Biomedical Research and Study Centre Riga LV 1067 Latvia
Lombardi Comprehensive Cancer Center Georgetown University Washington District of Columbia 20057 USA
Lunenfeld Tanenbaum Research Institute of Mount Sinai Hospital Toronto Ontario M5G 1X5 Canada
Masaryk Memorial Cancer Institute and Medical Faculty MU 625 00 Brno Czech Republic
Medical College Xiamen University Xiamen 361102 China
Molecular Epidemiology Group German Cancer Research Center Heidelberg 69120 Germany
Molecular Genetics of Breast Cancer German Cancer Research Center Heidelberg 69120 Germany
Molecular Oncology Laboratory Hospital Clinico San Carlos IdISSC Madrid 28040 Spain
N N Petrov Institute of Oncology St Petersburg 197758 Russia
National Cancer Institute Bangkok 10400 Thailand
National Center for Tumour Diseases University of Heidelberg 69117 Heidelberg Germany
Netherlands Cancer Institute Antoni van Leeuwenhoek Hospital 1066 CX Amsterdam The Netherlands
QIMR Berghofer Medical Research Institute Brisbane Queensland 4029 Australia
Research Oncology Guy's Hospital King's College London London SE1 9RT UK
Saw Swee Hock School of Public Health National University of Singapore Singapore 119077 Singapore
School of Public Health China Medical University Taichung 404 Taiwan
Shanghai Center for Disease Control and Prevention Shanghai China
Sheffield Cancer Research Department of Oncology University of Sheffield Sheffield S10 2TN UK
State Research Institute Centre for Innovative Medicine LT 01102 Vilnius Lithuania
Susanne Levy Gertner Oncogenetics Unit Sheba Medical Center Tel Hashomer 52621 Israel
Taiwan Biobank Institute of Biomedical Sciences Academia Sinica Taipei 115 Taiwan
The Ohio State University and the James Cancer Center Columbus Ohio 43210 USA
The University of Texas School of Public Health Houston Texas 77030 USA
Université Paris Descartes Sorbonne Paris Cité 75270 Paris France
University Cancer Center Hamburg University Medical Center Hamburg Eppendorf Hamburg 20246 Germany
University of Hawaii Cancer Center Honolulu Hawaii 96813 USA
University of Texas MD Anderson Cancer Center Houston Texas 77030 USA
University of Tübingen Tübingen 72074 Germany
University Paris Sud 91405 Villejuif France
UO Anatomia Patologica Ospedale di Circolo Università dell'Insubria 21100 Varese Italy
Vesalius Research Center VIB 3000 Leuven Belgium
Women's Cancer UCL EGA Institute for Women's Health London WC1E 6AU UK
Zobrazit více v PubMed
Easton D. F. et al. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 447, 1087–1093 (2007). PubMed PMC
Ahmed S. et al. Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat. Genet. 41, 585–590 (2009). PubMed PMC
Ghoussaini M. et al. Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nat. Genet. 44, 312–318 (2012). PubMed PMC
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. 21, 5373–5384 (2012). PubMed PMC
Garcia-Closas M. et al. Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Nat. Genet. 45, 392–398 398e1-2 (2013). PubMed PMC
Michailidou K. et al. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat. Genet. 45, 353–361 361e1-2 (2013). PubMed PMC
Song H. et al. A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2. Nat. Genet. 41, 996–1000 (2009). PubMed PMC
Goode E. L. et al. A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24. Nat. Genet. 42, 874–879 (2010). PubMed PMC
Bolton K. L. et al. Common variants at 19p13 are associated with susceptibility to ovarian cancer. Nat. Genet. 42, 880–884 (2010). PubMed PMC
Bojesen S. E. 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 384e1-2 (2013). PubMed PMC
Permuth-Wey J. et al. Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31. Nat. Commun. 4, 1627 (2013). PubMed PMC
Pharoah P. D. et al. GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. Nat. Genet. 45, 362–370 370e1-2 (2013). PubMed PMC
Shen H. et al. Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer. Nat. Commun. 4, 1628 (2013). PubMed PMC
Ghoussaini M. et al. Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation. Nat. Commun. 4, 4999 (2014). PubMed PMC
Meyer K. B. 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). PubMed PMC
French J. D. 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). PubMed PMC
Orr N. et al. Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2. Hum. Mol. Genet. 24, 2966–2984 (2015). PubMed PMC
Glubb D. M. 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). PubMed PMC
Coetzee S. G. et al. Cell type specific enrichment of risk associated regulatory elements at ovarian cancer susceptibility loci. Hum. Mol. Genet. 24, 3595–3607 (2015). PubMed PMC
Hazelett D. J. et al. Comprehensive functional annotation of 77 prostate cancer risk loci. PLoS Genet. 10, e1004102 (2014). PubMed PMC
Cowper-Sal lari R. et al. Breast cancer risk-associated SNPs modulate the affinity of chromatin for FOXA1 and alter gene expression. Nat. Genet. 44, 1191–1198 (2012). PubMed PMC
Spisák S. et al. CAUSEL: an epigenome- and genome-editing pipeline for establishing function of noncoding GWAS variants. Nat. Med. 21, 1357–1363 (2015). PubMed PMC
Claussnitzer M. et al. FTO Obesity Variant Circuitry and Adipocyte Browning in Humans. N. Engl. J. Med. 373, 895–907 (2015). PubMed PMC
Antoniou A. C. 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). PubMed PMC
Couch F. J. et al. Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol. Biomarkers Prev. 21, 645–657 (2012). PubMed PMC
Stevens K. N. et al. 19p13.1 is a triple-negative-specific breast cancer susceptibility locus. Cancer Res. 72, 1795–1803 (2012). PubMed PMC
Kuchenbaecker K. B. et al. Identification of six new susceptibility loci for invasive epithelial ovarian cancer. Nat. Genet. 47, 164–171 (2015). PubMed PMC
Stevens K. N. et al. Common breast cancer susceptibility loci are associated with triple-negative breast cancer. Cancer Res. 71, 6240–6249 (2011). PubMed PMC
Curtis C. et al. The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups. Nature 486, 346–352 (2012). PubMed PMC
Network, C. G. A. R. Integrated genomic analyses of ovarian carcinoma. Nature 474, 609–615 (2011). PubMed PMC
Li Q. et al. Integrative eQTL-based analyses reveal the biology of breast cancer risk loci. Cell 152, 633–641 (2013). PubMed PMC
Lawrenson K. et al. Senescent fibroblasts promote neoplastic transformation of partially transformed ovarian epithelial cells in a three-dimensional model of early stage ovarian cancer. Neoplasia 12, 317–325 (2010). PubMed PMC
Mavaddat N. 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). PubMed PMC
Shao G. et al. MERIT40 controls BRCA1-Rap80 complex integrity and recruitment to DNA double-strand breaks. Genes Dev. 23, 740–754 (2009). PubMed PMC
Hu X. et al. NBA1/MERIT40 and BRE interaction is required for the integrity of two distinct deubiquitinating enzyme BRCC36-containing complexes. J. Biol. Chem. 286, 11734–11745 (2011). PubMed PMC
Stranger B. E. et al. Patterns of cis regulatory variation in diverse human populations. PLoS Genet. 8, e1002639 (2012). PubMed PMC
Sanyal A., Lajoie B.R., Jain G. & Dekker J. The long-range interaction landscape of gene promoters. Nature 489, 109–113 (2012). PubMed PMC
Thomas G., Brown A. L. & Brown J. M. PubMed PMC
Cheung H. W. et al. Systematic investigation of genetic vulnerabilities across cancer cell lines reveals lineage-specific dependencies in ovarian cancer. Proc. Natl Acad. Sci. USA 108, 12372–12377 (2011). PubMed PMC
Kar S. P. et al. Network-Based Integration of GWAS and Gene Expression Identifies a HOX-Centric Network Associated with Serous Ovarian Cancer Risk. Cancer Epidemiol. Biomarkers Prev. 24, 1574–1584 (2015). PubMed PMC
Seksenyan A. et al. TOX3 is expressed in mammary ER(+) epithelial cells and regulates ER target genes in luminal breast cancer. BMC Cancer 15, 22 (2015). PubMed PMC
Selvakumaran M., Pisarcik D. A., Bao R., Yeung A. T. & Hamilton T. C. Enhanced cisplatin cytotoxicity by disturbing the nucleotide excision repair pathway in ovarian cancer cell lines. Cancer Res. 63, 1311–1316 (2003). PubMed
Frankel N. et al. Phenotypic robustness conferred by apparently redundant transcriptional enhancers. Nature 466, 490–493 (2010). PubMed PMC
Michailidou K. et al. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat. Genet. 45, 353–361 361e1–2 (2013). PubMed PMC
Couch F.J. et al. Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet. 9, e1003212 (2013). PubMed PMC
Permuth-Wey J. et al. LIN28B polymorphisms influence susceptibility to epithelial ovarian cancer. Cancer Res. 71, 3896–3903 (2011). PubMed PMC
Chenevix-Trench G. et al. An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA). Breast Cancer Res. 9, 104 (2007). PubMed PMC
Antoniou A. C. 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). PubMed PMC
Barnes D. R., Lee A., Easton D. F. & Antoniou A. C. Evaluation of association methods for analysing modifiers of disease risk in carriers of high-risk mutations. Genet. Epidemiol. 36, 274–291 (2012). PubMed
Antoniou A. C. 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). PubMed
Mavaddat N. 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). PubMed PMC
Lakhani S. R. et al. The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2. J. Clin.Oncol. 20, 2310–2318 (2002). PubMed
Howie B. N., Donnelly P. & Marchini J. A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet. 5, e1000529 (2009). PubMed PMC
Baran Y. et al. Fast and accurate inference of local ancestry in Latino populations. Bioinformatics 28, 1359–1367 (2012). PubMed PMC
Shabalin A. A. Matrix eQTL: ultra fast eQTL analysis via large matrix operations. Bioinformatics 28, 1353–1358 (2012). PubMed PMC
Karst A. M. & Drapkin R. Primary culture and immortalization of human fallopian tube secretory epithelial cells. Nat. Protoc. 7, 1755–1764 (2012). PubMed PMC
Ran F. A. et al. Genome engineering using the CRISPR-Cas9 system. Nat. Protoc. 8, 2281–2308 (2013). PubMed PMC
Wang B., Hurov K., Hofmann K. & Elledge S. J. NBA1, a new player in the Brca1 A complex, is required for DNA damage resistance and checkpoint control. Genes Dev. 23, 729–739 (2009). PubMed PMC
Lawrenson K. et al. Modelling genetic and clinical heterogeneity in epithelial ovarian cancers. Carcinogenesis 32, 1540–1549 (2011). PubMed
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes