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Two high-risk susceptibility loci at 6p25.3 and 14q32.13 for Waldenström macroglobulinemia.
McMaster, Mary L; Berndt, Sonja I; Zhang, Jianqing; Slager, Susan L; Li, Shengchao Alfred; Vajdic, Claire M; Smedby, Karin E; Yan, Huihuang; Birmann, Brenda M; Brown, Elizabeth E; Smith, Alex; Kleinstern, Geffen; Fansler, Mervin M; Mayr, Christine; Zhu, Bin; Chung, Charles C; Park, Ju-Hyun; Burdette, Laurie; Hicks, Belynda D; Hutchinson, Amy; Teras, Lauren R; Adami, Hans-Olov; Bracci, Paige M; McKay, James; Monnereau, Alain; Link, Brian K; Vermeulen, Roel C H; Ansell, Stephen M; Maria, Ann; Diver, W Ryan; Melbye, Mads; Ojesina, Akinyemi I; Kraft, Peter; Boffetta, Paolo; Clavel, Jacqueline; Giovannucci, Edward; Besson, Caroline M; Canzian, Federico; Travis, Ruth C; Vineis, Paolo; Weiderpass, Elisabete; Montalvan, Rebecca; Wang, Zhaoming; Yeager, Meredith; Becker, Nikolaus; Benavente, Yolanda; Brennan, Paul; Foretova, Lenka; Maynadie, Marc; Nieters, Alexandra.
Afiliação
  • McMaster ML; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, 20892, MD, USA. Mary.McMaster@nih.hhs.gov.
  • Berndt SI; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, 20892, MD, USA.
  • Zhang J; Department of Epidemiology, School of Public Health and Comprehensive Cancer Center, University of Alabama at Birmingham, Birmingham, 35233, AL, USA.
  • Slager SL; Department of Health Sciences Research, Mayo Clinic, Rochester, 55905, MN, USA.
  • Li SA; Cancer Genomics Research Laboratory, Leidos Biomedical Research, Inc., Frederick National Lab for Cancer Research, Frederick, 20877, MD, USA.
  • Vajdic CM; Centre for Big Data Research in Health, University of New South Wales, Sydney, 2052, NSW, Australia.
  • Smedby KE; Department of Medicine, Solna Karolinska Institutet, Stockholm, 17176, Sweden.
  • Yan H; Hematology Center, Karolinska University Hospital, Stockholm, 17176, Sweden.
  • Birmann BM; Department of Health Sciences Research, Mayo Clinic, Rochester, 55905, MN, USA.
  • Brown EE; Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, 02115, MA, USA.
  • Smith A; Department of Pathology, University of Alabama at Birmingham, Birmingham, 35233, AL, USA.
  • Kleinstern G; Department of Health Sciences, University of York, York, YO10 5DD, UK.
  • Fansler MM; Department of Health Sciences Research, Mayo Clinic, Rochester, 55905, MN, USA.
  • Mayr C; Tri-Institutional Training Program in Computational Biology and Medicine, Weill Cornell Graduate College, New York, 10021, NY, USA.
  • Zhu B; Cancer Biology and Genetics Program, Memorial Sloan Kettering Cancer Center, New York, 10065, NY, USA.
  • Chung CC; Cancer Biology and Genetics Program, Memorial Sloan Kettering Cancer Center, New York, 10065, NY, USA.
  • Park JH; Cancer Genomics Research Laboratory, Leidos Biomedical Research, Inc., Frederick National Lab for Cancer Research, Frederick, 20877, MD, USA.
  • Burdette L; Cancer Genomics Research Laboratory, Leidos Biomedical Research, Inc., Frederick National Lab for Cancer Research, Frederick, 20877, MD, USA.
  • Hicks BD; Department of Statistics, Dongguk University, Seoul, 100-715, Republic of Korea.
  • Hutchinson A; Cancer Genomics Research Laboratory, Leidos Biomedical Research, Inc., Frederick National Lab for Cancer Research, Frederick, 20877, MD, USA.
  • Teras LR; Cancer Genomics Research Laboratory, Leidos Biomedical Research, Inc., Frederick National Lab for Cancer Research, Frederick, 20877, MD, USA.
  • Adami HO; Cancer Genomics Research Laboratory, Leidos Biomedical Research, Inc., Frederick National Lab for Cancer Research, Frederick, 20877, MD, USA.
  • Bracci PM; Epidemiology Research Program, American Cancer Society, Atlanta, 30303, GA, USA.
  • McKay J; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, 17177, Sweden.
  • Monnereau A; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, 02115, MA, USA.
  • Link BK; Institute of Health and Society, Clinical Effectiveness Research Group, University of Oslo, Oslo, NO-0316, Norway.
  • Vermeulen RCH; Department of Epidemiology and Biostatistics, University of California, San Francisco, San Francisco, 94118, CA, USA.
  • Ansell SM; International Agency for Research on Cancer (IARC), Lyon, 69372, France.
  • Maria A; Epidemiology of Childhood and Adolescent Cancers Group, Inserm, Center of Research in Epidemiology and Statistics Sorbonne Paris Cité (CRESS), Paris, F-94807, France.
  • Diver WR; Université Paris Descartes, Paris, 75006, France.
  • Melbye M; Registry of Hematological Malignancies in Gironde, Institut Bergonié, University of Bordeaux, Inserm, Team EPICENE, UMR 1219, Bordeaux, 33000, France.
  • Ojesina AI; Department of Internal Medicine, Carver College of Medicine, The University of Iowa, Iowa City, 52242, IA, USA.
  • Kraft P; Institute for Risk Assessment Sciences, Utrecht University, Utrecht, 3508 TD, The Netherlands.
  • Boffetta P; Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands.
  • Clavel J; Department of Internal Medicine, Mayo Clinic, Rochester, 55905, MN, USA.
  • Giovannucci E; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, 10065, NY, USA.
  • Besson CM; Epidemiology Research Program, American Cancer Society, Atlanta, 30303, GA, USA.
  • Canzian F; Division of Health Surveillance and Research, Department of Epidemiology Research, Statens Serum Institut, Copenhagen, 2300, Denmark.
  • Travis RC; Department of Medicine, Stanford University School of Medicine, Stanford, 94305, CA, USA.
  • Vineis P; Department of Epidemiology, School of Public Health and Comprehensive Cancer Center, University of Alabama at Birmingham, Birmingham, 35233, AL, USA.
  • Weiderpass E; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, 02115, MA, USA.
  • Montalvan R; Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, 02115, MA, USA.
  • Wang Z; The Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, 10029, NY, USA.
  • Yeager M; Epidemiology of Childhood and Adolescent Cancers Group, Inserm, Center of Research in Epidemiology and Statistics Sorbonne Paris Cité (CRESS), Paris, F-94807, France.
  • Becker N; Université Paris Descartes, Paris, 75006, France.
  • Benavente Y; Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, 02115, MA, USA.
  • Brennan P; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, 02115, MA, USA.
  • Foretova L; Department of Nutrition, Harvard T.H. Chan School of Public Health, Boston, 02115, MA, USA.
  • Maynadie M; Service d'hématologie et Oncologie, Centre Hospitalier de Versailles, Le Chesnay, Inserm U1018, Centre pour la Recherche en Epidémiologie et Santé des Populations (CESP), Villejuif, 78157, France.
  • Nieters A; Genomic Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, 69120, Germany.
Nat Commun ; 9(1): 4182, 2018 10 10.
Article em En | MEDLINE | ID: mdl-30305637
ABSTRACT
Waldenström macroglobulinemia (WM)/lymphoplasmacytic lymphoma (LPL) is a rare, chronic B-cell lymphoma with high heritability. We conduct a two-stage genome-wide association study of WM/LPL in 530 unrelated cases and 4362 controls of European ancestry and identify two high-risk loci associated with WM/LPL at 6p25.3 (rs116446171, near EXOC2 and IRF4; OR = 21.14, 95% CI 14.40-31.03, P = 1.36 × 10-54) and 14q32.13 (rs117410836, near TCL1; OR = 4.90, 95% CI 3.45-6.96, P = 8.75 × 10-19). Both risk alleles are observed at a low frequency among controls (~2-3%) and occur in excess in affected cases within families. In silico data suggest that rs116446171 may have functional importance, and in functional studies, we demonstrate increased reporter transcription and proliferation in cells transduced with the 6p25.3 risk allele. Although further studies are needed to fully elucidate underlying biological mechanisms, together these loci explain 4% of the familial risk and provide insights into genetic susceptibility to this malignancy.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 6 / Cromossomos Humanos Par 14 / Macroglobulinemia de Waldenstrom / Predisposição Genética para Doença Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Nat Commun Assunto da revista: BIOLOGIA / CIENCIA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 6 / Cromossomos Humanos Par 14 / Macroglobulinemia de Waldenstrom / Predisposição Genética para Doença Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Nat Commun Assunto da revista: BIOLOGIA / CIENCIA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Estados Unidos