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Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.
Wang, Yufei; McKay, James D; Rafnar, Thorunn; Wang, Zhaoming; Timofeeva, Maria N; Broderick, Peter; Zong, Xuchen; Laplana, Marina; Wei, Yongyue; Han, Younghun; Lloyd, Amy; Delahaye-Sourdeix, Manon; Chubb, Daniel; Gaborieau, Valerie; Wheeler, William; Chatterjee, Nilanjan; Thorleifsson, Gudmar; Sulem, Patrick; Liu, Geoffrey; Kaaks, Rudolf; Henrion, Marc; Kinnersley, Ben; Vallée, Maxime; LeCalvez-Kelm, Florence; Stevens, Victoria L; Gapstur, Susan M; Chen, Wei V; Zaridze, David; Szeszenia-Dabrowska, Neonilia; Lissowska, Jolanta; Rudnai, Peter; Fabianova, Eleonora; Mates, Dana; Bencko, Vladimir; Foretova, Lenka; Janout, Vladimir; Krokan, Hans E; Gabrielsen, Maiken Elvestad; Skorpen, Frank; Vatten, Lars; Njølstad, Inger; Chen, Chu; Goodman, Gary; Benhamou, Simone; Vooder, Tonu; Välk, Kristjan; Nelis, Mari; Metspalu, Andres; Lener, Marcin; Lubinski, Jan.
Afiliação
  • Wang Y; 1] Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, Surrey, UK. [2].
  • McKay JD; 1] International Agency for Research on Cancer (IARC, World Health Organization (WHO)), Lyon, France. [2] [3].
  • Rafnar T; deCODE Genetics, Amgen, Reykjavik, Iceland.
  • Wang Z; Department of Health and Human Services, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health (NIH), Bethesda, Maryland, USA.
  • Timofeeva MN; International Agency for Research on Cancer (IARC, World Health Organization (WHO)), Lyon, France.
  • Broderick P; Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, Surrey, UK.
  • Zong X; Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada.
  • Laplana M; Division of Epigenomics and Cancer Risk Factors, German Cancer Research Center (DKFZ), Heidelberg, Germany.
  • Wei Y; Department of Environmental Health, Harvard School of Public Health, Boston, Massachusetts, USA.
  • Han Y; Center for Genomic Medicine, Department of Community and Family Medicine, Geisel School of Medicine, Dartmouth College, Lebanon, New Hampshire, USA.
  • Lloyd A; Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, Surrey, UK.
  • Delahaye-Sourdeix M; International Agency for Research on Cancer (IARC, World Health Organization (WHO)), Lyon, France.
  • Chubb D; Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, Surrey, UK.
  • Gaborieau V; International Agency for Research on Cancer (IARC, World Health Organization (WHO)), Lyon, France.
  • Wheeler W; Information Management Services, Inc., Rockville, Maryland, USA.
  • Chatterjee N; Department of Health and Human Services, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health (NIH), Bethesda, Maryland, USA.
  • Thorleifsson G; deCODE Genetics, Amgen, Reykjavik, Iceland.
  • Sulem P; deCODE Genetics, Amgen, Reykjavik, Iceland.
  • Liu G; Princess Margaret Hospital, University Health Network, Toronto, Ontario, Canada.
  • Kaaks R; 1] Division of Cancer Epidemiology, DKFZ, Heidelberg, Germany. [2] Translational Lung Research Center Heidelberg (TLRC-H), Member of the German Center for Lung Research (DZL), Heidelberg, Germany.
  • Henrion M; Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, Surrey, UK.
  • Kinnersley B; Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, Surrey, UK.
  • Vallée M; International Agency for Research on Cancer (IARC, World Health Organization (WHO)), Lyon, France.
  • LeCalvez-Kelm F; International Agency for Research on Cancer (IARC, World Health Organization (WHO)), Lyon, France.
  • Stevens VL; Epidemiology Research Program, American Cancer Society, Atlanta, Georgia, USA.
  • Gapstur SM; Epidemiology Research Program, American Cancer Society, Atlanta, Georgia, USA.
  • Chen WV; Department of Genetics, University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
  • Zaridze D; Institute of Carcinogenesis, Russian N.N. Blokhin Cancer Research Centre, Moscow, Russia.
  • Szeszenia-Dabrowska N; Department of Epidemiology, Institute of Occupational Medicine, Lodz, Poland.
  • Lissowska J; The M. Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Warsaw, Poland.
  • Rudnai P; National Institute of Environmental Health, Budapest, Hungary.
  • Fabianova E; Regional Authority of Public Health, Banská Bystrica, Slovak Republic.
  • Mates D; National Institute of Public Health, Bucharest, Romania.
  • Bencko V; 1st Faculty of Medicine, Institute of Hygiene and Epidemiology, Charles University in Prague, Prague, Czech Republic.
  • Foretova L; Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic.
  • Janout V; Palacky University, Olomouc, Czech Republic.
  • Krokan HE; Department of Laboratory Medicine, Children's and Women's Health, Norwegian University of Science and Technology, Trondheim, Norway.
  • Gabrielsen ME; Department of Laboratory Medicine, Children's and Women's Health, Norwegian University of Science and Technology, Trondheim, Norway.
  • Skorpen F; Department of Laboratory Medicine, Children's and Women's Health, Faculty of Medicine, Norwegian University of Science and Technology, Trondheim, Norway.
  • Vatten L; Department of Public Health and General Practice, Faculty of Medicine, Norwegian University of Science and Technology, Trondheim, Norway.
  • Njølstad I; Department of Community Medicine, University of Tromsø, Tromsø, Norway.
  • Chen C; Fred Hutchinson Cancer Research Center, Seattle, Washington, USA.
  • Goodman G; Fred Hutchinson Cancer Research Center, Seattle, Washington, USA.
  • Benhamou S; INSERM U946, Paris, France.
  • Vooder T; Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.
  • Välk K; Department of Biomedicine, University of Bergen, Bergen, Norway.
  • Nelis M; 1] Estonian Genome Center, Institute of Molecular and Cell Biology, Tartu, Estonia. [2] Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
  • Metspalu A; Estonian Genome Center, Institute of Molecular and Cell Biology, Tartu, Estonia.
  • Lener M; Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland.
  • Lubinski J; Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland.
Nat Genet ; 46(7): 736-41, 2014 Jul.
Article em En | MEDLINE | ID: mdl-24880342
ABSTRACT
We conducted imputation to the 1000 Genomes Project of four genome-wide association studies of lung cancer in populations of European ancestry (11,348 cases and 15,861 controls) and genotyped an additional 10,246 cases and 38,295 controls for follow-up. We identified large-effect genome-wide associations for squamous lung cancer with the rare variants BRCA2 p.Lys3326X (rs11571833, odds ratio (OR) = 2.47, P = 4.74 × 10(-20)) and CHEK2 p.Ile157Thr (rs17879961, OR = 0.38, P = 1.27 × 10(-13)). We also showed an association between common variation at 3q28 (TP63, rs13314271, OR = 1.13, P = 7.22 × 10(-10)) and lung adenocarcinoma that had been previously reported only in Asians. These findings provide further evidence for inherited genetic susceptibility to lung cancer and its biological basis. Additionally, our analysis demonstrates that imputation can identify rare disease-causing variants with substantive effects on cancer risk from preexisting genome-wide association study data.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Carcinoma de Células Escamosas / Adenocarcinoma / Polimorfismo de Nucleotídeo Único / Proteína BRCA2 / Quinase do Ponto de Checagem 2 / Neoplasias Pulmonares Tipo de estudo: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Limite: Humans Idioma: En Revista: Nat Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2014 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Carcinoma de Células Escamosas / Adenocarcinoma / Polimorfismo de Nucleotídeo Único / Proteína BRCA2 / Quinase do Ponto de Checagem 2 / Neoplasias Pulmonares Tipo de estudo: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Limite: Humans Idioma: En Revista: Nat Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2014 Tipo de documento: Article