Epidemiological study of BRCA1 & BRCA2 mutation carriers (EMBRACE) Douglas F. Easton is the PI of the study. EMBRACE Collaborating Centres are: Coordinating Centre, Deutsches Krebsforschungszentrum (DKFZ) study The DKFZ study was supported by the DKFZ Medical Genetics Services for Wales ,
South East Thames Regional Genetics Service, Guy's Hospital London: Louise Izatt, Chris Jacobs, Caroline Langman. North West Thames Regional Genetics Service, Harrow: Huw Dorkins, Leicestershire Clinical Genetics Service Yorkshire Regional Genetics Service Gemma Serra-Feliu. Cheshire & Merseyside Clinical Genetics Service Manchester Regional Genetics Service Nottingham Centre for Medical Genetics Northern Clinical Genetics Service ,
The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, Oxford Regional Genetics Service ,
Lalloo are supported by an NIHR grant to the Biomedical Research Centre, Manchester. The Investigators at The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust are supported by an NIHR grant to the Biomedical Research Centre at The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust ,
Coordinating center: Netherlands Cancer Institute, The Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON) HEBON Collaborating Centres: M.J. Ligtenberg, N ,
The HEBON study is supported by the Dutch Cancer Society grants NKI1998-1854, NKI2004-3088, NKI2007-3756 and the ZonMW grant 91109024 Helsinki Breast Cancer Study (HEBCS) HEBCS acknowledge Drs Kristiina Aittomäki, Kirsimari Aaltonen and Carl Blomqvist and Tuomas Heikkinen and research nurse Irja Erkkilä for their help with the patient data and samples. The HEBCS study has been financially supported by the Helsinki University Central Hospital Research Fund, Academy of Finland (132473), the Finnish Cancer Society, and the Sigrid Juselius Foundation. ICO Contract grant sponsor: Asociación Española Contra el Cáncer, Spanish Health Research Fund; Carlos III Health Institute; Catalan Health Institute and Autonomous Government of Catalonia Contract grant numbers: ISCIIIRETIC RD06/0020, and Population Health Division, Queensland Institute of Medical Research Herston Rd, vol.300, issue.5 6 7 10 11, 1051. ,
KBK performed the statistical analysis ACA supervised the statistical analysis and data management. ACA, GCT and DFE developed the study design. LM and DB are the CIMBA database managers. AL wrote computer programs for the analysis. SH and OMS reviewed, recoded and classified the BRCA1 and BRCA2 mutations in CIMBA, GCT initiated and coordinates CIMBA. PS, JB, XC and YCD performed the genotyping. AJ, SLN, GCT and JS supervised the genotyping of samples ,
Average Risks of Breast and Ovarian Cancer Associated with BRCA1 or BRCA2 Mutations Detected in Case Series Unselected for Family History: A Combined Analysis of 22 Studies, The American Journal of Human Genetics, vol.72, issue.5, pp.1117-1130, 2003. ,
DOI : 10.1086/375033
Variation of Breast Cancer Risk Among BRCA1/2 Carriers, JAMA, vol.299, issue.2, pp.194-201, 2008. ,
DOI : 10.1001/jama.2007.55-a
Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers, The American Journal of Human Genetics, vol.82, issue.4, pp.937-948, 2008. ,
DOI : 10.1016/j.ajhg.2008.02.008
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers, Human Molecular Genetics, vol.18, issue.22, pp.4442-4456, 2009. ,
DOI : 10.1093/hmg/ddp372
Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction, Cancer Research, vol.70, issue.23, pp.9742-9754, 2010. ,
DOI : 10.1158/0008-5472.CAN-10-1907
Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers, Human Molecular Genetics, vol.20, issue.16, pp.3304-3321, 2011. ,
DOI : 10.1093/hmg/ddr226
URL : https://hal.archives-ouvertes.fr/hal-00771696
Association of the Variants CASP8 D302H and CASP10 V410I with Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers, Cancer Epidemiology Biomarkers & Prevention, vol.19, issue.11, pp.2859-2868, 2010. ,
DOI : 10.1158/1055-9965.EPI-10-0517
Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers, JNCI Journal of the National Cancer Institute, vol.103, issue.2, pp.105-116, 2010. ,
DOI : 10.1093/jnci/djq494
URL : https://hal.archives-ouvertes.fr/hal-00698417
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, Nature Genetics, vol.447, issue.10, pp.885-892, 2010. ,
DOI : 10.1002/gepi.1370050611
URL : https://hal.archives-ouvertes.fr/hal-00698376
Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer, PLoS Genetics, vol.6, issue.10, p.1001183, 2010. ,
DOI : 10.1371/journal.pgen.1001183.s008
Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers, Human Molecular Genetics, vol.20, issue.23, pp.4732-4747, 2011. ,
DOI : 10.1093/hmg/ddr388
URL : https://hal.archives-ouvertes.fr/hal-00790211
Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium, Human Molecular Genetics, vol.20, issue.16, pp.3289-3303, 2011. ,
DOI : 10.1093/hmg/ddr228
Heterogeneity of Breast Cancer Associations with Five Susceptibility Loci by Clinical and Pathological Characteristics, PLoS Genetics, vol.4, issue.4, p.1000054, 2008. ,
DOI : 10.1371/journal.pgen.1000054.s016
Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2, Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1, p.110, 2011. ,
DOI : 10.1371/journal.pgen.1001183
URL : https://hal.archives-ouvertes.fr/inserm-00670601
Genome-wide association study identifies five new breast cancer susceptibility loci, Nature Genetics, vol.447, issue.6, pp.504-507, 2010. ,
DOI : 10.1093/bioinformatics/btm108
Genome-wide association analysis identifies three new breast cancer susceptibility loci, Nature Genetics, vol.52, issue.3, 2012. ,
DOI : 10.1186/1471-2105-11-134
URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3653403
Novel Breast Cancer Susceptibility Locus at 9q31.2: Results of a Genome-Wide Association Study, JNCI Journal of the National Cancer Institute, vol.103, issue.5, pp.425-435, 2011. ,
DOI : 10.1093/jnci/djq563
RAD51 135G???C Modifies Breast Cancer Risk among BRCA2 Mutation Carriers: Results from a Combined Analysis of 19 Studies, The American Journal of Human Genetics, vol.81, issue.6, pp.51-135, 2007. ,
DOI : 10.1086/522611
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 Research, vol.11, issue.2, p.104, 2007. ,
DOI : 10.1158/1078-0432.CCR-04-2424
Programs for pedigree analysis: Mendel, Fisher, and dGene, Genetic Epidemiology, vol.5, issue.6, pp.471-472, 1988. ,
DOI : 10.1002/gepi.1370050611
URL : https://deepblue.lib.umich.edu/bitstream/2027.42/101847/1/1370050611_ftp.pdf
Evaluation of association methods for analysing modiers of disease risk in carriers of high-risk mutations, Genet Epidemiol, 2011. ,
Mutations, New England Journal of Medicine, vol.357, issue.2, pp.115-123, 2007. ,
DOI : 10.1056/NEJMoa070608
The 185delAG mutation (c.68_69delAG) in theBRCA1 gene triggers translation reinitiation at a downstream AUG codon, Human Mutation, vol.16, issue.10, pp.1024-1029, 2006. ,
DOI : 10.1002/humu.20384
A BRCA1 Nonsense Mutation Causes Exon Skipping, The American Journal of Human Genetics, vol.62, issue.3, pp.713-715, 1998. ,
DOI : 10.1086/301768
The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons, Human Molecular Genetics, vol.11, issue.23, pp.2805-2814, 2002. ,
DOI : 10.1093/hmg/11.23.2805
Does the nonsense-mediated mRNA decay mechanism prevent the synthesis of truncated BRCA1, CHK2, and p53 proteins? Hum Mutat, pp.65-73, 2008. ,
The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions, British Journal of Cancer, vol.98, issue.8, pp.1457-1466, 2008. ,
DOI : 10.1136/jmg.2004.028829
On generalised score tests, Am Stat, vol.46, pp.327-333, 1992. ,
Common genetic variants and cancer risk in Mendelian cancer syndromes, Current Opinion in Genetics & Development, vol.20, issue.3, pp.299-307, 2010. ,
DOI : 10.1016/j.gde.2010.03.010
Common Breast Cancer Susceptibility Loci Are Associated with Triple-Negative Breast Cancer, Cancer Research, vol.71, issue.19, pp.6240-6249, 2011. ,
DOI : 10.1158/0008-5472.CAN-11-1266
A parathyroid hormone-related protein implicated in malignant hypercalcemia: cloning and expression, Science, vol.237, issue.4817, pp.893-896, 1987. ,
DOI : 10.1126/science.3616618
Parathyroid Hormone-Related Protein in Prostate Cancer, Critical Reviews in Eukaryotic Gene Expression, vol.15, issue.1, pp.15-28, 2005. ,
DOI : 10.1615/CritRevEukaryotGeneExpr.v15.i1.20
Coexpression of parathyroid hormone related protein and its receptor in early breast cancer predicts poor patient survival, Clin Cancer Res, vol.8, pp.3172-3177, 2002. ,
Common variants in ZNF365 are associated with both mammographic density and breast cancer risk, Nature Genetics, vol.8, issue.3, pp.185-187, 2011. ,
DOI : 10.1016/j.crad.2007.04.002
Mammographic Density and Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers, Cancer Research, vol.66, issue.3, pp.1866-1872, 2006. ,
DOI : 10.1158/0008-5472.CAN-05-3368
Common variants at 19p13 are associated with susceptibility to ovarian cancer, Nature Genetics, vol.16, issue.10, pp.880-884, 2010. ,
DOI : 10.1038/labinvest.3700093
A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24, Nature Genetics, vol.12, issue.10, pp.874-879, 2010. ,
DOI : 10.1111/j.1365-2184.2009.00604.x
A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2, Nature Genetics, vol.447, issue.9, pp.996-1000, 2009. ,
DOI : 10.1093/hmg/ddp078
Genetic modifiers of cancer risk for BRCA1 and BRCA2 mutation carriers, Annals of Oncology, vol.22, issue.suppl 1, pp.11-17, 2011. ,
DOI : 10.1093/annonc/mdq660
1186/bcr3121 Cite this article as Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers, Breast Cancer Research, vol.14, pp.10-33, 2012. ,