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DNA repair and cancer in colon and rectum: Novel players in genetic susceptibility

B. Pardini, A. Corrado, E. Paolicchi, G. Cugliari, SI. Berndt, S. Bezieau, SA. Bien, H. Brenner, BJ. Caan, PT. Campbell, G. Casey, AT. Chan, J. Chang-Claude, M. Cotterchio, M. Gala, SJ. Gallinger, RW. Haile, TA. Harrison, RB. Hayes, M....

. 2020 ; 146 (2) : 363-372. [pub] 20190704

Jazyk angličtina Země Spojené státy americké

Typ dokumentu časopisecké články, Research Support, N.I.H., Extramural, práce podpořená grantem

Perzistentní odkaz   https://www.medvik.cz/link/bmc20006247

Grantová podpora
P30 CA015704 NCI NIH HHS - United States
HHSN271201100004C NHLBI NIH HHS - United States
P01 CA087969 NCI NIH HHS - United States
U01 CA164930 NCI NIH HHS - United States
Z01 CP 010200 NCI NIH HHS - United States
U01 CA167552 NIH HHS - United States
HHSN268201100003C NHLBI NIH HHS - United States
HHSN268201100001C NHLBI NIH HHS - United States
HHSN268201100004C NHLBI NIH HHS - United States
P01 CA033619 NIH HHS - United States
R01 CA48998 NCI NIH HHS - United States
U01/U24 CA074783 NCI NIH HHS - United States
K05 CA154337 NIH HHS - United States
R01 CA60987 NIH HHS - United States
R01 CA137178 NCI NIH HHS - United States
U01/U24 CA097735 NCI NIH HHS - United States
N01-PC-35142 NCI NIH HHS - United States
U01/U24 CA074800 NCI NIH HHS - United States
U01 CA167551 NIH HHS - United States
UM1 CA186107 NCI NIH HHS - United States
K07 CA190673 NCI NIH HHS - United States
HHSN268201100046C NHLBI NIH HHS - United States
P01 CA055075 NIH HHS - United States
U01 HG004446 NIH HHS - United States
U01 CA137088 NCI NIH HHS - United States
HHSN261201000035C NCI NIH HHS - United States
R01 CA076366 NIH HHS - United States
U24 CA074794 NCI NIH HHS - United States
U01/U24 CA074806 NCI NIH HHS - United States
U01 CA074778 NCI NIH HHS - United States
R37 CA54281 NIH HHS - United States
U19 CA148107 NCI NIH HHS - United States
HHSN2612013000121 NCI NIH HHS - United States
U01 CA074794 NCI NIH HHS - United States
U01 CA167551 NCI NIH HHS - United States
N01-CN-67009 NCI NIH HHS - United States
UM1 CA167552 NIH HHS - United States
U01 CA074783 NIH HHS - United States
R01 CA143247 NIH HHS - United States
R01 CA151993 NCI NIH HHS - United States
U01/U24 CA074799 NCI NIH HHS - United States
P50 CA127003 NCI NIH HHS - United States
HHSN268201100002C NHLBI NIH HHS - United States
U01 CA122839 NIH HHS - United States
U01 HG 004438 NCI NIH HHS - United States
R01 CA063464 NIH HHS - United States
R01 CA059045 NCI NIH HHS - United States
U01/U24 CA074794 NCI NIH HHS - United States
R35 CA197735 NCI NIH HHS - United States
R01 CA042182 NCI NIH HHS - United States
NV17-30920A MZ0 CEP - Centrální evidence projektů
NV17-30920A MZ0 CEP - Centrální evidence projektů

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.

Department of Biology University of Pisa Pisa Italy

Department of Epidemiology Richard M Fairbanks School of Public Health Indiana University Indianapolis IN

Department of Health Sciences Research Mayo Clinic Arizona Scottsdale AZ

Department of Internal Medicine University of Utah Health Sciences Center Salt Lake City UT

Department of Medicine and Epidemiology University of Pittsburgh Medical Center Pittsburgh PA

Department of Surgery Mount Sinai Hospital Toronto ON Canada

Division of Cancer Epidemiology and Genetics National Cancer Institute National Institutes of Health Rockville MD

Division of Cancer Epidemiology German Cancer Research Center Heidelberg Germany

Division of Clinical Epidemiology and Aging Research German Cancer Research Center Heidelberg Germany

Division of Epidemiology Department of Population Health New York University School of Medicine New York NY

Division of Gastroenterology Massachusetts General Hospital Boston MA

Epidemiology Program Research Cancer Center of Hawaii University of Hawaii Honolulu HI

Epidemiology Research Program American Cancer Society Atlanta GA

Institute of Biology and Medical Genetics 1st Faculty of Medicine Charles University Prague Czech Republic Faculty of Medicine and Biomedical Center in Pilsen Charles University Pilsen Czech Republic Department of Molecular Biology of Cancer Institute of Experimental Medicine The Czech Academy of Sciences Prague Czech Republic

Italian Institute for Genomic Medicine Turin Italy Department of Medical Sciences University of Turin Turin Italy

Italian Institute for Genomic Medicine Turin Italy Department of Molecular Biology of Cancer Institute of Experimental Medicine The Czech Academy of Sciences Prague Czech Republic

Kaiser Permanente Medical Care Program of Northern California Oakland CA

Melbourne School of Population Health The University of Melbourne Melbourne VIC Australia

Prevention and Cancer Control Cancer Care Ontario Toronto ON Canada

Program in MPE Molecular Pathological Epidemiology Department of Pathology Brigham and Women's Hospital and Harvard Medical School Boston MA Department of Oncologic Pathology Dana Farber Cancer Institute Boston MA Department of Epidemiology Harvard T H Chan School of Public Health Boston MA Broad Institute of MIT and Harvard Cambridge MA

Public Health Sciences Division Fred Hutchinson Cancer Research Center Seattle WA

Public Health Sciences Division Fred Hutchinson Cancer Research Center Seattle WA School of Public Health University of Washington Seattle WA

Public Health Sciences University of Virginia Charlottesville VA

Service de Génétique Médicale Centre Hospitalier Universitaire Nantes France

Stanford University School of Medicine Stanford CA

Citace poskytuje Crossref.org

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