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DNA repair and cancer in colon and rectum: Novel players in genetic susceptibility.
Pardini, Barbara; Corrado, Alda; Paolicchi, Elisa; Cugliari, Giovanni; Berndt, Sonja I; Bezieau, Stephane; Bien, Stephanie A; Brenner, Hermann; Caan, Bette J; Campbell, Peter T; Casey, Graham; Chan, Andrew T; Chang-Claude, Jenny; Cotterchio, Michelle; Gala, Manish; Gallinger, Steven J; Haile, Robert W; Harrison, Tabitha A; Hayes, Richard B; Hoffmeister, Michael; Hopper, John L; Hsu, Li; Huyghe, Jeroen; Jenkins, Mark A; Le Marchand, Loic; Lin, Yi; Lindor, Noralane M; Nan, Hongmei; Newcomb, Polly A; Ogino, Shuji; Potter, John D; Schoen, Robert E; Slattery, Martha L; White, Emily; Vodickova, Ludmila; Vymetalkova, Veronika; Vodicka, Pavel; Gemignani, Federica; Peters, Ulrike; Naccarati, Alessio; Landi, Stefano.
Afiliação
  • Pardini B; Italian Institute for Genomic Medicine (IIGM), Turin, Italy.
  • Corrado A; Department of Medical Sciences, University of Turin, Turin, Italy.
  • Paolicchi E; Department of Biology, University of Pisa, Pisa, Italy.
  • Cugliari G; Department of Biology, University of Pisa, Pisa, Italy.
  • Berndt SI; Italian Institute for Genomic Medicine (IIGM), Turin, Italy.
  • Bezieau S; Department of Medical Sciences, University of Turin, Turin, Italy.
  • Bien SA; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD.
  • Brenner H; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU), Nantes, France.
  • Caan BJ; Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA.
  • Campbell PT; School of Public Health, University of Washington, Seattle, WA.
  • Casey G; Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
  • Chan AT; Division of Preventive Oncology, German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT), Heidelberg, Germany.
  • Chang-Claude J; German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.
  • Cotterchio M; Kaiser Permanente Medical Care Program of Northern California, Oakland, CA.
  • Gala M; Epidemiology Research Program, American Cancer Society, Atlanta, GA.
  • Gallinger SJ; Public Health Sciences, University of Virginia, Charlottesville, VA.
  • Haile RW; Division of Gastroenterology, Massachusetts General Hospital, Boston, MA.
  • Harrison TA; Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
  • Hayes RB; Prevention and Cancer Control, Cancer Care Ontario, Toronto, ON, Canada.
  • Hoffmeister M; Division of Gastroenterology, Massachusetts General Hospital, Boston, MA.
  • Hopper JL; Department of Surgery, Mount Sinai Hospital, Toronto, ON, Canada.
  • Hsu L; Stanford University School of Medicine, Stanford, CA.
  • Huyghe J; Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA.
  • Jenkins MA; Division of Epidemiology, Department of Population Health, New York University School of Medicine, New York, NY.
  • Le Marchand L; Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
  • Lin Y; Melbourne School of Population Health, The University of Melbourne, Melbourne, VIC, Australia.
  • Lindor NM; Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA.
  • Nan H; Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA.
  • Newcomb PA; Melbourne School of Population Health, The University of Melbourne, Melbourne, VIC, Australia.
  • Ogino S; Epidemiology Program, Research Cancer Center of Hawaii, University of Hawaii, Honolulu, HI.
  • Potter JD; Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA.
  • Schoen RE; Department of Health Sciences Research, Mayo Clinic Arizona, Scottsdale, AZ.
  • Slattery ML; Department of Epidemiology, Richard M. Fairbanks School of Public Health, Indiana University, Indianapolis, IN.
  • White E; Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA.
  • Vodickova L; Program in MPE Molecular Pathological Epidemiology, Department of Pathology, Brigham and Women's Hospital, and Harvard Medical School, Boston, MA.
  • Vymetalkova V; Department of Oncologic Pathology, Dana-Farber Cancer Institute, Boston, MA.
  • Vodicka P; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA.
  • Gemignani F; Broad Institute of MIT and Harvard, Cambridge, MA.
  • Peters U; Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA.
  • Naccarati A; Department of Medicine and Epidemiology, University of Pittsburgh Medical Center, Pittsburgh, PA.
  • Landi S; Department of Internal Medicine, University of Utah Health Sciences Center, Salt Lake City, UT.
Int J Cancer ; 146(2): 363-372, 2020 01 15.
Artigo em Inglês | MEDLINE | ID: mdl-31209889
ABSTRACT
Interindividual differences in DNA repair systems may play a role in modulating the individual risk of developing colorectal cancer. To better ascertain the role of DNA repair gene polymorphisms on colon and rectal cancer risk individually, we evaluated 15,419 single nucleotide polymorphisms (SNPs) within 185 DNA repair genes using GWAS data from the Colon Cancer Family Registry (CCFR) and the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO), which included 8,178 colon cancer, 2,936 rectum cancer cases and 14,659 controls. Rs1800734 (in MLH1 gene) was associated with colon cancer risk (p-value = 3.5 × 10-6 ) and rs2189517 (in RAD51B) with rectal cancer risk (p-value = 5.7 × 10-6 ). The results had statistical significance close to the Bonferroni corrected p-value of 5.8 × 10-6 . Ninety-four SNPs were significantly associated with colorectal cancer risk after Binomial Sequential Goodness of Fit (BSGoF) procedure and confirmed the relevance of DNA mismatch repair (MMR) and homologous recombination pathways for colon and rectum cancer, respectively. Defects in MMR genes are known to be crucial for familial form of colorectal cancer but our findings suggest that specific genetic variations in MLH1 are important also in the individual predisposition to sporadic colon cancer. Other SNPs associated with the risk of colon cancer (e.g., rs16906252 in MGMT) were found to affect mRNA expression levels in colon transverse and therefore working as possible cis-eQTL suggesting possible mechanisms of carcinogenesis.
Assuntos
Texto completo: Disponível Coleções: Bases de dados internacionais Base de dados: MEDLINE Assunto principal: Neoplasias Retais / Neoplasias do Colo / Predisposição Genética para Doença / Reparo do DNA Limite: Adulto / Idoso / Feminino / Humanos / Masculino / Meia-Idade / Jovem adulto Idioma: Inglês Revista: Int J Cancer Ano de publicação: 2020 Tipo de documento: Artigo País de afiliação: Itália

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Texto completo: Disponível Coleções: Bases de dados internacionais Base de dados: MEDLINE Assunto principal: Neoplasias Retais / Neoplasias do Colo / Predisposição Genética para Doença / Reparo do DNA Limite: Adulto / Idoso / Feminino / Humanos / Masculino / Meia-Idade / Jovem adulto Idioma: Inglês Revista: Int J Cancer Ano de publicação: 2020 Tipo de documento: Artigo País de afiliação: Itália