Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk.

Autor:	Lin WY; Department of Oncology, University of Sheffield Medical School, Sheffield S10 2RX, UK Department of Neurosurgery, Chang Gung Memorial Hospital, Taoyuan County 333, Taiwan., Camp NJ; Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, UT 84108-1266, USA., Ghoussaini M; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care., Beesley J; Department of Genetics., Michailidou K; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care., Hopper JL; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health., Apicella C; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health., Southey MC; Department of Pathology., Stone J; Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, Melbourne School of Population Health., Schmidt MK; Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam 1066 CX, the Netherlands., Broeks A; Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam 1066 CX, the Netherlands., Van't Veer LJ; Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam 1066 CX, the Netherlands., Th Rutgers EJ; Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam 1066 CX, the Netherlands., Muir K; Division of Health Sciences, Warwick Medical School, Warwick University, Coventry CV4 7AL, UK Institute of Population Health, University of Manchester, Manchester M13 9QQ, UK., Lophatananon A; Division of Health Sciences, Warwick Medical School, Warwick University, Coventry CV4 7AL, UK., Stewart-Brown S; Division of Health Sciences, Warwick Medical School, Warwick University, Coventry CV4 7AL, UK., Siriwanarangsan P; Ministry of Public Health, Nonthaburi 11000, Thailand., Fasching PA; University Breast Center Franconia, Department of Gynecology and Obstetrics David Geffen School of Medicine, Department of Medicine Division of Hematology and Oncology, University of California, Los Angeles, CA 90095, USA., Haeberle L; University Breast Center Franconia, Department of Gynecology and Obstetrics., Ekici AB; Institute of Human Genetics, University Hospital Erlangen, Friedrich Alexander University Erlangen-Nuremberg, Erlangen D-91054, Germany., Beckmann MW; University Breast Center Franconia, Department of Gynecology and Obstetrics., Peto J; Non-communicable Disease Epidemiology Department, London School of Hygiene and Tropical Medicine, London WC1E 7HT, UK., Dos-Santos-Silva I; Non-communicable Disease Epidemiology Department, London School of Hygiene and Tropical Medicine, London WC1E 7HT, UK., Fletcher O; Breakthrough Breast Cancer Research Centre., Johnson N; Breakthrough Breast Cancer Research Centre., Bolla MK; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care., Wang Q; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care., Dennis J; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care., Sawyer EJ; Division of Cancer Studies, Kings College London, Guy's Hospital, London SE1 9RT, UK., Cheng T; Wellcome Trust Centre for Human Genetics and Oxford Biomedical Research Centre, University of Oxford, Oxford OX3 7BN, UK., Tomlinson I; Wellcome Trust Centre for Human Genetics and Oxford Biomedical Research Centre, University of Oxford, Oxford OX3 7BN, UK., Kerin MJ; School of Medicine, National University of Ireland, Galway, Ireland., Miller N; School of Medicine, National University of Ireland, Galway, Ireland., Marmé F; Department of Obstetrics and Gynecology National Center for Tumor Diseases, University of Heidelberg, Heidelberg 69117, Germany., Surowy HM; Department of Obstetrics and Gynecology Molecular Epidemiology Group., Burwinkel B; Department of Obstetrics and Gynecology Molecular Epidemiology Group., Guénel P; Inserm (National Institute of Health and Medical Research), CESP (Center for Research in Epidemiology and Population Health), U1018, Environmental Epidemiology of Cancer, Villejuif 94807, France University Paris-Sud, UMRS 1018, Villejuif 94807, France., Truong T; Inserm (National Institute of Health and Medical Research), CESP (Center for Research in Epidemiology and Population Health), U1018, Environmental Epidemiology of Cancer, Villejuif 94807, France University Paris-Sud, UMRS 1018, Villejuif 94807, France., Menegaux F; Inserm (National Institute of Health and Medical Research), CESP (Center for Research in Epidemiology and Population Health), U1018, Environmental Epidemiology of Cancer, Villejuif 94807, France University Paris-Sud, UMRS 1018, Villejuif 94807, France., Mulot C; Université Paris Sorbonne Cité, UMR-S775 Inserm, Paris 75015, France., Bojesen SE; Copenhagen General Population Study, Herlev Hospital, 2730 Herlev, Copenhagen, Denmark Department of Clinical Biochemistry Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen 2200, Denmark., Nordestgaard BG; Copenhagen General Population Study, Herlev Hospital, 2730 Herlev, Copenhagen, Denmark Department of Clinical Biochemistry Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen 2200, Denmark., Nielsen SF; Copenhagen General Population Study, Herlev Hospital, 2730 Herlev, Copenhagen, Denmark Department of Clinical Biochemistry., Flyger H; Department of Breast Surgery, Herlev Hospital, Copenhagen University Hospital, Copenhagen 2100, Denmark., Benitez J; Human Genetics Group, Human Cancer Genetics Program Centro de Investigación en Red de Enfermedades Raras (CIBERER), Valencia 28029, Spain., Zamora MP; Servicio de Oncología Médica, Hospital Universitario La Paz, Madrid 28046, Spain., Arias Perez JI; Servicio de Cirugía General y Especialidades., Menéndez P; Servicio de Anatomía Patológica, Hospital Monte Naranco, Oviedo 33012, Spain., González-Neira A; Human Genotyping-CEGEN Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid E-28029, Spain., Pita G; Human Genotyping-CEGEN Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid E-28029, Spain., Alonso MR; Human Genotyping-CEGEN Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid E-28029, Spain., Alvarez N; Human Genotyping-CEGEN Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid E-28029, Spain., Herrero D; Human Genotyping-CEGEN Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid E-28029, Spain., Anton-Culver H; Department of Epidemiology, University of California Irvine, Irvine, CA 92697, USA., Brenner H; Division of Clinical Epidemiology and Aging Research German Cancer Consortium (DKTK), Heidelberg, Germany., Dieffenbach AK; Division of Clinical Epidemiology and Aging Research German Cancer Consortium (DKTK), Heidelberg, Germany., Arndt V; Division of Clinical Epidemiology and Aging Research., Stegmaier C; Saarland Cancer Registry, Saarbrücken 66024, Germany., Meindl A; Division of Gynaecology and Obstetrics., Lichtner P; Insitute of Human Genetics, Technische Universität München, Munich D-80333, Germany., Schmutzler RK; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO) and Center for Molecular Medicine Cologne (CMMC), Medical Faculty, University of Cologne and University Hospital Cologne, 50932 Cologne, Germany., Müller-Myhsok B; Max Planck Institute of Psychiatry, Munich 80804, Germany., Brauch H; Dr Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart 70376, Germany University of Tübingen, Tübingen 72074, Germany German Cancer Consortium (DKTK)., Brüning T; Institute for Prevention and Occupational Medicine of the German Social Accident Insurance, Institute of the Ruhr-University Bochum (IPA), Bochum D-44789, Germany., Ko YD; Department of Internal Medicine, Evangelische Kliniken Bonn gGmbH, Johanniter Krankenhaus, Bonn 53113, Germany., Tessier DC; Centre D'innovation Génome Québec et Université McGill, Montréal, QC, Canada H3A 0G1., Vincent D; Centre D'innovation Génome Québec et Université McGill, Montréal, QC, Canada H3A 0G1., Bacot F; Centre D'innovation Génome Québec et Université McGill, Montréal, QC, Canada H3A 0G1., Nevanlinna H; Department of Obstetrics and Gynecology Helsinki University Central Hospital, Helsinki 00029, Finland., Aittomäki K; Department of Clinical Genetics Helsinki University Central Hospital, Helsinki 00029, Finland., Blomqvist C; Department of Oncology, University of Helsinki Helsinki University Central Hospital, Helsinki 00029, Finland., Khan S; Department of Obstetrics and Gynecology Helsinki University Central Hospital, Helsinki 00029, Finland., Matsuo K; Department of Preventive Medicine, Kyushu University Faculty of Medical Sciences, Fukuoka 812-8582, Japan., Ito H; Division of Epidemiology and Prevention, Aichi Cancer Center Research Institute, Nagoya 464-8681, Japan., Iwata H; Department of Breast Oncology, Aichi Cancer Center Hospital, Nagoya 464-8681, Japan., Horio A; Department of Breast Oncology, Aichi Cancer Center Hospital, Nagoya 464-8681, Japan., Bogdanova NV; Department of Obstetrics and Gynaecology Department of Radiation Oncology, Hannover Medical School, Hannover 30625, Germany., Antonenkova NN; N.N. Alexandrov Research Institute of Oncology and Medical Radiology, Minsk 223040, Belarus., Dörk T; Department of Obstetrics and Gynaecology., Lindblom A; Department of Molecular Medicine and Surgery., Margolin S; Department of Oncology-Pathology., Mannermaa A; School of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine and Cancer Center of Eastern Finland Imaging Center, Department of Clinical Pathology., Kataja V; School of Medicine, Institute of Clinical Medicine, Oncology, University of Eastern Finland, Kuopio 70210, Finland Cancer Center, Kuopio University Hospital, Kuopio 70029, Finland., Kosma VM; School of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine and Cancer Center of Eastern Finland Imaging Center, Department of Clinical Pathology., Hartikainen JM; School of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine and Cancer Center of Eastern Finland Imaging Center, Department of Clinical Pathology., Wu AH; Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA., Tseng CC; Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA., Van Den Berg D; Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA., Stram DO; Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA., Neven P; University Hospital Gashuisberg, Leuven 3000, Belgium., Wauters E; Vesalius Research Center (VRC), VIB, Leuven 3000, Belgium Department of Oncology., Wildiers H; Department of General Medical Oncology, University Hospitals Leuven, Leuven 3000, Belgium., Lambrechts D; Vesalius Research Center (VRC), VIB, Leuven 3000, Belgium Laboratory for Translational Genetics, Department of Oncology., Chang-Claude J; Division of Cancer Epidemiology., Rudolph A; Division of Cancer Epidemiology., Seibold P; Division of Cancer Epidemiology., Flesch-Janys D; Department of Cancer Epidemiology/Clinical Cancer Registry and Institute for Medical Biometrics and Epidemiology, University Clinic Hamburg-Eppendorf, Hamburg D-20246, Germany., Radice P; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine., Peterlongo P; IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan 20139, Italy., Manoukian S; Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan 20133, Italy., Bonanni B; Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia (IEO), Milan 20141, Italy., Couch FJ; Department of Laboratory Medicine and Pathology., Wang X; Department of Laboratory Medicine and Pathology., Vachon C; Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA., Purrington K; Karmanos Cancer Center, Detroit, MI 48201, USA., Giles GG; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, VIC 3004, Australia., Milne RL; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, VIC 3004, Australia., Mclean C; Anatomical Pathology, The Alfred Hospital, Melbourne, VIC 3004, Australia., Haiman CA; Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA., Henderson BE; Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA., Schumacher F; Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA., Le Marchand L; Epidemiology Program, University of Hawaii Cancer Center, Honolulu, HI 96813, USA., Simard J; Centre Hospitalier Universitaire de Québec Research Centre and Laval University, Quebec City, QC, Canada G1V 4G2., Goldberg MS; Department of Medicine, McGill University, Montreal, QC, Canada H3A 0G4 Division of Clinical Epidemiology, McGill University Health Centre, Royal Victoria Hospital, Montreal, QC, Canada H3A 1A1., Labrèche F; Départements de Santé Environnementale et Santé au Travail et de Médecine Sociale et Préventive, École de Santé Publique, Université de Montréal, Montreal, QC, Canada H3T 1J4., Dumont M; Centre Hospitalier Universitaire de Québec Research Centre and Laval University, Quebec City, QC, Canada G1V 4G2., Teo SH; Cancer Research Initiatives Foundation, Sime Darby Medical Centre, Subang Jaya, Selangor, Malaysia Breast Cancer Research Unit, University Malaya Cancer Research Institute, University Malaya Medical Centre, Kuala Lumpur 50603, Malaysia., Yip CH; Breast Cancer Research Unit, University Malaya Cancer Research Institute, University Malaya Medical Centre, Kuala Lumpur 50603, Malaysia., Hassan N; Cancer Research Initiatives Foundation, Sime Darby Medical Centre, Subang Jaya, Selangor, Malaysia Breast Cancer Research Unit, University Malaya Cancer Research Institute, University Malaya Medical Centre, Kuala Lumpur 50603, Malaysia., Vithana EN; Singapore Eye Research Institute, National University of Singapore, Singapore 119077, Singapore., Kristensen V; Department of Genetics, Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet, Oslo 0372, Norway Faculty of Medicine (Faculty Division Ahus), University of Oslo (UiO), Oslo 0316, Norway., Zheng W; Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37232, USA., Deming-Halverson S; Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37232, USA., Shrubsole MJ; Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37232, USA., Long J; Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37232, USA., Winqvist R; Laboratory of Cancer Genetics and Tumor Biology, Department of Clinical Chemistry and Biocenter Oulu, Northern Finland Laboratory Centre NordLab., Pylkäs K; Laboratory of Cancer Genetics and Tumor Biology, Department of Clinical Chemistry and Biocenter Oulu, Northern Finland Laboratory Centre NordLab., Jukkola-Vuorinen A; Department of Oncology., Kauppila S; Department of Pathology, Oulu University Hospital, University of Oulu, Oulu 90570, Finland., Andrulis IL; Ontario Cancer Genetics Network Department of Molecular Genetics., Knight JA; Prosserman Centre for Health Research Division of Epidemiology, Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada M5S 2J7., Glendon G; Ontario Cancer Genetics Network., Tchatchou S; Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON, Canada M5G 1X5., Devilee P; Department of Human Genetics & Department of Pathology., Tollenaar RA; Department of Surgical Oncology., Seynaeve C; Family Cancer Clinic, Department of Medical Oncology, Erasmus MC Cancer Institute Rotterdam 3075 EA, The Netherlands., Van Asperen CJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden 2300 RC, The Netherlands., García-Closas M; Breakthrough Breast Cancer Research Centre, Division of Breast Cancer Research Division of Genetics and Epidemiology., Figueroa J; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20850, USA., Lissowska J; Department of Cancer Epidemiology and Prevention, M. Sklodowska-Curie Memorial Cancer Center & Institute of Oncology, Warsaw 02-781, Poland., Brinton L; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20850, USA., Czene K; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden., Darabi H; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden., Eriksson M; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden., Brand JS; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden., Hooning MJ; Family Cancer Clinic, Department of Medical Oncology, Erasmus MC Cancer Institute Rotterdam 3075 EA, The Netherlands., Hollestelle A; Family Cancer Clinic, Department of Medical Oncology, Erasmus MC Cancer Institute Rotterdam 3075 EA, The Netherlands., Van Den Ouweland AM; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam 3075 EA, The Netherlands., Jager A; Family Cancer Clinic, Department of Medical Oncology, Erasmus MC Cancer Institute Rotterdam 3075 EA, The Netherlands., Li J; Shanghai Center for Disease Control and Prevention, Shanghai 200336, China., Liu J; Human Genetics Division, Genome Institute of Singapore, Singapore 138672, Singapore., Humphreys K; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden., Shu XO; Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37232, USA., Lu W; Shanghai Center for Disease Control and Prevention, Shanghai 200336, China., Gao YT; Department of Epidemiology, Shanghai Cancer Institute, Shanghai 220025, China., Cai H; Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37232, USA., Cross SS; Department of Neuroscience, University of Sheffield, Royal Hallamshire Hospital, Sheffield S10 2JF, UK., Reed MW; Department of Oncology, University of Sheffield Medical School, Sheffield S10 2RX, UK., Blot W; Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37232, USA International Epidemiology Institute, Rockville, MD 20850, USA., Signorello LB; Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37232, USA International Epidemiology Institute, Rockville, MD 20850, USA., Cai Q; Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37232, USA., Pharoah PD; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK., Perkins B; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK., Shah M; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK., Blows FM; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK., Kang D; Department of Preventive Medicine Department of Biomedical Sciences, Seoul National University Graduate School, Seoul 151-742, Korea., Yoo KY; Seoul National University College of Medicine, Seoul 110-799, Korea., Noh DY; Department of Surgery., Hartman M; Saw Swee Hock School of Public Health Department of Surgery, Yong Loo Lin School of Medicine National University Health System, Singapore 119228, Singapore., Miao H; Saw Swee Hock School of Public Health National University Health System, Singapore 119228, Singapore., Chia KS; Saw Swee Hock School of Public Health National University Health System, Singapore 119228, Singapore., Putti TC; Department of Pathology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 117597, Singapore., Hamann U; Molecular Genetics of Breast Cancer., Luccarini C; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK., Baynes C; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK., Ahmed S; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK., Maranian M; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK., Healey CS; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK., Jakubowska A; Department of Genetics and Pathology, Pomeranian Medical University, Szczecin 70-204, Poland., Lubinski J; Department of Genetics and Pathology, Pomeranian Medical University, Szczecin 70-204, Poland., Jaworska-Bieniek K; Department of Genetics and Pathology, Pomeranian Medical University, Szczecin 70-204, Poland., Durda K; Department of Genetics and Pathology, Pomeranian Medical University, Szczecin 70-204, Poland., Sangrajrang S; National Cancer Institute, Bangkok 10400, Thailand., Gaborieau V; International Agency for Research on Cancer, Lyon 69372, France., Brennan P; International Agency for Research on Cancer, Lyon 69372, France., Mckay J; International Agency for Research on Cancer, Lyon 69372, France., Slager S; Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA., Toland AE; Department of Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center, The Ohio State University, Columbus, OH 43210, USA., Yannoukakos D; Molecular Diagnostics Laboratory, IRRP, National Centre for Scientific Research 'Demokritos', Aghia Paraskevi Attikis, Athens 153 10, Greece., Shen CY; Institute of Biomedical Sciences College of Public Health, China Medical University, Taichung 40402, Taiwan., Hsiung CN; Institute of Biomedical Sciences., Wu PE; Taiwan Biobank, Institute of Biomedical Sciences, Academia Sinica, Taipei 115, Taiwan., Ding SL; Department of Nursing, Kang-Ning Junior College of Medical Care and Management, Taipei 11529, Taiwan., Ashworth A; Breakthrough Breast Cancer Research Centre, Division of Breast Cancer Research., Jones M; Division of Genetics and Epidemiology., Orr N; Breakthrough Breast Cancer Research Centre and Division of Breast Cancer Research, The Institute of Cancer Research, London SW3 6JB, UK., Swerdlow AJ; Division of Genetics and Epidemiology Division of Breast Cancer Research., Tsimiklis H; Genetic Epidemiology Laboratory, Department of Pathology., Makalic E; Centre for Molecular, Environmental, Genetic, and Analytic Epidemiology, Melbourne School of Population Health, The University of Melbourne, Melbourne, VIC 3010, Australia., Schmidt DF; Centre for Molecular, Environmental, Genetic, and Analytic Epidemiology, Melbourne School of Population Health, The University of Melbourne, Melbourne, VIC 3010, Australia., Bui QM; Centre for Molecular, Environmental, Genetic, and Analytic Epidemiology, Melbourne School of Population Health, The University of Melbourne, Melbourne, VIC 3010, Australia., Chanock SJ; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20850, USA., Hunter DJ; Program in Molecular and Genetic Epidemiology, Harvard School of Public Health, Boston, MA 02115, USA., Hein R; Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg 69120, Germany PMV Research Group at the Department of Child and Adolescent Psychiatry and Psychotherapy, University of Cologne, Cologne 50923, Germany., Dahmen N; Department of Psychiatry, University of Mainz, Mainz 55122, Germany., Beckmann L; Institute for Quality and Efficiency in Health Care (IQWiG), Cologne 50670, Germany., Aaltonen K; Department of Obstetrics and Gynecology Helsinki University Central Hospital, Helsinki 00029, Finland., Muranen TA; Department of Obstetrics and Gynecology Helsinki University Central Hospital, Helsinki 00029, Finland., Heikkinen T; Department of Obstetrics and Gynecology Helsinki University Central Hospital, Helsinki 00029, Finland., Irwanto A; Human Genetics Division, Genome Institute of Singapore, Singapore 138672, Singapore., Rahman N; Division of Genetics and Epidemiology., Turnbull CA; Division of Genetics and Epidemiology., Waisfisz Q; Department of Clinical Genetics, Section Oncogenetics, VU University Medical Center, Amsterdam 1081 HZ, The Netherlands and., Meijers-Heijboer HE; Department of Clinical Genetics, Section Oncogenetics, VU University Medical Center, Amsterdam 1081 HZ, The Netherlands and., Adank MA; Department of Clinical Genetics, Section Oncogenetics, VU University Medical Center, Amsterdam 1081 HZ, The Netherlands and., Van Der Luijt RB; Department of Medical Genetics, University Medical Center Utrecht, Utrecht 3584 CX, The Netherlands., Hall P; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden., Chenevix-Trench G; Department of Genetics., Dunning A; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK., Easton DF; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK., Cox A; Department of Oncology, University of Sheffield Medical School, Sheffield S10 2RX, UK a.cox@sheffield.ac.uk.
Jazyk:	angličtina
Zdroj:	Human molecular genetics [Hum Mol Genet] 2015 Jan 01; Vol. 24 (1), pp. 285-98. Date of Electronic Publication: 2014 Aug 28.
DOI:	10.1093/hmg/ddu431
Abstrakt:	Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the role of CASP8 in breast cancer susceptibility, we carried out dense genotyping of this region in the Breast Cancer Association Consortium (BCAC). Single-nucleotide polymorphisms (SNPs) spanning a 1 Mb region around CASP8 were genotyped in 46 450 breast cancer cases and 42 600 controls of European origin from 41 studies participating in the BCAC as part of a custom genotyping array experiment (iCOGS). Missing genotypes and SNPs were imputed and, after quality exclusions, 501 typed and 1232 imputed SNPs were included in logistic regression models adjusting for study and ancestry principal components. The SNPs retained in the final model were investigated further in data from nine genome-wide association studies (GWAS) comprising in total 10 052 case and 12 575 control subjects. The most significant association signal observed in European subjects was for the imputed intronic SNP rs1830298 in ALS2CR12 (telomeric to CASP8), with per allele odds ratio and 95% confidence interval [OR (95% confidence interval, CI)] for the minor allele of 1.05 (1.03-1.07), P = 1 × 10(-5). Three additional independent signals from intronic SNPs were identified, in CASP8 (rs36043647), ALS2CR11 (rs59278883) and CFLAR (rs7558475). The association with rs1830298 was replicated in the imputed results from the combined GWAS (P = 3 × 10(-6)), yielding a combined OR (95% CI) of 1.06 (1.04-1.08), P = 1 × 10(-9). Analyses of gene expression associations in peripheral blood and normal breast tissue indicate that CASP8 might be the target gene, suggesting a mechanism involving apoptosis. (© The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.)
Databáze:	MEDLINE
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