-
Je něco špatně v tomto záznamu ?
Functional Polymorphisms in DNA Repair Genes Are Associated with Sporadic Colorectal Cancer Susceptibility and Clinical Outcome
K. Jiraskova, DJ. Hughes, S. Brezina, T. Gumpenberger, V. Veskrnova, T. Buchler, M. Schneiderova, M. Levy, V. Liska, S. Vodenkova, C. Di Gaetano, A. Naccarati, B. Pardini, V. Vymetalkova, A. Gsur, P. Vodicka,
Jazyk angličtina Země Švýcarsko
Typ dokumentu časopisecké články
Grantová podpora
GAUK112515
the Grant Agency of Charles University
HRA_PHS/2015/1142
the Health Research Board of Ireland
UNCE/MED/006
the Centrum of clinical and experimental liver surgery
LO1503
Ministry of Education Youth and Sports of the Czech Republic, the National Sustainability Program I
GACR 17-16857S
Grantová Agentura České Republiky
Post-doctoral fellowship Year 2014-2017
the Fondazione Umberto Veronesi
AZV MZ 15-26535A
the Internal Grant Agency of the Ministry of Health of the Czech Republic
AZV 17-30920A
the Internal Grant Agency of the Ministry of Health of the Czech Republic
829675
the FFG BRIDGE
the Herzfelder´sche Familienstiftung
the Herzfelder´sche Familienstiftung
GACR 15-14789S
Grantová Agentura České Republiky
NV17-30920A
MZ0
CEP - Centrální evidence projektů
Digitální knihovna NLK
Plný text - Článek
NLK
Free Medical Journals
od 2000
Freely Accessible Science Journals
od 2000
PubMed Central
od 2007
Europe PubMed Central
od 2007
ProQuest Central
od 2000-03-01
Open Access Digital Library
od 2000-01-01
Open Access Digital Library
od 2007-01-01
Health & Medicine (ProQuest)
od 2000-03-01
ROAD: Directory of Open Access Scholarly Resources
od 2000
PubMed
30591675
DOI
10.3390/ijms20010097
Knihovny.cz E-zdroje
- MeSH
- analýza přežití MeSH
- DNA vazebné proteiny genetika MeSH
- DNA-dependentní DNA-polymerasy genetika MeSH
- dospělí MeSH
- genetická predispozice k nemoci MeSH
- jednonukleotidový polymorfismus MeSH
- kohortové studie MeSH
- kolorektální nádory genetika mortalita patologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- metastázy nádorů MeSH
- N-glykosylhydrolasy genetika MeSH
- odds ratio MeSH
- oprava DNA genetika MeSH
- přežití bez známek nemoci MeSH
- senioři MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Česká republika MeSH
- Rakousko MeSH
DNA repair processes are involved in both the onset and treatment efficacy of colorectal cancer (CRC). A change of a single nucleotide causing an amino acid substitution in the corresponding protein may alter the efficiency of DNA repair, thus modifying the CRC susceptibility and clinical outcome. We performed a candidate gene approach in order to analyze the association of non-synonymous single nucleotide polymorphisms (nsSNPs) in the genes covering the main DNA repair pathways with CRC risk and clinical outcome modifications. Our candidate polymorphisms were selected according to the foremost genomic and functional prediction databases. Sixteen nsSNPs in 12 DNA repair genes were evaluated in cohorts from the Czech Republic and Austria. Apart from the tumor-node-metastasis (TNM) stage, which occurred as the main prognostic factor in all of the performed analyses, we observed several significant associations of different nsSNPs with survival and clinical outcomes in both cohorts. However, only some of the genes (REV3L, POLQ, and NEIL3) were prominently defined as prediction factors in the classification and regression tree analysis; therefore, the study suggests their association for patient survival. In summary, we provide observational and bioinformatics evidence that even subtle alterations in specific proteins of the DNA repair pathways may contribute to CRC susceptibility and clinical outcome.
Citace poskytuje Crossref.org
- 000
- 00000naa a2200000 a 4500
- 001
- bmc19027953
- 003
- CZ-PrNML
- 005
- 20190815114638.0
- 007
- ta
- 008
- 190813s2018 sz f 000 0|eng||
- 009
- AR
- 024 7_
- $a 10.3390/ijms20010097 $2 doi
- 035 __
- $a (PubMed)30591675
- 040 __
- $a ABA008 $b cze $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a sz
- 100 1_
- $a Jiraskova, Katerina $u Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University, Albertov 4, 128 00 Prague, Czech Republic. katerina.jiraskova@iem.cas.cz. Department of Molecular Biology of Cancer, Institute of Experimental Medicine of the Czech Academy of Sciences, Videnska 1083, 142 00 Prague, Czech Republic. katerina.jiraskova@iem.cas.cz.
- 245 10
- $a Functional Polymorphisms in DNA Repair Genes Are Associated with Sporadic Colorectal Cancer Susceptibility and Clinical Outcome / $c K. Jiraskova, DJ. Hughes, S. Brezina, T. Gumpenberger, V. Veskrnova, T. Buchler, M. Schneiderova, M. Levy, V. Liska, S. Vodenkova, C. Di Gaetano, A. Naccarati, B. Pardini, V. Vymetalkova, A. Gsur, P. Vodicka,
- 520 9_
- $a DNA repair processes are involved in both the onset and treatment efficacy of colorectal cancer (CRC). A change of a single nucleotide causing an amino acid substitution in the corresponding protein may alter the efficiency of DNA repair, thus modifying the CRC susceptibility and clinical outcome. We performed a candidate gene approach in order to analyze the association of non-synonymous single nucleotide polymorphisms (nsSNPs) in the genes covering the main DNA repair pathways with CRC risk and clinical outcome modifications. Our candidate polymorphisms were selected according to the foremost genomic and functional prediction databases. Sixteen nsSNPs in 12 DNA repair genes were evaluated in cohorts from the Czech Republic and Austria. Apart from the tumor-node-metastasis (TNM) stage, which occurred as the main prognostic factor in all of the performed analyses, we observed several significant associations of different nsSNPs with survival and clinical outcomes in both cohorts. However, only some of the genes (REV3L, POLQ, and NEIL3) were prominently defined as prediction factors in the classification and regression tree analysis; therefore, the study suggests their association for patient survival. In summary, we provide observational and bioinformatics evidence that even subtle alterations in specific proteins of the DNA repair pathways may contribute to CRC susceptibility and clinical outcome.
- 650 _2
- $a dospělí $7 D000328
- 650 _2
- $a senioři $7 D000368
- 650 _2
- $a kohortové studie $7 D015331
- 650 _2
- $a kolorektální nádory $x genetika $x mortalita $x patologie $7 D015179
- 650 _2
- $a oprava DNA $x genetika $7 D004260
- 650 _2
- $a DNA vazebné proteiny $x genetika $7 D004268
- 650 _2
- $a DNA-dependentní DNA-polymerasy $x genetika $7 D004259
- 650 _2
- $a přežití bez známek nemoci $7 D018572
- 650 _2
- $a ženské pohlaví $7 D005260
- 650 _2
- $a genetická predispozice k nemoci $7 D020022
- 650 _2
- $a lidé $7 D006801
- 650 _2
- $a mužské pohlaví $7 D008297
- 650 _2
- $a lidé středního věku $7 D008875
- 650 _2
- $a N-glykosylhydrolasy $x genetika $7 D009699
- 650 _2
- $a metastázy nádorů $7 D009362
- 650 _2
- $a odds ratio $7 D016017
- 650 _2
- $a jednonukleotidový polymorfismus $7 D020641
- 650 _2
- $a analýza přežití $7 D016019
- 651 _2
- $a Rakousko $7 D001317
- 651 _2
- $a Česká republika $7 D018153
- 655 _2
- $a časopisecké články $7 D016428
- 700 1_
- $a Hughes, David J $u Cancer Biology and Therapeutics Group, UCD Conway Institute, University College Dublin, Dublin 4, Ireland. davidhughes@rcsi.ie.
- 700 1_
- $a Brezina, Stefanie $u Institute of Cancer Research, Department of Medicine I, Medical University of Vienna, Borschkegasse 8a, A-1090 Vienna, Austria. stefanie.brezina@meduniwien.ac.at.
- 700 1_
- $a Gumpenberger, Tanja $u Institute of Cancer Research, Department of Medicine I, Medical University of Vienna, Borschkegasse 8a, A-1090 Vienna, Austria. tanja.gumpenberger@meduniwien.ac.at.
- 700 1_
- $a Veskrnova, Veronika $u Department of Oncology, First Faculty of Medicine, Charles University and Thomayer Hospital, Videnska 800, 140 59 Prague, Czech Republic. veskrnova.ver@gmail.com.
- 700 1_
- $a Buchler, Tomas $u Department of Oncology, First Faculty of Medicine, Charles University and Thomayer Hospital, Videnska 800, 140 59 Prague, Czech Republic. buchlert@yahoo.com.
- 700 1_
- $a Schneiderova, Michaela $u Department of Surgery, General University Hospital in Prague, U Nemocnice 499/2, 128 08 Prague, Czech Republic. schneider77@seznam.cz.
- 700 1_
- $a Levy, Miroslav $u Department of Surgery, First Faculty of Medicine, Charles University and Thomayer Hospital, Thomayerova 815/5, 140 00 Prague, Czech Republic. miroslav.levy@lf1.cuni.cz.
- 700 1_
- $a Liska, Vaclav $u Biomedical Centre, Faculty of Medicine in Pilsen, Charles University in Prague, 323 00 Pilsen, Czech Republic. vena.liska@skaut.cz. Department of Surgery, Medical School in Pilsen, Charles University, Alej svobody 80, 304 600 Pilsen, Czech Republic. vena.liska@skaut.cz.
- 700 1_
- $a Vodenkova, Sona $u Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University, Albertov 4, 128 00 Prague, Czech Republic. sona.vodenkova@iem.cas.cz. Department of Molecular Biology of Cancer, Institute of Experimental Medicine of the Czech Academy of Sciences, Videnska 1083, 142 00 Prague, Czech Republic. sona.vodenkova@iem.cas.cz. Department of Medical Genetics, Third Faculty of Medicine, Charles University, Ruska 2411/87, 100 00 Prague, Czech Republic. sona.vodenkova@iem.cas.cz.
- 700 1_
- $a Di Gaetano, Cornelia $u Molecular and Genetic Epidemiology; Genomic Variation in Human Populations and Complex Diseases, IIGM Italian Institute for Genomic Medicine, Via Nizza 52, 10126 Turin, Italy. cdigaeta@unito.it. Department of Medical Sciences, University of Turin, Corso Dogliotti 14, 10126 Turin, Italy. cdigaeta@unito.it.
- 700 1_
- $a Naccarati, Alessio $u Department of Molecular Biology of Cancer, Institute of Experimental Medicine of the Czech Academy of Sciences, Videnska 1083, 142 00 Prague, Czech Republic. alessio.naccarati@iigm.it. Molecular and Genetic Epidemiology; Genomic Variation in Human Populations and Complex Diseases, IIGM Italian Institute for Genomic Medicine, Via Nizza 52, 10126 Turin, Italy. alessio.naccarati@iigm.it.
- 700 1_
- $a Pardini, Barbara $u Molecular and Genetic Epidemiology; Genomic Variation in Human Populations and Complex Diseases, IIGM Italian Institute for Genomic Medicine, Via Nizza 52, 10126 Turin, Italy. barbara.pardini@iigm.it. Department of Medical Sciences, University of Turin, Corso Dogliotti 14, 10126 Turin, Italy. barbara.pardini@iigm.it.
- 700 1_
- $a Vymetalkova, Veronika $u Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University, Albertov 4, 128 00 Prague, Czech Republic. veronika.vymetalkova@iem.cas.cz. Department of Molecular Biology of Cancer, Institute of Experimental Medicine of the Czech Academy of Sciences, Videnska 1083, 142 00 Prague, Czech Republic. veronika.vymetalkova@iem.cas.cz. Biomedical Centre, Faculty of Medicine in Pilsen, Charles University in Prague, 323 00 Pilsen, Czech Republic. veronika.vymetalkova@iem.cas.cz.
- 700 1_
- $a Gsur, Andrea $u Institute of Cancer Research, Department of Medicine I, Medical University of Vienna, Borschkegasse 8a, A-1090 Vienna, Austria. andrea.gsur@meduniwien.ac.at.
- 700 1_
- $a Vodicka, Pavel $u Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University, Albertov 4, 128 00 Prague, Czech Republic. pavel.vodicka@iem.cas.cz. Department of Molecular Biology of Cancer, Institute of Experimental Medicine of the Czech Academy of Sciences, Videnska 1083, 142 00 Prague, Czech Republic. pavel.vodicka@iem.cas.cz. Biomedical Centre, Faculty of Medicine in Pilsen, Charles University in Prague, 323 00 Pilsen, Czech Republic. pavel.vodicka@iem.cas.cz.
- 773 0_
- $w MED00176142 $t International journal of molecular sciences $x 1422-0067 $g Roč. 20, č. 1 (2018)
- 856 41
- $u https://pubmed.ncbi.nlm.nih.gov/30591675 $y Pubmed
- 910 __
- $a ABA008 $b sig $c sign $y a $z 0
- 990 __
- $a 20190813 $b ABA008
- 991 __
- $a 20190815114906 $b ABA008
- 999 __
- $a ok $b bmc $g 1433102 $s 1066413
- BAS __
- $a 3
- BAS __
- $a PreBMC
- BMC __
- $a 2018 $b 20 $c 1 $e 20181227 $i 1422-0067 $m International journal of molecular sciences $n Int J Mol Sci $x MED00176142
- GRA __
- $a GAUK112515 $p the Grant Agency of Charles University
- GRA __
- $a HRA_PHS/2015/1142 $p the Health Research Board of Ireland
- GRA __
- $a UNCE/MED/006 $p the Centrum of clinical and experimental liver surgery
- GRA __
- $a LO1503 $p Ministry of Education Youth and Sports of the Czech Republic, the National Sustainability Program I
- GRA __
- $a GACR 17-16857S $p Grantová Agentura České Republiky
- GRA __
- $a Post-doctoral fellowship Year 2014-2017 $p the Fondazione Umberto Veronesi
- GRA __
- $a AZV MZ 15-26535A $p the Internal Grant Agency of the Ministry of Health of the Czech Republic
- GRA __
- $a AZV 17-30920A $p the Internal Grant Agency of the Ministry of Health of the Czech Republic
- GRA __
- $a 829675 $p the FFG BRIDGE
- GRA __
- $a the Herzfelder´sche Familienstiftung $p the Herzfelder´sche Familienstiftung
- GRA __
- $a GACR 15-14789S $p Grantová Agentura České Republiky
- GRA __
- $a NV17-30920A $p MZ0
- LZP __
- $a Pubmed-20190813
