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Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus.
Horne, Hisani N; Chung, Charles C; Zhang, Han; Yu, Kai; Prokunina-Olsson, Ludmila; Michailidou, Kyriaki; Bolla, Manjeet K; Wang, Qin; Dennis, Joe; Hopper, John L; Southey, Melissa C; Schmidt, Marjanka K; Broeks, Annegien; Muir, Kenneth; Lophatananon, Artitaya; Fasching, Peter A; Beckmann, Matthias W; Fletcher, Olivia; Johnson, Nichola; Sawyer, Elinor J; Tomlinson, Ian; Burwinkel, Barbara; Marme, Frederik; Guénel, Pascal; Truong, Thérèse; Bojesen, Stig E; Flyger, Henrik; Benitez, Javier; González-Neira, Anna; Anton-Culver, Hoda; Neuhausen, Susan L; Brenner, Hermann; Arndt, Volker; Meindl, Alfons; Schmutzler, Rita K; Brauch, Hiltrud; Hamann, Ute; Nevanlinna, Heli; Khan, Sofia; Matsuo, Keitaro; Iwata, Hiroji; Dörk, Thilo; Bogdanova, Natalia V; Lindblom, Annika; Margolin, Sara; Mannermaa, Arto; Kosma, Veli-Matti; Chenevix-Trench, Georgia; Wu, Anna H; Ven den Berg, David.
Afiliación
  • Horne HN; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, United States of America.
  • Chung CC; Food and Drug Administration, Silver Spring, MD, United States of America.
  • Zhang H; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, United States of America.
  • Yu K; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, United States of America.
  • Prokunina-Olsson L; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, United States of America.
  • Michailidou K; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, United States of America.
  • Bolla MK; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
  • Wang Q; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
  • Dennis J; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
  • Hopper JL; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
  • Southey MC; Centre for Epidemiology and Biostatistics, School of Population and Global Health, The University of Melbourne, Melbourne, Australia.
  • Schmidt MK; Department of Pathology, The University of Melbourne, Melbourne, Australia.
  • Broeks A; Netherlands Cancer Institute, Antoni van Leeuwenhoek hospital, Amsterdam, The Netherlands.
  • Muir K; Netherlands Cancer Institute, Antoni van Leeuwenhoek hospital, Amsterdam, The Netherlands.
  • Lophatananon A; Division of Health Sciences, Warwick Medical School, Warwick University, Coventry, UK.
  • Fasching PA; Institute of Population Health, University of Manchester, Manchester, UK.
  • Beckmann MW; Division of Health Sciences, Warwick Medical School, Warwick University, Coventry, UK.
  • Fletcher O; Department of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.
  • Johnson N; David Geffen School of Medicine, Department of Medicine Division of Hematology and Oncology, University of California at Los Angeles, Los Angeles, CA, United States of America.
  • Sawyer EJ; Department of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.
  • Tomlinson I; Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK.
  • Burwinkel B; Division of Breast Cancer Research, The Institute of Cancer Research, London, UK.
  • Marme F; Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK.
  • Guénel P; Division of Breast Cancer Research, The Institute of Cancer Research, London, UK.
  • Truong T; Research Oncology, Guy's Hospital, King's College London, London, UK.
  • Bojesen SE; Wellcome Trust Centre for Human Genetics and Oxford Biomedical Research Centre, University of Oxford, Oxford, UK.
  • Flyger H; Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany.
  • Benitez J; Molecular Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany.
  • González-Neira A; Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany.
  • Anton-Culver H; National Center for Tumor Diseases, University of Heidelberg, Heidelberg, Germany.
  • Neuhausen SL; Environmental Epidemiology of Cancer, Center for Research in Epidemiology and Population Health, INSERM, Villejuif, France.
  • Brenner H; University Paris-Sud, Villejuif, France.
  • Arndt V; Environmental Epidemiology of Cancer, Center for Research in Epidemiology and Population Health, INSERM, Villejuif, France.
  • Meindl A; University Paris-Sud, Villejuif, France.
  • Schmutzler RK; Copenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital, Herlev, Denmark.
  • Brauch H; Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, Herlev, Denmark.
  • Hamann U; Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
  • Nevanlinna H; Department of Breast Surgery, Herlev Hospital, Copenhagen University Hospital, Herlev, Denmark.
  • Khan S; Human Cancer Genetics Program, Spanish National Cancer Research Centre, Madrid, Spain.
  • Matsuo K; Centro de Investigación en Red de Enfermedades Raras, Valencia, Spain.
  • Iwata H; Human Cancer Genetics Program, Spanish National Cancer Research Centre, Madrid, Spain.
  • Dörk T; Department of Epidemiology, University of California Irvine, Irvine, CA, United States of America.
  • Bogdanova NV; Beckman Research Institute of City of Hope, Duarte, CA, United States of America.
  • Lindblom A; Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
  • Margolin S; Division of Preventive Oncology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
  • Mannermaa A; German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.
  • Kosma VM; Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
  • Chenevix-Trench G; Division of Gynaecology and Obstetrics, Technische Universität München, Munich, Germany.
  • Wu AH; Center of Familial Breast and Ovarian Cancer, University Hospital of Cologne, Cologne, Germany.
  • Ven den Berg D; Center for Integrated Oncology, University Hospital of Cologne, Cologne, Germany.
PLoS One ; 11(8): e0160316, 2016.
Article en En | MEDLINE | ID: mdl-27556229
The Cancer Genetic Markers of Susceptibility genome-wide association study (GWAS) originally identified a single nucleotide polymorphism (SNP) rs11249433 at 1p11.2 associated with breast cancer risk. To fine-map this locus, we genotyped 92 SNPs in a 900kb region (120,505,799-121,481,132) flanking rs11249433 in 45,276 breast cancer cases and 48,998 controls of European, Asian and African ancestry from 50 studies in the Breast Cancer Association Consortium. Genotyping was done using iCOGS, a custom-built array. Due to the complicated nature of the region on chr1p11.2: 120,300,000-120,505,798, that lies near the centromere and contains seven duplicated genomic segments, we restricted analyses to 429 SNPs excluding the duplicated regions (42 genotyped and 387 imputed). Per-allelic associations with breast cancer risk were estimated using logistic regression models adjusting for study and ancestry-specific principal components. The strongest association observed was with the original identified index SNP rs11249433 (minor allele frequency (MAF) 0.402; per-allele odds ratio (OR) = 1.10, 95% confidence interval (CI) 1.08-1.13, P = 1.49 x 10-21). The association for rs11249433 was limited to ER-positive breast cancers (test for heterogeneity P≤8.41 x 10-5). Additional analyses by other tumor characteristics showed stronger associations with moderately/well differentiated tumors and tumors of lobular histology. Although no significant eQTL associations were observed, in silico analyses showed that rs11249433 was located in a region that is likely a weak enhancer/promoter. Fine-mapping analysis of the 1p11.2 breast cancer susceptibility locus confirms this region to be limited to risk to cancers that are ER-positive.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cromosomas Humanos Par 1 / Neoplasias de la Mama / Mapeo Cromosómico / Sitios de Carácter Cuantitativo Tipo de estudio: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Female / Humans Idioma: En Revista: PLoS One Asunto de la revista: CIENCIA / MEDICINA Año: 2016 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cromosomas Humanos Par 1 / Neoplasias de la Mama / Mapeo Cromosómico / Sitios de Carácter Cuantitativo Tipo de estudio: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Female / Humans Idioma: En Revista: PLoS One Asunto de la revista: CIENCIA / MEDICINA Año: 2016 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos